StemCell Therapy

Last month, a letter dropped onto Robert Jones doormat containing just about the best possible news.

It revealed the person he had donated bone marrow to was doing very well, two years on from a life-saving blood stem cell transplant.

The Pontypridd hooker doesnt know much about the recipient, other than hes a 24-year-old young man from Ireland.

But with two years having passed, that person will now receive details of his donor and can get in touch with him and meet up if he so wishes.

Its a meeting Jones would love to see take place.

He has decided to talk about what he did and the happy outcome in order to encourage more people to join the donor list.

So how did it all come about?

I have given blood for about 10, 12 years now, he explained.

Then about four years ago, the Welsh Blood Service just asked me if I would mind going on the bone marrow donor list.

I lost my grandfather, Howard, to leukaemia six years ago. So as soon as they said it could benefit people who suffer with blood cancer, I couldn't say no, really.

I joined the register and they just took an extra sample of blood to test.

I didnt expect to hear anything, but within a year and a half, Welsh Blood contacted me to say they had a potential match. I was a bit shell-shocked.

I went down and had a discussion with them. I didnt know anything about who I was going to be donating to at that point.

I went for a medical, a full body MOT to make sure I was fit enough.

With that box ticked, it was then a question of deciding which procedure to go for.

They give you two options, he explained.

Either a stem cell transplant where you are hooked up to a machine for 12 hours or taking the bone marrow, which involves drilling into your hip bone.

I went for the drilling one.

In simple terms, the stem cell is quantity over quality, whereas the bone marrow is quality over quantity.

When I had my meetings with Welsh Blood to make my choice, they said it was a 22-year-old young boy from Ireland who had leukaemia.

At the time, my brother was 23, 24 and I just thought imagine that was my brother.

The only thing I could think of was imagine the shoe was on the other foot and it was one of my family members or friends suffering.

Plus the idea of being hooked up to a machine for 12 hours straight would have skulled me to death!

So I went for the bone marrow option. It was more likely to be helpful and useful.

That was in January 2018. When you hear exactly what the procedure involved, you have nothing but admiration for Jones.

They drill straight into your hip bones to the core and then they withdraw your whole bone marrow, he said.

There were six drill holes right in the bottom of my back. It depends on the individual, the amount of marrow they take.

If theres enough to take, they keep taking it really. The nurse said they took a hell of lot more from me than a normal person, possibly because I am so big!

I think it was 600 mill they had out of me.

The operation lasted about three hours in all.

I woke up from the anaesthetic about 1pm in the afternoon and I was in so much pain I said put me straight back under!

It was such a severe ache I just couldnt ignore it. So they put more morphine in and I went straight back to sleep.

Then I woke up about 6pm and my mother was there to pick me up.

She said I just looked horrendous, as white as a ghost.

But I went home that evening, so I was in and out of hospital in the day.

I couldnt sit down for a week. I had to lie flat. So I was more or less settee or bed bound.

Obviously I was in a lot of pain and I was off work for three or four months. They were really supportive.

I was still aching for up to a year, but not to the extent as when I woke up.

Jones, who works as an area manager for Wales & West Utilities gas distribution network, obviously had a break from rugby while he recovered - although not for too long.

He was with Cross Keys at the time, having joined them following a seven-year stint with his hometown club Treorchy, for whom he played more than 200 games.

One of the big questions I asked was whether it would prevent me playing rugby, but they said it would have no long-lasting effect, he said.

I was back training after about eight weeks and played my first game after around four months, towards the end of the season.

For about a year, every time I was having scrummaging sessions or a game, the bottom of my back was just aching.

I am a hooker, so I am right in the mix of it. The second rows were pushing right on the sore spot at the bottom of my spine.

"I'm over all that now and fortunately I am still able to play, but even if it had been the end of my rugby career, that's nothing to me really.

"I've still got my good health and I'm fortunate to be still here, with all my friends and family, and that young man wouldn't be, so I have no regrets at all and if I could do it again tomorrow, I would."

A year on from his procedure, Jones received notification the recipient had survived the transplant and last month there was an even more positive update.

The letter from Welsh Blood said the young man from Ireland was very well and had not suffered any major complications.

That makes it all worthwhile, said Jones.

Its very rewarding.

And it also raises the possibility of donor and recipient meeting up.

After two years, they get all my information, so they can contact me, he said.

If he wants to get in touch with me, I would love to hear from him, just to see how he is and meet him possibly. That would be phenomenal.

I am open to the idea of getting to know him, but obviously its totally down to the individual.

Now 29, Jones is in his second season with Pontypridd having switched to Sardis Road after two years with Cross Keys.

Im loving it there. They are a really great bunch of boys, he said.

Hes currently sidelined with a hamstring problem, but understandably such issues are pretty minor in the general scheme of things when you have been through the kind of experience he has.

Ask him whether he would do it all again if he had his time over, and he provides an emphatic answer.

100 per cent. I would do it again tomorrow, he said.

I have given that person at least two years extra.

The bone marrow is the last straw. If he hadnt had that, he probably wouldnt have been around today.

"So no regrets at all. You just give someone that little hope and I would definitely encourage people to think about going on the register.

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The selfless act of popular Welsh rugby player who risked his career to save the life of a stranger - Wales Online

Care plan or support can be defined as the method followed to provide physical and clinical support to an individual with health complications. For a proper care plan, it is essential to have conceptual clarity about the physiological status of the individual. Depending on the condition of the diseases, care planning also alters.

Without access to quality healthcare, people are subjected to various types of risks. From malnutrition to pregnancy, all can become quite dangerous without proper health and support. Intake of a proper diet and exercising regularly are some of the ways through which we can stay healthy.

How To Improvise Regular Health System:

1. The importance of visual observation

Visual observation is needed to notice on the patient in the slightest uneasiness of the attitude. Visual observation is equally important in eye care too. With visual observation, an expert ophthalmologist can know the problematic areas of your eyes. To be precise, visual observations should form an integral part of a healthcare practitioners core skills. Recording what was being observed can shed light on the progress made by the patients. Visual observation also helps to demonstrate areas of potential concerns.

Assessing the routine measures that provide information about body functioning

Some common illnesses associated with the eye

Age-Related Macular Degeneration

Reasons for taking Measures

To ensure that there is no harm to the retina.

2. BMI

The measurement of a persons Body Mass Index identifies the persons weight and height. BMI gives an indicator of body fat for most of the people that can go to health-related problems. BMI means Body Mass Index that is the ratio between weight and height.

3. Heart rate

Heartbeat means the speed of the heartbeat that is measured by the number of heart diastole and systole. The heart pumps during systematic gaps. Some activities can change the rates that are strenuous jobs, exercise, and tension. The usual rate of an adult can be 60 to 100 bpm. A lower rate can mean circulatory fitness.

4. Blood Pressure

It is vital for an adult blood pressure that is (120/80). It is the ideal blood pressure. A sphygmomanometer is to estimate blood pressure. The flow of blood through the blood vessel is measured in this way. Blood pressure depends on cholesterol in the blood as well.

Assessing the functioning of care planning and individuals:

Another example is the heart rate, which indicates the blood flow and ability of the heart to facilitate the blood flow throughout the body. However, during the stage of low blood circulation with a risk of myocardial infarction, angioplasty is recommended to increase the diameter of blood vessel coming out of the heart to improve the blood flow. On the other hand, if the expansions of vessels are more than the required level, it can lead to reduced blood pressure and declined blood flow to the body. Therefore it is essential while planning for care to know the blood pressure and blood flow rate, and accordingly, they make plans.

Precisely, there is a particular checklist for preparing a care plan involving the maintenance of a clinical summary of an individual. Keeping a record for unmet support practice and its impact on the patient is imperative. These practices for care plans can profoundly help in the formulation of effective care plans.

Comparing structural and functional alterations of the eye with advancing age:

With advancing age, one would encounter a variety of eye-related issues. The common age-related eye problems include glaucoma, presbyopia, age-related macular degeneration, and retinal problems. Thus, if you want to prevent your eye problems, never forget to visit a good eye care center like Eye7 Chaudhary Eye Centre, where experts are available to take care of you.

Aging is an inevitable phenomenon for all the cells in the body leading to alterations in connective tissues, nerve tissues, connective, and epithelial tissues. Cells become larger with age, less flexible, and lesser capabilities of cell division. Therefore, the possibility of producing new cells at the elderly age is a less likely incident except for the stem cells. Most of the cells at the old age stops functioning or acts abnormally. When a human body ages, it is generally observed that the skin becomes pale and the hair turns grey. In addition to that, the body function slows down.

Starting from childhood, connective tissues such as bone and blood vessels grow till old age and then become stiff. Usually, there are three main types of connective tissues. Further, the structure of cell membranes alters and becomes less active in procuring oxygen and energy from food. Body cells also lose their capability to expel carbon dioxide as well.

As the cells and tissues change, they exert their cumulative effect on the entire organ by changing their structure and functional abilities. At the age of 20 years, the heart muscle can pump out blood at a rate of 10 times higher than is needed for keeping the body alive, and this efficiency declines by 1% each year.

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The Physiological Principles in Health and Social Care One Must Know - Times of India

MEDIA CONTACT: JJ Scarbrough

WASHINGTON UNIVERSITY ST. LOUIS SCHOOL OF MEDICINE OPTHALMOLOGY PROVIDES VALUABLE FUNDING TO KIDS VISION FOR LIFE ST. LOUIS

ST. LOUIS (February 19th, 2020) Washington University St. Louis School of Medicine Ophthalmology recently provided funding to equip 1,000 students with prescription eyeglasses through Kids Vision for Life St. Louis (KVFL) mobile clinic program. Research indicates, upwards of 67% of children never see an eye doctor after the parent or guardian is notified of a vision impairment through an initial screeningdespite the school districts' continued efforts to follow-up. Barriers that prevent follow-up often include: 1) family economics, 2) lack of transportation, 3) loss of work to take a child for appointments, and 4) lack of awareness of the importance of being able to see well in order to read and learn well.

KVFL provides free vision services and eyeglasses for elementary students in low-income areas. Over 60,000 screenings are conducted annually at 175 schools in the St. Louis area.

I appreciate you coming to my school. I have been having a difficult time seeing in class. I cant wait to get my glasses! Thank you. Lily (Lift for Life Academy)

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Washington University St. Louis School Of Medicine Ophthalmology Provides Valuable Funding To Kids Vision For Life St. Louis - Suburban Journals

For Immediate Release: February 21, 2020

The U.S. Food and Drug Administration today authorized marketing of the first test to detect a genetic condition known as Fragile X Syndrome (FXS), the most common known cause of inherited developmental delay and intellectual disability. The test is intended as an aid in diagnosing FXS and is to be used along with the evaluation of a patients family history and clinical signs and symptoms of FXS. Additionally, this test is intended for use in adults who may be carriers of genetic alterations in the gene associated with FXS, called the FMR1 gene.

This novel diagnostic provides doctors and their patients the first FDA authorized genetic test to aid in diagnosing Fragile X Syndrome, as well as helping parents know their risk of having a child with Fragile X Syndrome, said Wendy Rubinstein, M.D., Ph.D., director of personalized medicine in the Office of In Vitro Diagnostics and Radiological Health at the FDAs Center for Devices and Radiological Health. Early diagnosis is key to helping children affected with Fragile X Syndrome through early intervention.

According to the Centers for Disease Control and Prevention, approximately 1 in 4,000 males and 1 in 8,000 females in the U.S. have FXS, which is a genetic disorder caused by changes in the FMR1 gene located on the X chromosome. A segment of the DNA in the gene, known as a CGG trinucleotide repeat, is repeated in excess on the X chromosome in individuals with this disorder. While some repetition of the CGG repeat is normal, a high number of repeats may indicate potential health risks. The AmplideX Fragile X Dx and Carrier Screen Kit uses blood specimens from patients to measure the number of repeats of the CGG segment in the FMR1 gene. The test can determine whether a patient has a number of CGG repeats that is considered either normal, intermediate, premutation or full mutation.

Individuals with a full mutation typically have FXS, which is associated with developmental delays, learning disabilities, social and behavioral issues, intellectual disabilities and autism spectrum disorder. Women with a premutation have an increased risk of having a child with FXS as compared to women without a premutation. The number of women who have the Fragile X premutation is believed to be approximately 1 in 150 women. Men with a premutation will pass the premutation to their daughters only. Individuals with normal or intermediate levels of repeated CGG segments are currently thought to be asymptomatic for FXS or other fragile X-associated disorders.

In addition to aiding in the diagnosis of FXS and for carrier testing, this test can be used as an aid in the diagnosis of fragile X-associated disorders, including fragile X-associated tremor/ataxia syndrome, which is a movement and cognitive disorder that typically occurs in adults over age 50, and fragile X-associated primary ovarian insufficiency, a condition that is characterized by reduced function of the ovaries. The AmplideX Fragile X Dx and Carrier Screen Kit is not intended for use in fetal diagnostic testing, the screening of eggs obtained for in-vitro fertilization prior to implantation, or standalone diagnoses of FXS.

The FDA reviewed data for this test through the de novo classification process, a regulatory pathway for low- to moderate-risk devices of a new type. During this process, the FDA evaluated data from specimens collected at three clinical sites to assess the accuracy of the test. The data demonstrated that the diagnostic accuracy of the test is greater than 95%.

Along with this authorization, the FDA is establishing criteria, called special controls, that test developers must meet for tests of this type, including requirements relating to labeling and performance testing. These special controls, when met along with general controls, provide a reasonable assurance of safety and effectiveness for tests of this type. This action also creates a new regulatory classification, which means that subsequent devices of the same type with the same intended use may go through the FDAs 510(k) pathway, whereby devices can obtain clearance by demonstrating substantial equivalence to a predicate device.

The FDA granted marketing authorization of the AmplideX Fragile X Dx and Carrier Screen Kit to Asuragen Inc.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nations food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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FDA Authorizes Marketing of the First Genetic Test to Aid in the Diagnosis of Fragile X Syndrome - FDA.gov

Governor Andrew M. Cuomo today announced a 30-day amendment to the FY 2021 Executive Budget which will include legislation to establish the SUNY Curing Alzheimer's Health Consortium within the State University of New York. The Consortium will work to identify genes that predict an increased risk for developing Alzheimer's and collaborate with public and private research institutions on projects and studies to identify opportunities to develop new therapeutic treatment and cures for Alzheimer's. The goal of the Consortium will be to map the genetics of 1 million people, suffering from or at-risk of developing Alzheimer's Disease, over 5 years. This new wealth of data will support researchers as they work towards developing newtreatments and cures for the disease.

"Alzheimer's Disease affects hundreds of thousands of New Yorkers each year and takes a devastating toll on both patients and caregivers who lack access to sufficient treatment options due to an insufficient body of research"Governor Cuomo said."Genomics have made significant progress in the diagnosis and treatment of diseases ranging from cancer to cardiovascular disease, and could present major breakthroughs in the fight against Alzheimer's Disease. The Curing Alzheimer's Health Consortium will collect genomic data on a statewide scale and support genetic researchers as they work to slow the deadly progress of this disease."

SUNY will issue a request for proposals in partnership with Empire State Development's Life Sciences Initiative for private providers to partner with the SUNY system and other not-for-profit and private hospitals, and non-profit higher education research institutions to map the genomes of individuals suffering from or at risk of Alzheimer's.The ESD Life Science Initiative will provide $20M in existing funding to the Consortium to identify and recruit 200,000 people for genetic testing as part of phase one of the initiative.

Entities awarded the RFP will partner with SUNY's systems, including SUNYUpstate Medical, SUNY Downstate Medical, Renaissance School of Medicine at Stony Brook University,Jacobs School of Medicine and Biomedical Sciences at University at Buffalo, as well asother medical centers and hospitals,to launch an initial phase of their partnership that will map 1 million people suffering from, or at risk of, Alzheimer's over 5 years.Upon completion of the mapping, the resulting database will be made freely available to advance research on Alzheimer's Disease.

Alzheimer's in New York

According to the Department of Health, in 2017 an estimated 390,000 individuals in New York State suffered from Alzheimer's Disease, a figure that is expected to increase to 460,000 by 2025. Despite its prevalence, there remains a concerning lack of research and available treatment options to address Alzheimer's, which contributes to staggering disability and disease burden for patients, their families and society, and billions in economic costs annually to the State

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Governor Cuomo Announces 30-Day Amendment to FY 2021 Executive Budget to Establish SUNY Curing Alzheimer's Health Consortium - ny.gov

In 2004, Dr. Michael Ackerman got an unexpected phone call.

On the other end of the line was a medical examiner in Kentucky who had recently performed a befuddling autopsy on a 12-year-old Amish girl.

He was perplexed why this seemingly healthy Amish child died suddenly during play, said Ackerman, a genetic cardiologist at Mayo Clinic who studies why some young people die unexpectedly. And he says, I have DNA for you.

Ackerman, who also leads Mayos Windland Smith Rice Sudden Death Genomics Laboratory, pioneered a postmortem test to detect genetic causes behind sudden death. The medical examiner in Kentucky had heard about his work.

That phone call would ignite more than a decade of genetic sleuthing across multiple states to understand why a healthy Amish child had died without an obvious explanation. The mystery of her death and later, the deaths of more than a dozen other Amish children would vex researchers and clinicians for years, until Ackerman and his colleagues finally made a breakthrough in their Mayo lab.

Those findings were recently published in the JAMA Cardiology medical journal. Now, those same researchers are working to find a treatment.

Not long after the medical examiners call in 2004, Ackerman and his team were just beginning their research into the girls DNA when tragedy struck again. Four months after losing their daughter, the family lost her 10-year-old sister under similar circumstances suddenly, while she was outside playing.

Ackerman said his research team had a hunch the siblings deaths involved a gene called RYR2. When there's a single error on the gene, it causes an irregular heart rhythm that often reveals itself in the form of fainting spells while exercising. It can be fatal.

But that was more than 15 years ago, and medical research tools hadnt quite caught up to the teams needs.

Back then, it was painfully slow. It sort of was one gene at a time, Ackerman said.

After extensive testing of the girls' DNA, the Mayo researchers still had no answers.

We basically had a project that was stalled and would stay stalled until we would have evolution of technology, Ackerman said.

Over the next decade, 16 more Amish children died while exercising, without warning. The same family that lost their daughters in 2004 lost two more children under similar circumstances. Amish children in other states died, too.

While Mayos research languished, more than a thousand miles away, doctors at the Nemours/Alfred I. duPont Hospital for Children in Wilmington, Del., encountered a similarly tragic story.

In 2005, a young, apparently healthy Amish child was playing and died suddenly. The autopsy revealed no obvious cause. Several years later, the girls sister experienced cardiac arrest but survived and she is still living, 15 years later.

This started a trend, essentially, in their family, said Kristi Fitzgerald, a genetic counselor at Nemours and an author of the JAMA paper. Its not just a fluke chance, a terrible, tragic event. Now with two girls in one family, the presumption was that this probably was a genetic cause, something to do with a genetic arrhythmia.

But just as in Ackermans lab in Rochester, Minn., genetic testing at Nemours turned up nothing.

Over the years, Nemours staff collaborated with Mayo staff, and in the process learned that the sisters who had died in Kentucky were from the same extended family as the child who had died in Delaware.

Researchers also identified additional relatives in Iowa who have the same genetic defect. To date, no members of Amish communities in Minnesota appear to have the condition.

Clinicians at Mayo and elsewhere are fiercely protective of the families affected, and declined to identify them to maintain their privacy.

In Rochester, Ackerman and his staff continued to collect DNA samples from the children who died in this perplexing way, hoping someday to figure out the cause of their death.

They just needed the technology to catch up. In 2016, it started to.

Ackerman said new testing techniques revealed that the sudden deaths weren't caused by just one error on the RYR2 gene they were caused by 300,000 of them.

What's more, the risk of sudden death came only when the children inherited that faulty gene from both parents.

"We basically did genomic triangulation and figured that all of these sudden deaths and all of these different Amish communities were happening for the exact same reason: a double whammy, a double hit of this exact same duplication, Ackerman said.

Nemours pediatrician Matthew Demczko has made a career working with Amish children who live with an array of genetic abnormalities.

He said the genetic heart defect detected by the Mayo team is likely unique to the Amish community. Thats because researchers think people with the defect are all connected to a small number of people who established a particular Amish community from which the children affected were all descended. Those people are what Demczko calls "founder individuals."

Their genetic information has now become sort of the genetic thumbprint of the entire community, he said.

Demczko said Amish communities tend to be small and insular, and members of the community typically marry and have children with people who are also Amish.

That factor on top of the idea that from a cultural perspective, very few individuals come into the Amish community, there's really no introduction of new genetic material, he said.

Beating heart cells engineered from blood donated by two people living with a condition that has caused the sudden deaths of Amish children are shown on a microscope screen inside of the Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory.

Evan Frost | MPR News

Fitzgerald, Demczkos colleague, is on the front lines of screening members of Amish communities in their region for the defect. She said that Nemours positive reputation in nearby Amish communities helps in her work.

Word of mouth is important, she said. I think that's a great source of referral, to have a patient to say, We had a good experience. This went well.

Fitzgerald said her Amish patients ask the same questions about genetic testing as other families do: What will the test tell them? Why is the test important? What will they do with the information if they test positive?

And she said it's a misconception that Amish people shun medicine.

The families shes worked with, she said, have been open to testing and treatment.

"Parents want what's best for their child. It's about building a relationship, you know, with the family, she said. Most are not at all skeptical."

Fitzgerald said that some parents whose children have tested positive for the condition have opted to get an implantable defibrillator, which is the only available treatment.

But many Amish families dont carry health insurance, so that solution is not only invasive, but can be prohibitively expensive.

Back at Mayo, researcher Dave Tester is trying to better understand the genetic defect he helped discover. Now that theyve pinpointed the cause of the childrens sudden death, theyre trying to find a more affordable and accessible treatment.

"This is sort of phase 2 in this study, said Tester, who also authored the JAMA article.

To do that, the researchers turned to another novel approach: They engineered beating heart cells from blood samples donated by two people living with the condition.

He points to a cluster of heart cells undulating rhythmically under a microscope.

"These cells have the same exact genetic background that our patient does, he said. Here we can understand, at least from this patient's perspective what is the cell doing?"

Beating heart cells from blood samples donated by two people living with a condition that has caused the sudden death of Amish children.

Evan Frost | MPR News

In the coming months, Tester and his staff will perform a battery of tests on these cells, looking for clues that point them toward a better treatment.

But in the meantime, Mayo and Nemours continue to collaborate to understand just how common the condition is and how widespread. Their network has also extended to Iowa, where a genetic counselor is working with nearby Amish communities.

To ease that process, Mayo has made the test free for Amish families who may be affected.

Fitzgerald, the genetic counselor, is hopeful additional screening in Delaware and in other Amish communities will reveal more information about the condition.

And while she may not be able to offer her families a perfect solution today, at least they're starting to get some answers.

We don't want to give false hope, but I think it is important to tell families how far we come, she said. We tell people Hold on, stay tuned.

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Amish kids were dying mysteriously. Mayo scientists solved it. But can they treat it? - Minnesota Public Radio News

Any given morning,Megan Roche, MD, is probably out running -- but we're not talking about a standard 5K. Roche is the2016 USA Track and Field ultrarunner and sub-ultrarunner of the year, a five-time national ultrarunning champion, a North American Mountain Running Champion and six-time member of the U.S. world ultrarunning team.

When she's not scaling muddy mountains or competing in races up to 50 miles long, Roche is working on her PhD in epidemiology, after completing a medical degree at Stanford in 2018. Her research enables her to continue running, coaching andwriting about runningwith her husband, a fellow ultramarathon winner, all while delving into the science of athletic performance.

She slowed down long enough to talk with me about her love of running and science, and how these two passions shape her career path.

How did you become interested in running and taking on longer distances?

I always knew I loved running. I played field hockey in college and then I took a fifth year to run track. From there, it was just a natural progression. I love nature and time out on trails, so running longer distances just means covering more ground in beautiful places. Plus, I enjoy the physiology element of longer-distance running. I think there's a lot of different variables that go into the longer distances, like fueling, the mental mindset and metering out your effort.

Do you think about what's happening in your body while running longer races?

I do sometimes. But honestly, when it hurts, I try to turn that off and just have a completely blank brain. After the fact, it's fun to go through and think about the different cellular processes that are going on as your body is going through that pain and putting out power. Even though it's unpleasant, it's a really beautiful element of human physiology that we can push the body to its limits.

How do you balance a sport and a profession that are both so time-intensive?

I get almost all my training done in the early morning. I'm a morning person, which helps. When I run or exercise it actually makes me more time efficient -- I feel like I need that energy release. Getting in the training is a way to prime my brain for the rest of the day. I probably spend about 13 or 14 hours a week training, so in the grand scheme of things, these are just hours that make me more productive down the road.

Does your running impact your research and vice versa?

It definitely does. One of my research focuses is genetic predictors of sports injury in athletes, working withStuart Kim, PhD. Some of that research involves genetic consulting with athletes and oftentimes training questions come up.

Another study I'm working on is the Healthy Runner Project withMichael Fredericson, MD;Emily Kraus, MD, andKristin Sainani, MD, PhD. There, we're looking at stress fracture rates in Stanford track and field athletes, and looking at preventing bone stress injuries, primarily through a nutrition intervention and making sure that athletes have sufficient energy availability. Being able to connect with the research participants as athletes is helpful. I also apply Healthy Runner research in my work as a running coach and in my writing.

Have you tested your own genetics?

I have. Fortunately, they're actually pretty good, in terms of injury markers. I did rupture my high hamstring tendons, recently, so I will be searching for a hamstring marker down the road.

What are you most proud of in your life thus far?

For me, the decision not to go to residency was one that was very difficult. Heading into medical school, I was interested in being an orthopedic surgeon, but I realized that it just wasn't conducive to all the other things I have going on in life.

I'm proud of being able to step off that path, being okay with taking a "career swerve" and ultimately finding what I love. Every morning I wake up, and I'm so excited to do the science and the running that I do with inspiring mentors and people that I care about. I'm proud of the decisions that got me to that point and grateful for the balance that I've found.

Photo by Daphne Sashin

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She's an ultrarunning champion, studying the genetics of sports injury - Scope

Waldron has already lived considerably longer she turns 19 on March 1. She credits lonafarnib, an experimental medication shes taken since 2007 in clinical trials at Boston Childrens Hospital. A California drug firm plans to complete its application for approval by March 31, with the hope of a favorable ruling from the Food and Drug Administration by years end. It would be the first approved drug for the ultra-rare disease.

Its been proven that it helps in extending life, Waldron, a Deerfield native, said recently over hot chocolate at Caffe Nero near Emerson. Im almost 19. The life span is technically 14. A winsome smile brightened her face. Looks like its doing a good job.

Since 2007, Childrens Hospital has run four clinical trial of lonafarnib. Waldron has participated in all four, and researchers say the results are encouraging.

In perhaps the most compelling finding, a study published by the Journal of the American Medical Association in 2018 reported that children with progeria who took lonafarnib capsules twice a day had a dramatically lower mortality rate than those who didnt.

After slightly more than two years, one in 27 children who took lonafarnib, or 3.7 percent, had died compared with nine in 27 who didnt get it, or 33 percent, according to the article by a team of researchers from the Progeria Research Foundation, Brown University, and Childrens Hospital. Lonafarnib appeared to slow the progression of cardiovascular disease, although it had little or no effect on other symptoms, including stiff joints, stunted growth, wrinkled skin, and loss of body fat and hair.

The data looks fantastic, said Dr. Leslie Gordon, lead author of the JAMA study and medical director and cofounder of the Progeria Research Foundation, the Peabody-based nonprofit that funded the trials. Youve got a fatal childhood disease with no treatment, and youve shown a survival benefit.

For Gordon, a professor of pediatric medicine at Browns medical school who practices at Boston Childrens Hospital and Hasbro Childrens Hospital in Providence, the quest to treat progeria is profoundly personal.

Her son, Sam Berns, a Foxborough High School junior, died of progeria in 2014 at age 17. Like Waldron, he began taking lonafarnib in 2007 in the clinical trials. An avid sports fan who played the snare drum in the Foxborough High School marching band, he was the subject of the 2013 HBO documentary Life According to Sam.

Gordon had never heard of progeria when Sam, her only child, was diagnosed with it at 22 months. She has since become an authority. In 2003, she was on the research team led by Dr. Francis S. Collins, director of the National Institutes of Health, that discovered the defective gene that causes the disease. She cofounded the progeria foundation with her husband and sister.

The genetic mutation that causes progeria results in an overabundance of the protein progerin. A buildup of progerin occurs within a cell in normal aging, but the rate of accumulation is dramatically accelerated in children with the disease. Progeria has no effect on a childs intellect, as anyone who meets Waldron who took an Advanced Placement class in European history in high school and rhapsodizes about Michelangelo can tell in an instant.

Lonafarnib was originally developed by the pharmaceutical giant Merck as a potential treatment for cancer. But researchers found that it can reverse an abnormality in cells of laboratory mice with progeria. Merck has licensed it to Eiger BioPharmaceuticals, a small drug maker in Palo Alto, Calif. David Cory, chief executive of Eiger, says the company has hired a chief commercial officer and a vice president of medical affair in anticipation of FDA approval.

Researchers are working on other potential treatments, including one that targets the genetic root of the disease. David Liu, a chemistry professor affiliated with the Broad Institute, Harvard University, and the Howard Hughes Medical Institute, recently announced that he and a team of scientists had used a new form of genome editing to correct the DNA mutation that caused the disorder in mice, extending their lives.

Waldron, who serves as an ambassador for the progeria foundation, said she was diagnosed with the disease when she was about 2. Her mother, a housekeeper at an assisted living facility, and her father, a solar energy contractor, were worried because she wasnt growing or gaining weight, and her hair was falling out.

Waldron realized she had progeria as an adolescent when she went on the foundations website and saw pictures of kids who looked like her, she said.

Obviously, I knew that I was different before that, she said. But it wasnt an awareness I-have-progeria thing until at a certain point.

The disease has hardly stopped her. She ran for the cross-country and track teams at the public Frontier Regional High School in Deerfield. She played violin in the middle school orchestra and cello in the high school orchestra.

She has met about a dozen other children with progeria from around the country at family weekends at the nonprofit Hole in the Wall Gang Camp in Connecticut for seriously ill children and their families.

When she started considering colleges, Waldron said, she had no interest in going to school in Boston. But she fell in love with the city on a visit to Emerson.

You can walk down the street or hop on a train and go anywhere, she said, citing the North End as one of her favorites places.

I have great friends," she added. "I always have.

Emerson has made several accommodations for her. For example, the college provides a stool for her to rest her feet on when she sits at a desk in her four classes. The handle on her wardrobe in her dorm room was lowered so she could reach it more easily.

Waldron says she generally feels fine despite problems with her joints. She has dislocated her right shoulder four times doing ordinary tasks, such as reaching for a light switch.

None of this has dimmed her spirit for adventure.

Meghan has a very strong personality. Shes driven, her father, Bill Waldron, said in a video posted last year on the progeria foundations Facebook page. I dont think she pays attention to the fact that she has progeria.

Indeed, after graduating from high school in June, she traveled in Europe alone for a month. The initial attraction was seeing Anne-Marie, a singer and occasional Ed Sheeran collaborator, perform in London. But Waldron decided she also wanted to experience Renaissance art. She visited Milan, Florence, Rome, Paris, and Dublin, staying in youth hostels along the way.

Waldrons parents were nervous, she said. She was, too, but only briefly.

There was a point of about five minutes when my parents said goodbye and I was getting on the plane where I started freaking out, she said, laughing. But then I was like, Oh, well. And then I was fine.

Jonathan Saltzman can be reached at jonathan.saltzman@globe.com

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Emerson student with one of the worlds rarest diseases is heartened that the first drug to treat it could be approved soon - The Boston Globe

Lecturer/Senior Lecturer in Genetic/Epigenetic Epidemiology

Job number ACAD104465Division/School Bristol Medical SchoolContract type Fixed Term ContractWorking pattern Part timeSalary 44,045-59,135 pro rata per annumClosing date for applications 01-Mar-2020

This is an excellent opportunity for a talented researcher at the early part of their independent career who has a track record of high quality applied/methodological research. You will join the Bristol Medical School, in one of the UKs leading centres for research in population health sciences. You will develop your programme of genetic or epigenetic epidemiology research in collaboration with colleagues within the School, and will work with multidisciplinary research teams within the cross-Faculty MRC Integrative Epidemiology Unit (headed by George Davey Smith). You will also contribute to teaching and administration for the Schools undergraduate and postgraduate programmes. Specifically, you will contribute to the current intercalated degree (iBSc) in Genomic Medicine, established in 2016, to prepare future doctors for the genomics revolution in healthcare.

The successful applicant will have a PhD in a relevant quantitative topic, a strong interest in genome-wide and genome sequence data within population-based studies and epidemiological studies of causation, and a track record of research published in high impact journals. You will be able to demonstrate your enthusiasm for making an effective contribution to the teaching and organisation of our undergraduate and postgraduate teaching programmes and to supervising postgraduate students. In addition, you will be able to demonstrate your abilities in research administration, and in the successful supervision of junior staff.

For informal queries please contact: Kate Tilling, kate.tilling@bristol.ac.uk

We welcome applications from all members of our community and are particularly encouraging those from diverse groups, such as members of the LGBT+ and BAME communities, to join us.

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Lecturer/Senior Lecturer in Genetic/Epigenetic Epidemiology job with UNIVERSITY OF BRISTOL | 197245 - Times Higher Education (THE)

Do I know Im at risk for developing dementia? You bet.

My father died of Alzheimers disease at age 72; my sister was felled by frontotemporal dementia at 58.

And thats not all: Two maternal uncles had Alzheimers, and my maternal grandfather may have had vascular dementia. (In his generation, it was called senility.)

So what happens when I misplace a pair of eyeglasses or cant remember the name of a movie I saw a week ago? Now comes my turn with dementia, I think.

Then I talk myself down from that emotional cliff.

Am I alone in this? Hardly. Many people, like me, whove watched this cruel illness destroy a family member, dread the prospect that they, too, might become demented.

Judith Graham (left) with her sister, Deborah.(Courtesy of Judith Graham)

The lack of a cure or effective treatments only adds to the anxiety. Just this week, news emerged that another study trying to stop Alzheimers in people at extremely high genetic risk had failed.

How do we cope as we face our fears and peer into our future?

Andrea Kline, whose mother, as well as her mothers sister and uncle, had Alzheimers disease, just turned 71 and lives in Boynton Beach, Florida. Shes a retired registered nurse who teaches yoga to seniors at community centers and assisted-living facilities.

I worry about dementia incessantly. Every little thing that goes wrong, Im convinced its the beginning, she told me.

Because Kline has had multiple family members with Alzheimers, shes more likely to have a genetic vulnerability than someone with a single occurrence in their family. But that doesnt mean this condition lies in her future. A risk is just that: Its not a guarantee.

The age of onset is also important. People with close relatives struck by dementia early before age 65 are more likely to be susceptible genetically.

Kline was the primary caregiver for her mother, Charlotte Kline, who received an Alzheimers diagnosis in 1999 and passed away in 2007 at age 80. I try to eat very healthy. I exercise. I have an advance directive, and Ive discussed what I want [in the way of care] with my son, she said.

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Lately, Ive been thinking I should probably get a test for APOE4 [a gene variant that can raise the risk of developing Alzheimers], although Im not really sure if it would help, Kline added. Maybe it would add some intensity to my planning for the future.

I spoke to half a dozen experts for this column. None was in favor of genetic testing, except in unusual circumstances.

Having the APOE4 allele [gene variant] does not mean youll get Alzheimers disease. Plenty of people with Alzheimers dont have the allele, said Mark Mapstone, a professor of neurology at the University of California-Irvine. And conversely, plenty of people with the allele never develop Alzheimers.

Tamar Gefen, an assistant professor of psychiatry and behavioral sciences at Northwestern Universitys Feinberg School of Medicine, strongly suggests having an in-depth discussion with a genetic counselor if youre considering a test.

Before you say I have to know, really understand what youre dealing with, how your life might be affected, and what these tests can and cannot tell you, she advised.

Karen Larsen, 55, is a social worker in the Boston area. Her father, George Larsen, was diagnosed with vascular dementia and Alzheimers at age 84 and died within a year in 2014.

Larsen is firm: She doesnt want to investigate her risk of having memory or thinking problems.

Ive already planned for the future. I have a health care proxy and a living will and long-term care insurance. Ive assigned powers of attorney, and Ive saved my money, she said. Eating a healthy diet, getting exercise, remaining socially engaged I already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a test sit around and worry? Larsen said.

Currently, the gold standard in cognitive testing consists of a comprehensive neuropsychological exam. Among the domains examined over three to four hours: memory, attention, language, intellectual functioning, problem-solving, visual-spatial orientation, perception and more.

Brain scans are another diagnostic tool. CT and MRI scans can show whether parts of the brain have structural abnormalities or arent functioning optimally. PET scans (not covered by Medicare) can demonstrate the buildup of amyloid proteins a marker of Alzheimers. Also, spinal taps can show whether amyloid and tau proteins are present in cerebrospinal fluid.

A note of caution: While amyloid and tau proteins in the brain are a signature characteristic of Alzheimers, not all people with these proteins develop cognitive impairment.

Several experts recommend that people concerned about their Alzheimers risk get a baseline set of neuropsychological tests, followed by repeat tests if and when they start experiencing worrisome symptoms.

When it comes to thinking and memory, everyone is different, said Frederick Schmitt, a neurology professor at the University of Kentucky. Having baseline results is very helpful and allows us to more carefully measure whether, in fact, significant changes have occurred over time, he said.

Nora Super holds nieces Kylie and Lian Ascher on the couch beside Noras father, Bill Super, and her aunt Trudy Super.(Courtesy of Nora Super)

Nora Super, senior director of the Milken Institute Center for the Future of Aging, watched her father, Bill Super, and all three of his siblings succumb to Alzheimers disease over the course of several years falling, she said, like a row of dominoes.

One of her sisters was tested for the APOE4 genetic variant; results were negative. This is no guarantee of a dementia-free future, however, since hundreds of genes are implicated in Alzheimers, Lewy body dementia, frontotemporal dementia and vascular dementia.

Rather than get genetic or neuropsychological tests, Super has focused on learning as much as she can about how to protect her brain. At the top of the list: managing her depression as well as stress. Both have been linked to dementia.

Also, Super exercises routinely and eats a MIND-style diet, rich in vegetables, berries, whole grains, nuts, fish and beans. She is learning French (a form of cognitive stimulation), meditates regularly and is socially and intellectually active.

According to a growing body of research, physical inactivity, hearing loss, depression, obesity, hypertension, smoking, social isolation, diabetes and low education levels raise the risk of dementia. All of these factors are modifiable.

What if Super started having memory problems? I fear I would get really depressed, she admitted. Alzheimers is such a horrible disease: To see what people you love go through, especially in the early stages, when theyre aware of whats happening but cant do anything about it, is excruciating. Im not sure I want to go through that.

Gefen of Northwestern said she tells patients that if [cognitive testing] is something thats going to stress you out, then dont do it.

Nancy Smith celebrates her 81st birthday with sons Nigel (right) and Tim Smith.(Courtesy of Nigel Smith)

Nigel Smith, 49, had a change of heart after caring for his mother, Nancy Smith, 81, whos in hospice care in the Boston area with Alzheimers. When he brought his mother in for a neuropsychological exam in early 2017 and she received a diagnosis of moderate Alzheimers, she was furious. At that point, Nancy was still living in the familys large home in Brookline, Massachusetts, which she refused to leave.

Eventually, after his mother ended up in the hospital, Smith was given legal authority over her affairs and he moved her to a memory care unit.

Now, shes deteriorated to the point where she has about 5% of her previous verbal skills, Nigel said. She smiles but she doesnt recognize me.

Does he want to know if something like this might lie in his future?

A couple of years ago, Smith said he was too afraid of Alzheimers to contemplate this question. Now hes determined to know as much as possible, not so much because Im curious but so I can help prepare myself and my family. I see the burden of what Im doing for my mother, and I want to do everything I can to ease that burden for them.

Kim Hall, 54, of Plymouth, Minnesota, feels a similar need for a plan. Her mother, Kathleen Peterson, 89, a registered nurse for over 50 years, was diagnosed with vascular dementia five years ago. Today, she resides in assisted living and doesnt recognize most of her large family, including dozens of nieces and nephews who grew up with Hall.

Hall knows her mother had medical issues that may have harmed her brain: a traumatic brain injury as a young adult, uncontrolled high blood pressure for many years, several operations with general anesthesia and an addiction to prescription painkillers. I dont share these, and that may work in my favor, she said.

Still, Hall is concerned. I guess I want to know if Im at risk for dementia and if there is anything I can do to slow it down, she said. I dont want what happened to my mother to happen to me. Probably, Hall speculated, shell arrange to take a neuropsychological exam at some point.

Several years ago, when I was grieving my sisters death from frontotemporal dementia, my doctor suggested that a baseline exam of this sort might be a good idea.

I knew then I wouldnt take him up on the offer. If and when my time with dementia comes, Ill have to deal with it. Until then, Id rather not know.

Judith Graham: khn.navigatingaging@gmail.com,@judith_graham

See more here:
Stalked by The Fear That Dementia Is Stalking You - Kaiser Health News

As a mystery illness started spreadingin China in late December, researchers at Inovio Pharmaceuticals were keeping aclose eye on what was happening, even before anyone knew the cause was acoronavirus.

The company, based in San Diego, is nostranger to the viruses. After MERS, which is caused by a different coronavirus, emergedin 2012, Inovio was one of the first to develop a still-experimental vaccinefor the disease. In the new outbreak, as soon as Chinese researchersposted the genetic makeup of the virus, dubbed SARS-CoV-2, the companysscientists sprang into action.

Wed all hoped that there would beenough overlap that our previously developed MERS vaccine would be helpful inthis case, says Kate Broderick, Inovios senior vice president for researchand development. Like MERS and SARS, the new virus is a coronavirus that usesRNA as its genetic material.

But in-depth analysis revealed that thetwo coronaviruses are too different for a vaccine against MERS, also known asMiddle East respiratory syndrome, to take down the new virus. So thecompanys researchers set about designing a new vaccine.

That design relies on a relatively newapproach to vaccine creation, one that the researchers used to develop the MERSvaccine. Traditional vaccines are composed of weakened or killed forms ofviruses or parts of viruses, including purified proteins. When injected into aperson, the immune system recognizes the virus as an invader and producesantibodies to stave off future invasions. But growing enough debilitated virusesor purifying enough proteins to make vaccine doses for millions of people can takemonths or even years.

So Inovio and other companies havedeveloped ways to make vaccines much more quickly. For their SARS-CoV-2 vaccine,Inovio scientists convert the viruss RNA into DNA and select pieces of thevirus that computer simulations have suggested will prod the immune system intomaking antibodies. Those selected bits of DNA are then inserted into bacteria,which produce large quantities of protein snippets to be used in the vaccine. Thisapproach drastically shortens the time it takes to make a vaccine. Atraditional vaccine takes two to three years to develop. For Inovios product,it took three hours to design and about a month to manufacture, Broderick says.

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Inovio started testing the vaccine inanimals at the beginning of February and hopes to begin safety tests in peopleby early summer.

Even so, Inovios vaccine is still atleast a year away from being widely used. As the number of cases of the novelcoronavirus disease, or COVID-19, continues to rise, several other groups are alsoracing to develop vaccines and therapeutics that take nontraditional approachesto fight the virus.

Researchers at the U.S. National Institute of Allergy and Infectious Diseases, working with the Cambridge, Mass.based biotechnology company Moderna, are developing a messenger RNA, or mRNA, vaccine that will stimulate the body to produce vaccine components. Messenger RNAs are copies of protein-making instructions encoded in the DNA of genes. Cellular machinery reads the mRNA instructions to build proteins.

Scientists have selected portions of SARS-CoV-2that may spark a vigorous immune reaction against the virus, says KizzmekiaCorbett, a viral immunologist at the NIAIDs Vaccine Research Center inBethesda, Md. The mRNA vaccine will tell human cells which viral proteins tomake, she says.

Were literally giving the cells agenetic code of our vaccine design, delivered as RNA that will tell cells, Hey,make this protein, says Corbett, who is the scientific lead on the centerseffort to develop the vaccine.

Those proteins Corbett wouldnt saywhich viral proteins will then prod the immune system to make antibodies toprotect against the virus. Since the body does all of the protein-productionwork with the mRNA vaccine, researchers can skip the time-consuming and costlystep of manufacturing vaccine proteins.

This strategy could be used to designvaccines against future coronaviruses or other emerging infectious diseases,Corbett says. What we feel we have developed is a universal strategy, beingable to quickly deploy a vaccine if another novel coronavirus should pop up,Corbett says. Other mRNA vaccines against MERS and other diseases are still inthe testing phase.

Corbett would not specify a timeline for her teams mRNA vaccine, but Anthony Fauci, director of NIAID, has said the mRNA vaccine could be ready for initial safety testing within months. But the researchers have yet to find a pharmaceutical company to manufacture the large quantities of mRNA doses that would be necessary for use by the general public, Fauci said February 11 in Washington, D. C., at a discussion of the new coronavirus at the Aspen Institute, a nonprofit organization.

Inovios experience with its MERSvaccine is one example of just how long it typically takes to make sure avaccine is safe and effective. Inovio conducted initial safety testing of theMERS vaccine in a PhaseI clinical trial from February 2016 to May2017. There were noserious side effects among the 75 healthy adult participants, theresearchers reported in 2019 in theLancet Infectious Diseases. The vaccine moved into a PhaseII trial in August 2018 to test safety in a larger number of people anddetermine whether the vaccine spurs the immune system to make protectiveantibodies. That trial is expected to wrap up later this year.

Even if everything goes swimmingly, theMERS vaccine must still pass Phase III safety and effectiveness testing beforebeing considered for approval by the U.S. Food and Drug Administration. Itsthe same gauntlet that all new vaccines and drugs must run.

Inovio and the NIAID/Moderna partnershiphave both received funding from the Oslo-based Coalition for EpidemicPreparedness Innovations. CEPI is also funding yet another type of novelvaccine development. CEPI and researchers from the University of Queensland inBrisbane, Australia, have found a way to clamp down on the coronavirus to keepit from infecting cells.

The Queensland group had already beenworking with CEPI on molecular clamp vaccines against other viruses for about ayear, says Trent Munro, a biotechnologist involved in the work. A molecularclamp is a protein stitched onto another protein, in this case the coronavirusspike protein. With SARS and MERS, spike proteins work a bit like malleablelock picks, changing shape to interact with a protein on the surface of humancells and gain entry into them. The 3-D structure of SARS-CoV-2s spike protein,reported online February 19 in Science,confirms the protein is also a shape-shifter.But the new coronavirus spike protein clings10 to 20 times as tightly to its target on human cells as the SARS versiondoes. Holding on tighter may help the new virus spread more easily from personto person, researchers say.

The molecular clamp the Queensland teamdevised keeps the spike protein from shape-shifting, locking it in a form that triggersantibody production and thus making it a potent vaccine, Munro says.

The team uses mammalian cells to producethe vaccine, and a specialized machine determines which cells are churning outclamped protein. With the machine, researchers can do things that would havetaken weeks before in just days, Munro says. Laboratory testing may start within weeks.Safety testing in people may begin in months, but it will take much longer for thevaccine to be ready for general use. When the Queensland group began workingwith CEPI to develop a molecular clamp vaccine, we thought it would take threeyears as a test case, Munro says. But the emergence of the new coronavirusforced the researchers to accelerate their efforts. Still, Munro estimates itwill be at least a year before the vaccine will be ready.

I know the timeline feels long, he says.I imagine it feels just unacceptable to those folks who are in areas ofserious outbreak, but at least we have a way of . . . pushing things forward asfast as possible.

CEPI has calls out for additionalvaccine development proposals. On January 31, the organization announced thatit would work with CureVac AG, based in Tbingen, Germany, to develop anothermRNA vaccine targeting the novel coronavirus.

Vaccines help keep people from gettinginfected with disease-causing organisms but may not help once someone isalready infected. But a shortcut to getting protection a shot of theprotective antibodies themselves may both prevent infections and treat them.

People who have recovered from infectionsretain antibodies in their blood against the virus or bacteria that caused theillness, often for years or decades. Such antibodies may give some protectionwhen the person encounters a similar infectious organism later on. But,crucially, these antibodies can also protect others. And quickly.

It can take weeks to months for vaccinesto prod the immune system into making protective levels of antibodies, says ChristosKyratsous, vice president of infectious disease research and viral vector technologiesat Regeneron Pharmaceuticals. Ebola vaccines, for example, take at least a weekto stimulate antibody production, but shots of antibodies offer immediateprotection, Kyratsous says. (Regeneron Pharmaceuticals,headquartered in Tarrytown, N.Y., is a major financial supporter of Society forScience & the Public, which publishesScience News.)

In studies conducted by other researchers,blood serum containing protective antibodies taken from people who hadrecovered from Ebola helped infected people recover from the disease. Doctorsand scientists in China have already begun using blood plasma from people whohave recovered from COVID-19 to treat people who are ill with the disease.

But giving people antibodies fromsurvivors doesnt always work. Regeneron and other companies have developedantibodies that can more reliably offer protection. Thecompany is already testing antibodies against Ebola and the MERS virus. Clinicalstudies and laboratory work with the companys MERS antibodies suggests thatthey can help protect against infection and treat established infections, Kyratsoussays.

The company isnow developing antibodies against the new coronavirus. We have learneda lot of things from the MERS project that we can now apply to the novelcoronavirus project, Kyratsous says.

For instance, the team has learned moreabout which viral proteins and parts of proteins make the best antibodytargets. Proteins on the surface of the virus that are needed for infection,such as the spike protein, are generally the best bets, he says.

Regeneron researchers have madeSARS-CoV-2 proteins in the lab and injected them into mice that have humanversions of antibody-producing genes. These humanized mice make fully humanantibodies, Kyratsous says, and could provide a ready supply. As soon as thoseantibodies are available, the company hopes to test their efficacy against thevirus in the lab. If that works, safety testing in animals and people may startsoon.

The team also hopes to work with peoplewho have recovered from COVID-19 to get antibody-producing cells from theirblood. But, Kyratsous says, harvesting antibodies from people isnt somethingthat can be easily scaled up.

Still, despite the rapid reaction ofthese and other scientists, vaccine and antibody protection for most people isstill far off.

In an acute situation, youre not justgoing to pull a vaccine out of your pocket, NIAID director Fauci said at theAspen Institute discussion. If the current outbreak proves to be really bad, theFDA may be able to authorize emergency use of promising vaccines that haventcompleted full safety and efficacy testing. But researchers wont know for atleast six months whether any of the vaccines in development help against SARS-CoV-2.

Other strategies to fight the new virus, including repurposing existing drugs used against other diseases, including HIV and hepatitis C, are also under way. But theres no clear winner yet among those candidates. For now, people exposed to the virus must rely on their own immune systems and supportive care from doctors and nurses to fight off the disease.

The reliable science journalism you count on is expensive. It takes professional reporters, editors, fact checkers, designers and digital producers to make sureScience Newsreflects the depth and breadth of science.We need your financial support to make it happen every contribution makes a difference.

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To tackle the new coronavirus, scientists are accelerating the vaccine process - Science News

All healthy families are alike, a DNA-conscious Leo Tolstoy might have written, and thereby entirely distinct from all thoseeach miserable in its own waywhose bodies or minds are threatened by their very bloodlines. But the Russian author would have been just as mistaken as he was in the famous opening lines of Anna Karenina, where he divided happy families from unhappy ones. As two remarkable books show, there is as much to link as there is to separate the cancer-stricken Gross family in Ami McKays recent memoir Daughter of Family G and the Galvins with their six schizophrenic sons, the subjects of Robert Kolkers forthcoming Hidden Valley Road. Over the course of decades, including times when medical orthodoxy was often intensely hostile to the idea of heritability in the diseases that devastated their families, the two American clans became significant factors in advancing genetic research into cancer and schizophrenia.

Together, their family stories touch on most of the burning issues in contemporary medicine, including the role of genes and their complex interplay with environmental factors in our fates, and the related issues of privacy, family ties and agencyespecially when it comes to the question of having children. There is something more, too, running through both books: the terror of choice. How many of us really want to know our likely futures or, even more forebodingly, those of our offspring?

READ:I am mine: This is what Alzheimers is like at 41

For Indiana-born McKay, now a well-known Nova Scotia-based novelist (The Birth House, The Virgin Cure), learning whether she carried the genetic mutation that had shortened her ancestors lives for more than a century was not an easy call. In 2000, after researchers finally detected the specific mutation that applied to our family through my moms DNA, I was one of the earliest to be asked if I wanted to be tested, she says in an interview. McKay, then 32, was slow to take up the offer because to know would be to have this thing that sits in the back of your head and doesnt go awayyou could never go back to being the way you were. Two factors finally sent her to the hospital lab in mid-September 2001, when she was acutely aware of headlines proclaiming Americas new normal in the aftermath of 9/11. One reason to accept her own new normal was my mom saying, Look, you know weve gone down this path for generationsthink about the benefits when doctors can no longer tell you that maybe you only have the flu or that you dont really need a colonoscopy at such a young age. That, and the fact McKay already had two sons. The mutation was known to never reappear once the genetic line of transmission was broken. If McKay was clear, so were her boys. If she was not, I had to know for their sake as well as mine.

What McKay went to find out was whether she had any of the five genetic mutations associated with Lynch syndrome, specifically the one on the MSH2 gene that had ravaged her most direct ancestors and closest relatives. The mutation predisposes a person, early in life, to at least 13 kinds of cancer, from colon to ovarian to brainit brings an 85 per cent chance of colon cancer with an average onset at the age of 49. McKays uncle was diagnosed with cancer at 26, her grandmother at 50, her mother at 58. The syndrome is named after physician Henry Lynch, known as the father of cancer genetics, who picked up the barely flickering torch of cancer syndrome studies from a pioneering pathologist of the early 20th century, Aldred Warthin. But Warthins concept and supporting data came from his seamstress, Pauline GrossMcKays great-great auntwho mentioned to him in 1895 that she expected to die young, like so many in her family. (She did, at 46, from cancer.) Thanks to the detailed family chart Pauline Gross provided to Warthin, the list of known Gross victims dates back to 1856. We are, McKay writes, the longest and most detailed cancer genealogy in the world. For many years, that genealogy was possibly the greatest single factor in keeping alive the notion of heredity in cancer research.

The health records of the Galvins do not stretch as far back as the Grosses, but their family genetics played an even more pivotal research role in an era when mental health professionals were leaning hard into an understanding of schizophrenia as a psychological and not physical disease. The Galvin family, which eventually settled in Colorado Springs, Colo., began expanding in 1945, when U.S. Air Force officer Don Sr. and Mimi had their first child, Don Jr. It didnt stop until 1965, a year after the baby boom itself: 10 boys, followed by two girls.

READ:Why understanding the biology of our minds could cure autism and schizophrenia

Don Jr., a good athlete and average student, who was no trouble at all to his parentsthey ignored the severe beatings he imposed on his younger brothers while growing uphad his first psychotic break before his last sibling was born. His illness became worse at college, and he was soon back in the parental home, separated from his wife. Meanwhile, brother No. 2, James, who also married very young, began hearing voices and attacking his wife. After he had seemingly recovered, the youngest children were often sent to stay with him when Don Jr. made their lives too chaotic or frightening. James began to sexually abuse his sisters, who, as they later revealed, had been somewhat deadened to abuse because brother No. 4, Brian, had already molested them. In 1973, Brian, 22, prescribed antipsychotic drugs, killed his girlfriend and himself. Two years later, 15-year-old Peter, brother No. 10, had a psychotic break shortly after watching his father have a stroke before his eyes; in 1976, it was the turn of Matt, 17, brother No. 9. By late 1978, there were three Galvin boys in different wards of the same state mental hospital.

The last son to be diagnosed, Joe, brother No. 7, had troubled Peters doctors years before while visiting his hospitalized siblings, but he seemedif only relativelyfine to his family. But, after a series of personal losses, he too began being overwhelmed by hallucinations in 1982 at age 25. Joe later told his mother that a family friend, a Catholic priest to whom Don Sr. and Mimi had often entrusted their boys, had molested them, while Mimi revealed to her adult daughtersafter they had confronted her about sending them to Jamesthat she too had been sexually abused as a child, by her stepfather.

In short, the Galvin household offered a horrifically rich mine of potential evidence for any theory of schizophrenias causes. And it did so at a time when psychiatrys nature vs. nurture battle raged on, with many experts still holding to the schizophrenogenic mother explanation. That thesis, articulated by the influential German-American psychiatrist Frieda Fromm-Reichmann in 1948, tormented mid-century parents by blaming the disease on severe early warp and rejection in infancy and childhood, as a rule, mainly from a schizophrenogenic mother. It didnt help that Mimia perfectionist averse to praising her children and secretly troubled by her own traumafit the (false) mother-as-bogeyman profile to a T. But if Mimi herself and the vast set of triggers that might have influenced her sons individual psychoses interested some psychiatrists, the basic Galvin arithmeticsix boys in one familycaptured the attention of researchers seeking a physical cause. By the mid-1980s they had collected blood samples from the Galvins, which soonunbeknownst to the familybecame part of numerous studies.

It was 2016 before the right test offered a breakthrough. Researchers worked with the DNA of only nine families, all of which had to have at least three individuals with schizophrenia and three without. The goal was to find a common genetic mutation, even if it was common only to a particular family, because that abnormality could indicate an overall biochemical pathway to schizophrenia. The study found it in all seven Galvin brothers who had provided blood (two had refused), in the SHANK2 gene, which encodes the proteins that help brain synapses transmit signals. Its not a smoking-gun cause-of-schizophrenia gene, but it does offer the potential pathway the researchers sought, even as it raises this question: why, when its likely all the siblings have that mutation, did some develop serious mental illness and others did not?

READ:What do you do when your wife starts talking to the devil?

In November 2016, after researchers had told the Galvin daughterstheir main points of contact with the familyabout what they had been doing with the family blood for decades and the SHANK2 findings, Margaret Galvin organized what she called a blood-drawing party for non-afflicted family members. These would provide control samples for further research. Shouldve been on Halloween, she joked to author Kolker. Some invitees came, those ready to acknowledge their genetic heritage, and some did not.

The family gatherings, the absent relatives and the fortifying humour are all ties that link the Grosses and the Galvins. These are familiar notes to McKay, who describes her family reunions in terms of everyday organizing: I bring the potato salad, you bring the pecan pie, we talk about cancer. As for those who fear advance knowledge of the future, McKays empathy can be interspersed with anger if children are involved. Likewise, the Galvin daughters investigated the chances of passing their brothers health onto their own children before they became pregnant, and watched those kids like hawks for any indication that early intervention was needed.

McKay still feels the same about knowing the truth for the sake of her children even though her own news did not turn out well: she has the mutation, and so too do both her sons. What matters now, she says, is to draw the key lesson: Do things now, dont waitand dont let this thing define your life.

This article appears in print in the March 2020 issue of Macleans magazine with the headline, Betrayed by their genes. Subscribe to the monthly print magazine here.

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Families betrayed by their own genes - Maclean's

By Jonny Lupsha, News Writer

According to NPR, trained alert dogs for diabetic owners sell for up to tens of thousands of dollars, and business is booming. The diabetic alert dog industry is unstandardized and largely unregulated, and the science on a dogs ability to reliably sniff out blood sugar changes is, at best, inconclusive, the article said. Several [dog training companies] have faced lawsuits or complaints recently from consumers who bought diabetic alert dogs that they say dont work. In Texas, a group of more than a dozen dog buyers sued a trainer for fraud and won a judgment for $800,000.

The article also cited a 2017 study that found that only three of 14 diabetic alert dogs tested better than random chance at detecting a change in a humans blood sugar levels. While diabetes affects more than 30 million Americans, many diabetics would benefit from learning more about the basic fundamentals of the disease, its treatment, and the serious consequences of not taking care of their health.

There are three types of diabetes mellitus: insulin-dependent type 1 diabetes can develop at any age, though it used to be considered juvenile diabetes presenting in children; non-insulin-dependent, or adult-onset, type 2 diabetes is the most common and usually presents in adults; and gestational diabetes occurs during pregnancy, and may or may not go away after childbirth. Professor Roberta H. Anding, Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital, said that 80 percent to 90 percent of diabetics suffer from type 2 diabetes. But what is type 2 diabetes?

In this case, the body makes insulin, but its not being effectively used by the body, Professor Anding said. This is diagnosed by having a fasting blood sugar of greater than 126 milliliters per deciliter, or an oral glucose tolerance test of greater than 200.

Studies of identical twins overwhelmingly show that type 2 diabetes is genetic. If one twin gets diabetes, the chance that the other twin gets diabetes is three out of four, Professor Anding said. We have now identified multiple different genes, or loci on genes, that will suggest that yes, there are some higher risk individuals. The Human Genome Project has identified over 17 genetic loci strongly associated with type 2 diabetes.

Despite genetics playing a major part in contracting type 2 diabetes, our environment also comes into play. One prevention study called the Diabetes Prevention Program did research into how effective diabetes prevention could be when properly applied, and the results were stunning.

They assigned people with blood sugars that were just below the level of pre-diabetes to one of three groups: placebo, standard care; metformin, which is a medication that is used to control diabetes; or lifestyle intervention, Professor Anding said. The lifestyle intervention included two and a half hours per week of physical activity and a healthier, low-fat, low-calorie diet.

Lifestyle intervention reduced the incidence of diabetes by 58 percent, where traditional pharmacology that is used for the same kind of circumstance reduced it by 31 percent.

Cutting calories is a good start, Professor Anding said, but controlling which fats you eat helps as well. She cited a high intake of omega-3 and omega-6 polyunsaturated fats as leading to lower risks of diabetes, as do diets with a lot of whole grains and cereal fiber.

Following diabetes prevention steps through healthy living has plenty of scientific backing, unlike the trend in using diabetic alert dogs to detect low sugars in diabetics.

Professor Roberta H. Anding contributed to this article. Professor Anding is a registered dietitian and Director of Sports Nutrition and a clinical dietitian at Baylor College of Medicine and Texas Childrens Hospital. She received her bachelors degree in Dietetics and her masters degree in Nutrition from Louisiana State University.

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Lawsuits Mount as Alert Dogs for Diabetics Fail to Live Up to Expectations - The Great Courses Daily News

Scientists around the world are scrambling to develop a vaccine to stop the spread of the new coronavirus, but the best candidate might be an experimental one stored in a Houston freezer.

The vaccine, developed by researchers at Baylor College of Medicine and University of Texas Medical Branch at Galveston researchers, effectively protected mice against SARS, or severe acute respiratory syndrome, the virus from the same family that spread in the early 2000s. The vaccine never progressed to human testing because manufacturing of it wasnt completed until 2016, long after SARS had burned out.

It generated zero interest from pharmaceutical companies, said Peter Hotez, a Baylor vaccine researcher and infectious disease specialist. Because the virus was no longer circulating, their response was essentially, thanks, but no thanks.

Hotez thinks the vaccine-in-storage can provide cross-protection against the new coronavirus, now officially named COVID-19, whose spread through China and, increasingly, to other countries has the world on edge. The virus, first detected in Wuhan, China, has now infected more than 75,000 people and killed more than 2,200, more than the 774 deaths from SARS. Although the bulk of the cases and deaths have occurred in China, COVID-19 now has been confirmed in 28 countries, the U.S. among them.

On HoustonChronicle.com: Coronavirus fears weigh on Houston economy as oil prices fall, businesses lose customers

The 34 cases in the United States 21 repatriated individuals and 13 travelers who fell ill after returning include three in Texas, an American citizen who was part of a group evacuated from China on a State Department-chartered flight, and two citizens on the Diamond Princess cruise ship. All three were taken to Lackland Air Force Base in San Antonio.

The Baylor-UTMB vaccine looks promising for COVID-19 because the virus so resembles SARS Hotez calls it SARS-2 which circulated between November 2002 and July 2003, mostly in mainland China and Hong Kong but also in Toronto, whose economy was so badly wrought by the outbreak that it needed a boost from a benefit concert featuring the Rolling Stones, Justin Timberlake and others to help shake the effects.

COVID-19 shares 82 percent of its genes with SARS and infects people through the same cell receptor, one of the spike-like proteins that stud the surface of coronaviruses and gives the family their name. The viruses originally jump from animals to people.

###

The two viruses, which have mostly resulted in deaths in the elderly and people with serious underlying conditions, both can cause a severe form of viral pneumonia characterized by fever, cough and breathing difficulties. The early thinking is that COVID-19 is less lethal than SARS but more contagious.

There is no licensed treatment or vaccine for either, just supportive care focused on the symptoms.

The hope that the Baylor-UTMB vaccine should provide at least some, if not full, protection has had Hotez working the telephone the last few weeks, pleading with pharmaceutical companies and federal scientific agencies to pony up the funding needed to move the vaccine into clinical testing. The vaccine is still a candidate for such testing because the team has tested its continuing usefulness every six months, when it removes a sample from the freezer.

It may require some tweaking, but its stable, said Dr. James LeDuc, director of the Galveston National Laboratory on the UTMB Galveston campus. Every virus is different, features some adaptations.

The laboratory, a high-security biocontainment facility for the study of exotic disease, recently received the live COVID-19, which it will use to test the vaccine in mice, to see whether the SARS vaccine protects against it too. The labs researchers created mice engineered to replicate the human disease.

###

Funding for clinical trials remains the big hurdle. Even with the new coronavirus circulating, Hotez has found few nibbles from pharmaceutical companies beyond the request to keep them informed and the suggestion their interest would pick up if the new coronavirus becomes a seasonal infection, like the flu.

Instead, Hotez is pinning his hopes for clinical trial funding on two grant proposals one to the British government; and another to the Coalition for Epidemic Preparedness Innovations, an Oslo-based coalition of charities (the Bill and Melinda Gates Foundation is a sponsor) and governments that aims to derail epidemics by speeding up the development of vaccines.

The Baylor-UTMB venture is just one of the many ongoing efforts to halt the coronavirus epidemic. About 300 scientists dialed in remotely to a World Health Organization meeting last week to fast-track tests, drugs and vaccines to help slow the outbreak. UT-Austin scientists published a paper in Science on their creation of the first 3D atomic-scale map of the spike protein the part of the virus that attaches to and infects human cells that should provide a road map for better vaccine development.

At least eight initiatives to develop new vaccines have been announced, most of which use new technology, such as a type sometimes called genetic immunization, that is considered highly promising but has not yet led to licensure. One Houston firm, Greffex, said it has used genetic engineering to create a COVID-19 vaccine it will now take to animal testing.

Hotez said he thinks the Baylor-UTMB vaccine has an advantage because its already been successfully tested in animals and because its based on classic vaccine technology, the same technology used, for instance, in approved vaccines for Hepatitis B and the human papillomavirus. He said the less-than-perfect match should provide protection in the same way flu vaccines provide protection even though theyre not perfect matches.

###

In addition to repurposing the SARS vaccine, the Baylor-UTMB team is working to develop a new vaccine targeting COVID-19. But Hotez acknowledged that work will take longer than the SARS vaccine. He said hes surprised Chinese officials havent reached out to him about testing the vaccine in China.

Baylors work is conducted through its Texas Childrens Hospital Center for Vaccine Development, whose mission involves fighting public health threats that affect people who live in poverty such as neglected tropical diseases and coronaviruses. It has made vaccines for neglected tropical diseases Chagas disease, schistosomiasis and hookworm, and the coronavirus MERS, or Middle East respiratory syndrome, the camel flu that originated in Saudi Arabia in 2012 and later was confirmed in South Korea. Unlike SARS, MERS does not resemble COVID-19.

On HoustonChronicle.com: Why Houston is uniquely situated to be better prepared for the coronavirus threat

But the question is, can any vaccine make it through clinical testing in time to make a difference in the fight against an emerging epidemic or pandemic?

LeDuc noted that there are no shortcuts to the testing required to prove vaccines are safe and effective in people, a process he acknowledges could take a year, during which time the disease may burn out.

Hotez said the only thing that might expedite testing is if the spread of the disease becomes dire, a sobering thought that some public health officials think is looking more and more likely as COVID-19 is diagnosed in more countries.

It is why Hotez laments the missed opportunities to develop and stockpile vaccines for SARS, MERS and even Zika, the mosquito-borne infection that emerged in 2014-2017 but then burned out.

Its like little kids soccer games where everyone just follows the ball, said Hotez. They all run to the ball when its one spot, then to the next spot where it goes and then the one after that. No one stays at the goal to play defense.

todd.ackerman@chron.com

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Is the vaccine to thwart the new coronavirus stored in a Houston freezer? - Houston Chronicle

Though common, these big phages would have been completely missed by traditional lab techniques. It used to be that scientists could only discover viruses by first growing themand they often filtered out anything above a certain size. In science, you tend to find what you look for. The huge phages dont fit the standard conception of what a virus should be, so no one went looking for them. But Banfield used a different method, which she pioneered in the 1990s: Her team took environmental samplesscoops of soil or drops of waterand simply analyzed all the DNA within to see what popped out. And once Banfield realized that the huge phages existed, it wasnt hard to find more.

Read: Beware the Medusavirus

Her team, including researchers Basem Al-Shayeb and Rohan Sachdeva, identified huge phages in French lakes, in Tibetan springs, and on the Japanese seafloor. They found the viruses in geysers in Utah, salt from Chiles Atacama Desert, stomach samples from Alaskan moose, a neonatal intensive-care unit in Pittsburgh, and spit samples from Californian women. All of these phages have at least 200,000 DNA letters in their genome, and the largest of them has 735,000.

The team included researchers from nine countries, and so named the new viruses using words for huge in their respective languages. Hence: Mahaphage (Sanskrit), Kaempephage (Danish), Kyodaiphage (Japanese), and Jabbarphage (Arabic), but also Whopperphage (American English).

These huge phages have other strange characteristics. With so much DNA, the viruses are probably physically bigger than typical phages, which means that they likely reproduce in unusual ways. When phages infect bacteria, they normally make hundreds of copies of themselves before exploding outwards. But Banfield says that an average bacterium doesnt have enough room to host hundreds of huge phages. The giant viruses can probably only make a few copies of themselves at a timea strategy more akin to that of humans or elephants, which only raise a few young at a time, than to the reproduction of rodents or most insects, which produce large numbers of offspring.

Giant phages also seem to exert more control over their bacterial hosts than a typical virus. All viruses co-opt their hosts resources to build more copies of themselves, but the huge phages seem to carry out a much more thorough and directed takeover, Banfield says. Their target is the ribosomea manufacturing plant found in all living cells, which reads the information encoded in genes and uses that to build proteins. The huge phages seem equipped to fully commandeer the ribosome so that it ignores the hosts genes, and instead devotes itself to building viral proteins.

This takeover involves an unorthodox use of CRISPR. Long before humans discovered CRISPR and used it to edit DNA, bacteria invented it as a way of defending themselves against viruses. The bacteria store genetic snippets of phages that have previously attacked them, and use these to send destructive scissorlike enzymes after new waves of assailants. But Banfields team found that some huge phages have their own versions of CRISPR, which they use in two ways. First, they direct their own scissors at bacterial genes, which partly explains why they can so thoroughly take over the ribosomes of their hosts. Second, they seem to redirect the bacterial scissors into attacking other phages. They actually boost their hosts immune system to take out the competition.

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A Huge Discovery in the World of Viruses - The Atlantic

Feb 21, 2020 03:56 PM EST

Parallel to the rapid spread of coronavirus from Wuhan China to 25 countries across the globe, spread of myths and even scientific studies with no peer reviews or 'preprints' on the novel virus has become viral and is contributing to fear and panic across the globe.

Even public health scientists have issued a statement condemning conspiracy theory claims on the origin of coronavirus. To combat confusions, World Health Organization stepped up and called for promotion the of scientific evidence and unity over misinformation and conjecture.

Preprints

Some scientific reports have linked coronavirus to AIDS, snakes, and even to pathogens from outer space. Reuters estimate that there are at least 153 studies ranging from genetic analyses, epidemiological papers, genetic analyses, and clinical reports from 675 researchers around the globe since the outbreak started. In contrast, during the SARS outbreak in 2003, such number of papers were published after more than a year from the outbreak.

The outbreak, according to Tom Sheldon, a science communications specialist at Britain's non-profit Science Media Centre led to the rise of "preprints" - or a practice in which a researcher immediately posts their findings online without external checks, scrutiny or validation. This, according to Sheldon leads to misinformation, fake-news leading to fear, panic, and confusion of the public.

Scientists Condemn Bogus Coronavirus Conspiracy Theory

Public health scientists yesterday issued a statement published in Lancelet condemning multiple social media posts and even a scientific paper speculating the possibility that COVID-19 has no natural origin, and that the virus was bioengineered in the laboratory.

The statement declared that based on studies, scientists from multiple countries overwhelmingly conclude that the 2019 new coronavirus originated from wildlife. "Conspiracy theories do nothing but create fear, rumors, and prejudice that jeopardize our global collaboration in the fight against this virus," the statement adds. It also issued support to Chinese public health workers and scientists who are in the front line of fighting the disease.

Earlier, multiple media posts also claimed that coronavirus has been patented and that a vaccine is already available was debunked by Factcheck.Org, clarifying that there is no available vaccine for the 2019 novel coronavirus, and there is no patent available yet.

It turned out that the patent being referred to is genetic sequence of the virus that causes SARS, or severe acute respiratory syndrome, a disease that spread to dozensof countries in 2003, and of avian infectious bronchitis virus, or IBV, which infects poultry, and was developed to prevent and control viral diseases of livestocks.

WHO Steps Up to Bust Myths

As fears and misconceptions rapidly spread online, World Health Organization (WHO) Director General called for promotion of scientific evidence and unity over misinformation and conjecture. Graphics featuring myths busted by the WHO were created for easy downloading and dissemination.

Important and life-saving advisory such as the pneumococcal vaccine and the Haemophilus influenza type B do not provide protection against the new virus, or that there is no evidence that companion pets such as cats or dogs can be infected by coronavirus are among the those highlighted in the WHO advisory.

2018 NatureWorldNews.com All rights reserved. Do not reproduce without permission.

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The Viral Spread of Coronavirus Research and Myths - Nature World News

Indiana University trustees have approved the appointment of 15 faculty members as distinguished professors, IU's highest academic title for its most outstanding and renowned scholars and researchers. This is the largest number of new distinguished professors to be appointed in the university's history.

The record number is being recognized in honor of IU's Bicentennial Year and to highlight the remarkable research, scholarship and creative accomplishments of IU's past and present faculty as well as their public impact over the past 200 years.

"Faculty honored with the title of distinguished professor -- a title reserved for only the most highly acclaimed and accomplished IU faculty -- truly are among the finest scholars and researchers in the world," IU President Michael A. McRobbie said. "This prestigious appointment celebrates those who have earned national and international recognition and who have strengthened and transformed their fields of study through their research, scholarship, innovation and creative contributions to the world. They were chosen from the largest and best pool of candidates in IU's history.

"Our students and our campuses benefit enormously from the superb academic achievements, engagement and academic integrity of the faculty who have earned appointment as IU distinguished professor and who have been central to the reputation for excellence that IU enjoys as it begins its third century."

Distinguished Professor Symposia in Bloomington and Indianapolis to honor the 15 new distinguished professors will be announced in the coming weeks. Below are brief biographies of the appointees:

Lisa Blomgren Amsler is the Keller-Runden Professor of Public Service in the O'Neill School of Public and Environmental Affairs. Her research examines dispute systems design and the legal infrastructure for collaboration, dispute resolution and public participation in governance. She has co-edited three books and authored more than 120 articles, monographs and book chapters. She joined the IU faculty in 1989 after practicing labor and employment law.

Lynda Bonewald is a professor of anatomy and cell biology and of orthopedic surgery in the School of Medicine. She is the founding director of the Indiana Center for Musculoskeletal Health, which has more than 100 members from 36 departments on four campuses. She has been continually funded by National Institutes of Health for more than 30 years and is responsible for tools used by researchers globally to determine osteocyte biology and function.

Ann Elsner is a professor in the School of Optometry. Her research led to the discovery that infrared light can image the retina, and she has studied a range of retinal pathologies with a focus on diabetic retinopathy, age-related macular degeneration and normal aging of the eye.

Loren Field is a professor of medicine, of physiology and biophysics, and of pediatrics in the School of Medicine. Field and his IU colleagues were the first to show that relatively simple genetic modifications can induce mammalian heart cells to regenerate. His current research is focused on identifying genes and molecules that promote heart muscle regeneration by coaxing healthy cells to proliferate. The success of this research would offer the potential for seriously ill patients whose tissue has been damaged by heart attack to "re-grow" their own hearts.

Charles Geyh is the John F. Kimberling Chair and professor in the Maurer School of Law. His scholarship focuses on the operation of state and federal courts in relation to the political branches of government and the legal profession. His work on judicial independence, accountability, administration and ethics has appeared in more than 80 books, articles, book chapters, reports and other publications.

David Giedroc is a Lilly Chemistry Alumni Professor and director of the Graduate Training Program in Quantitative and Chemical Biology in the College of Arts and Sciences' Department of Biology. His research interests include the biophysical chemistry of infectious disease. Giedroc is a fellow of the American Association for the Advancement of Science and the Royal Society of Chemistry.

Jeffrey Gould is a Rudy Professor of History in the College of Arts and Sciences' Department of History. He is a groundbreaking historian, writer and filmmaker whose work has transformed scholarship on social movements in Nicaragua and El Salvador. He helped build the Center for Latin American and Caribbean Studies into one of the leading research centers of its kind. He's authored several books and articles, and several have been published in Spanish.

Roger Innes is a Class of 1954 Professor of Biology in the College of Arts and Sciences' Department of Biology. His lab work primarily focuses on understanding the genetic and biochemical basis of disease resistance in plants. He's investigating how plants are able to recognize pathogens and actively respond. The research is funded by two grants from the NIH and has recently been featured in the European journal International Innovation.

Filippo Menczer is a professor of informatics and computer science in the Luddy School of Informatics, Computing and Engineering. His research, supported by the National Science Foundation, Department of Defense, McDonnell Foundation and Democracy Fund, focuses on web and data science, social network analysis, social computation, web mining and modeling of complex information networks. His work on the spread of information and misinformation on social media has been covered by many national and international news outlets.

Mark Messier is a Rudy Professor of Physics in the College of Arts and Sciences' Department of Physics. His research focuses on the experimental study of neutrinos, which are among the most abundant particles in the universe. He is a member of the Deep Underground Neutrino Experiment, which is made up of more than 1,000 collaborators from 190 institutions in over 30 countries. DUNE advances work in each of the key areas of physics research.

Osamu James Nakagawa is the Ruth N. Halls Professor and professor of photography and studio art in the Eskenazi School of Art, Architecture + Design. His photography has been published, reviewed and exhibited internationally. He has permanent collections on display at several museums, including the Metropolitan Museum of Art in New York, the International Museum of Photography at the George Eastman House, the Tokyo Metropolitan Museum of Photography and the Museum of Contemporary Photography in Chicago.

G. David Roodman is the Kenneth Wiseman Professor of Medicine in the School of Medicine. His research focuses on osteoclasts and osteoblast activity in both normal and pathological states, including Paget's disease and multiple myeloma. Roodman's lab pioneered the development of long-term marrow culture techniques to study osteoclast differentiation and activity.

Chandan Sen is the J. Stanley Battersby Chair and professor of surgery at the School of Medicine. He and a team of more than 30 scientists study how to tap into the power of regenerative medicine and engineering to heal burns, develop new therapies for diabetic complications, treat injured soldiers and even regrow damaged and diseased tissue. Sen has published more than 300 articles and is cited more than 900 times a year in literature.

Marietta Simpson is a Rudy Professor of Music in the Jacobs School of Music. She is one of the most sought-after mezzo-sopranos and is greatly admired for the rich beauty of her deeply expressive voice. Simpson has performed with many of the world's great conductors and has performed with all the major orchestras in the U.S. and most of those in Europe.

David Williams is the Harry G. Day Chair and Professor of Chemistry in the College of Arts and Sciences' Department of Chemistry. He is an internationally recognized scientist in the field of organic chemistry. His research is focused on the synthesis of biologically active natural products and the development of new reaction methods. He serves on a number of advisory boards, including for the NI H. Williams is a fellow of the American Association for the Advancement of Science.

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Record number of faculty appointed as distinguished professors in honor of IU's Bicentennial Year - IU Newsroom

According to a recent study, increased levels of stress hormone cortisol in young children who are separated from their parents, especially mothers, could have a long-term genetic impact on future generations.

In an analysis published by the Journal of the Royal Society of Medicine, experts in the emotional needs of small children say that several studies show that small children cared for outside the home, especially in poor quality care and for 30 or more hours per week, have higher levels of cortisol than children at home.

Professor Sir Denis Pereira Gray, who wrote the paper with two colleagues, said: Cortisol release is a normal response to stress in mammals facing an emergency and is usually useful. However, sustained cortisol release over hours or days can be harmful.

The authors said that raised cortisol levels are a sign of stress and that the time children spend with their parents is biologically more important than is often realised.

Raised cortisol levels are associated with reduced antibody levels and changes in those parts of the brain which are associated with emotional stability.

Environmental factors interact with genes so that genes can be altered, and once altered by adverse childhood experiences, can pass to future generations. Such epigenetic effects need urgent study, said the authors.

Sir Denis added: Future research should explore the links between the care of small children in different settings, their cortisol levels, DNA, and behaviour.

(This story has been published from a wire agency feed without modifications to the text.)

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Stress in kids separated from parents may leave long-term genetic impact - Hindustan Times

Are you genetically predisposed to some diseases? Do you carry genetic mutations that can impact the health of your child? A debit card-sized IndiGenome card, recently unveiled by the government, will help you find the answers if your genetic information is captured in a database that India's umbrella research organisation - the Council of Scientific and Industrial Research (CSIR) - is building. Once your genome is sequenced from your blood sample and added to this database, the card can be used to read the information embedded in your genes, just as your debit card is used to generate a financial transaction statement from your bank's database.

Well, the card is not the key. Genome sequencing - or mapping the pattern of the basic building block of every living cell - is. A genome contains all of a living being's genetic material (simply put, the genome is divided into chromosomes, chromosomes contain genes, and genes are made of DNA). Each genome has approximately 3.2 billion DNA base pairs, and the way they are arranged, or variations and mutations in their pattern, can provide clues about the individual's health or ill health, inherited or acquired. Already, 1,008 individuals, chosen to represent India's social, ethnic and geographic diversity, have been issued such cards. Over 280 doctors in 70 institutions have been trained to make sense of such data. A CSIR institute, the Institute of Genomics and Integrative Biology (IGIB) - which is spearheading the Genomics for Public Health in India, also called IndiGen project - is planning to enrol 20,000 Indians for whole genome sequencing in the next couple of years to build a larger database. The data will be important for building the knowhow, baseline data and indigenous capacity in the emerging

area of precision medicine. IndiGen will have applications in a number of areas, including faster and more efficient diagnosis of rare diseases. The other benefits are cost-effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions.

In fact, IGIB leads two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and other Omics tools for Enabling Medical Decision (GOMED), led by Dr Mohammed Faruq, to see that the genome database and genetic screening leads to development of cost effective diagnostic tools and tests that are licensed out to private and public medical institutions.

The world over, fall in cost for genome sequencing (a reason for which is increase in computing power) is leading to path-breaking applications spanning the entire spectrum of healthcare - diagnosis to treatment and drug development to prevention and wellness - and unrelated fields such as agriculture, animal productivity, environment, sports and many more. Consider this: CSIR took six months to sequence the genomes of 1,008 Indians. Seventeen years ago, a global initiative led by the US National Academy of Sciences, had taken 12 years, and spent $3 billion, to complete the sequencing of the first human genome. Today, sequencing a person's genome does not cost more than $1,000. In fact, Sam Santosh, Chairman of MedGenome Labs, a private venture, says he can sequence a complete human genome in his Bengaluru lab for $500-600.

The Industry

The catalyst for the IndiGen project was advent of Next Generation Sequencing (NGS) in the last decade or so. (NGS helps an entire human genome to be sequenced in a day. The previous Sanger sequencing technology used to take over a decade.) The technology is being used by both IGIB and MedGenome for high-throughput sequencing, i.e. sequencing hundreds of thousands of genes in one go.

IndiGen is a good start but there are countries that are much ahead. Genomics England, a public-private partnership between the UK government and world's biggest NGS sequencing machine maker, Illumina, has completed sequencing of 1,00,000 genomes of British citizens comprising a mix of cancer patients, rare disorder patients and healthy people. A new agreement for sequencing of 3,00,000 genomes, with an option to increase it to 5,00,000 over the next five years, was signed by the two partners on January 13. "Countries such as Estonia and Iceland are attempting to sequence every single citizen and link the data with their health schemes. The US has decided to do it for every single rare disorder patient," says Praveen Gupta, Managing Director & Founder, Premas Life Sciences - the authorised partner of US-based Illumina in India.

"The global high-throughput genomics industry will be in the range of $10-12 billion. With an estimated 25-30 per cent annual growth, it is expected to become a $25-30 billion market in the next three-four years," he says. Premas sells tools (reagents, platforms, software, training) to labs that do genetic testing in India. With 90 per cent market share, it drives NGS technology in India, too. "The high-throughput genomics market in India, including reagents, instruments and services, will be about Rs 500 crore. Approximately 50,000 samples must be reaching India's clinical (service) market on an annual basis," says Gupta.

Dr Sridhar Sivasubbu and Dr Vinod Scaria, IGIB scientists at the forefront of the IndiGen programme, say genome sequencing is just one piece of the initiative. IGIB has two other programmes - Genomics for Understanding Rare Diseases India Alliance (GUaRDIAN) Network and Genomics and Other Omics Tools for Enabling Medical Decision (GOMED) - to ensure their genome database and genetic screening lead to development of cost-effective diagnostic tools and tests that can be licensed out to private and public healthcare institutions. "GUaRDIAN focuses on rare diseases. Given that we are a billion-plus people, even the rarest of the rare diseases is found in a few lakh people. So, this programme caters to 70 million people living with some genetic disease. We find technological solutions for these 7,000-odd diseases and partner with a network of 280 clinicians across 70-odd institutions to offer our solutions," says Sivasubbu.

"Patients and their families connect with us through the GUaRDIAN network. We sequence their genes to find the mutation, and once we find it, we go back to their communities with a cost-effective test to identify that mutation. You just have to look for that single mutation in others, and that's cost-effective," says Scaria. Instead of whole genome sequencing, which costs between Rs 50,000 and Rs 1,00,000, a single assay developed by IGIB through these programmes costs Rs 2,000. The team led by Sivasubbu and Scaria has developed 180 tests for 180 genes and transferred the technology to private diagnostic labs. The institute itself has catered to about 10,000 patients and carried about 25,000 tests in the last two years. "We have entered into partnerships with about a dozen companies. The format of the collaboration depends on the business models they follow," says Sivasubbu.

Premas Life Sciences

The authorised partner of US-based Illumina in India provides tools (reagents, platforms, software, training and troubleshooting) to labs engaged in genetic testing in India. With 90 per cent market share, it drives the New Generation Sequencing technology in India

It works in areas other than healthcare, too. For example, Tagtaste, an online platform for food professionals, uses the company's services to understand the genomics of taste. It has customers and partners such as Pepsico, Coca Cola, Nestle and ITC

Dr Lal PathLabs

The company has licensed diagnostic tests for 27 conditions from Institute of Genomics and Integrative Biology (IGIB)

Has a portfolio of more than 200 different types of tests

It is active in fields like rep- roductive health, cancer di- agnosis, pharmacogenomics

Medgenome Labs

The Bengaluru-based player considers itself as the private sector avatar of IGIB. It offers not just genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing 10,000 whole genomes, of which about 8,000 are from India

MedGenomes research associates recently sequenced and analysed the genome of the Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Lifecell International

The company is in the genetic testing space. It has tied up with IGIB and offers tests ranging from basic screening (prenatal screening, newborn screening, etc) to high-end ones based on NGS. It tests more than 50,000 patient samples every month

Mahajan Imaging

The company has set up a new R&D wing to focus on cutting-edge scientific and clinical research and help radiology and genomics companies develop world-class clinically relevant products. The idea is to integrate imaging and genomic data

Trivitron Healthcare

The Chennai-based chain wants to develop tools using genomic data that can work on conventional platforms. It is talking to IGIB and trying to get its knowhow for manufacture of products for sale to pathology labs

The Private Hand

Dr Lal PathLabs, a pathology lab chain with big plans in the genetic testing space, has an entire department for such tests. "We offer tests of all levels - Karyotyping, which looks at the macro level, Microarrays, which offer intermediate resolution, and NGS, used to elucidate the DNA sequence at the micro level. The fields we are active in include prenatal reproductive health, cancer diagnosis and pharmacogenomics (study of how genes affect a person's response to drugs). We have more than 200 tests and conduct around 300 tests per day," says Dr Vandana Lal, Executive Director, Dr Lal PathLabs. The company has licensed tests for 27 conditions from IGIB. "The imported technology is expensive. The idea to partner with CSIR labs is to bring these cutting-edge technologies to Indian masses at a reasonable cost," says Dr Lal.

Lifecell International is another player in the genetic testing space that has tied up IGIB. "We offer tests ranging from basic screening (prenatal screening, newborn screening, etc.) to high-end ones based on NGS. We test more than 50,000 samples a month. PCR-based tests range from Rs 2,000-5,000 whereas tests based on NGS and those involving sequencing of large parts of the genome can cost upwards of Rs 20,000," says Ishaan Khanna, CEO, Biobank & Diagnostics, Lifecell. He believes the IndiGen database will help in development of better analysis and interpretation tools. "Our focus is on developing rapid genome testing for children in NICU (Neonatal ICU) and similar other scenarios where doctors need clear actionable results in the shortest possible time. IndiGen provides the right mix of Indian genome database," he says.

But not every partnership is for access to cost-effective tests. Mahajan Imaging, a medical imaging chain, has set up a Centre for Advanced Research in Imaging, Neuroscience and Genomics to focus on research and helping radiology and genomics companies develop clinically relevant products. The idea is to integrate imaging and genomic data. "We started the project six months ago and are among the first imaging companies to get into genomics. In the next three-five years, it will be possible for an AI algorithm to look at the radiology image and give genomic readings on it," says Vidur Mahajan, Associate Director, Mahajan Imaging.

Chennai-based Trivitron Healthcare sees in IndiGene data an opportunity to develop multiple testing platforms. It wants to develop tools using genomic data that can work on conventional platforms. "There are almost 1,00,000 pathology labs in India. Hardly 500-1,000 must be doing genetic testing. Companies like ours are talking to IGIB and trying to get the knowhow to manufacture products for a larger population," says Jameel Ahmad Khan, Head, R&D, Trivitron. "IGIB will develop the knowhow, provide proof of concept, and we will convert it into a product which pathology labs without highly trained manpower can also run," he says.

Bengaluru-based Medgenome Labs considers itself a private sector avatar of IGIB, perhaps even a couple of years ahead in research and development. The company not only does genetic tests but also carries out research. It has collaborated with Singapore's Nanyang Technological University to sequence 1,00,000 whole genomes from Asia. The Genome Asia project has already completed sequencing of 10,000 whole genomes, of which about 8,000 are from India. On December 4, international journal Nature published the initial findings from the project - genetic variation, population structure, disease associations, etc., from a whole-genome sequencing reference dataset of 1,739 individuals of 219 population groups and 64 countries across Asia. "We sequence a person's genes and other relevant parts of the genome for specific mutations to understand what is causing the disease and specific drugs and dosage the person will respond to. We also help pharmaceutical companies understand genomes and discover new drug targets and biomarkers," says Sam Santosh, Chairman, MedGenome. With about 120 sales people, the company claims it is generating samples from around 10,000 clinicians across the country. "We were the first to enter the market. In that sense, we created the market, and would be having 60-65 per cent market share. The sequencing market must be in the range of $70-75 million," says Santosh. The company expects its diagnostic business to touch $100 million in four years. Interestingly, MedGenome's research associates recently sequenced and analysed the genome of Cobra snake. The findings, published in Nature, suggest the possibility of developing a new method of producing anti-venom completely in the lab.

Other Sectors

Illumina's India partner Premas Life Sciences is not selling its next generation sequencers only to healthcare firms. Gupta says it has more than 200 installations in India alone. "Anything which is living has a DNA nucleic acid and can be sequenced. We have a mass research market and practically every institute has the sequencer. Somebody will be working on cow, somebody on rice, a third institute on some bacteria," says Gupta.

IGIB researchers Dr Sridhar Sivasubbu and Dr Vinod Scaria vouch for this. The institute is getting requests, including partnership offers, from non-medical players. Tagtaste, an online platform for food professionals, wants to understand the genomics of taste. "In a lighter vein, you could say that the efficiency of a professional wine taster depends on his genes," says Scaria. With customers and partners such as Pepsico, Coca Cola, Nestle and ITC, and a clientele that includes chefs of global hotel chains, taste is serious business. "The point is, if a person is paying Rs 3,000 for a curry or Rs 5,000 for a soup, you better get the taste right," says Scaria. IGIB also works with Adam's Genetics for R&D and product development in the area of fitness. "One of the companies works in the cricket industry. Each player can be genetically tested for performance and food intake because not all muscles have the same size and some people gain weight, some don't gain muscle mass, while some may be more prone to injury. Genetic tests can find out who is prone to injury, or whether weightlifting is the right exercise for a player or not," says Sivasubbu.

The Future

Indians are 17 per cent of the world's population. But only 0.2 per cent genomic data is from the Indian population. This is one area where India can lead. We have so many diseases, and if we can provide the genetic design, the world can develop diagnostics and therapies. "We can create ideas. We didn't invent computers but we created the IT industry. In the same way, we didn't invent genomic sequences but tomorrow we can create a genome informatics economy," says Premas' Gupta.

There are other possibilities, too. "A lot of pundits say that in the next five-six years, 15 per cent of the world's population will be whole genome sequenced. If I require 100 GB data for a genome sequence, for 1.5 billion people, 25-30 exabytes of data will be needed. The entire data content on YouTube, globally, is 0.8 exabytes. Imagine the kind of data generation and analytics possibilities we are talking about," says Gupta. "We need people to analyse this data. If we can take the lead and train our manpower, we can move the world, we can create a new industry which can lead for the next 20 years just the way the IT industry did," he adds. Incidentally, Gupta claims that TCS has already bought Illumina's sequencing platform. So has WIPRO. It seems IT companies are already sensing an opportunity.

Sivasubbu says it took India 10 years to scale up from sequencing one genome to 1,000 genomes. "In the next decade, it may be a million."

@joecmathew

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The Gene Business - Business Today

The fountain of youth may be lurking in the DNA of a remarkable fish which manages to survive out of water for several lifetimes.

African turquoise killifish which are native to Zimbabwe and Mozambique, inhabit shallow puddles that are prone to drying out, leaving the fish stranded for large parts of the year.

But to beat the problem, killifish embryos enter a state of suspended animation called diapause where they essentially stop the clock until the rain returns and they resume life as if nothing has happened.

Now scientists at Stanford University and theStowers Institute for Medical Researchhave worked out how they do it and believe it could help humans prevent ageing, or even hibernate, which might be necessary on lengthy journeys into space.

A study of killifish DNA showed that during diapause, genes which trigger the rapid turnover of cells dial down, as do those involved in metabolism, while those involved in muscle maintenance become more active.

Scientists are now keen to find out if activating the same genes in humans could prevent ageing and disease in later life.

The killifish lives in transient ponds that are only present during the rainy season and entirely desiccate during the dry season, the authors wrote in the journal Science.

To survive the long drought and enable perpetuation of the species, African killifish embryos enter diapause.

Although features of diapause have been described in killifish species the mechanisms by which diapause protects organisms remain unknown.

The time spent in diapause does not come with observed tradeoffs for future life, and diapause confers protective mechanisms to complex organs against damage caused by the passage of time.

Killifish survive for around four to six months so can complete their lifecycle and spawn before their puddle drys out.

Commenting on the research, Marc Van Gilst, of the Department of Anesthesiology and Pain Medicine, University of Washington, Seattle, said: In the simplest sense, aging is considered the inevitable wear and tear brought on by the passage of time.

The basic idea is that the more time passes, the more an animal ages and the more it progresses toward its ultimate demise.

This simplistic perspective is somewhat fatalistic and defines time as the ultimate enemy of youth.

However, it has been established in many animals that aging is also heavily influenced by genetic and physiological programs, such that aging may not necessarily be an inevitable consequence.

Dr Alejandro Sanchez Alvarado, Scientific Director, Stowers Institute for Medical Research, added: "Our work provides us with an opportunity to make inroads into understanding this fascinating natural manifestation of suspended animation in the vertebrate killifish."

See the article here:
How a fish out of water could help humans find the fountain of youth - Telegraph.co.uk