StemCell Therapy

Clearly, a lot can happen in a decadebut innovation has to start somewhere. Based on whats breaking through now, here are some trends that have the potential to shape the 2020s.

The 2010s saw18 statesapprove the use of marijuana for medical purposes, bringingthe total to 33 states. In the 2020s, research into the potential medicinal uses of psychedelics could increase dramatically.

In another recent example, one researcher found that MDMA, or ecstasy, can make thecharacteristically shy octopus act friendlier. Though cephalopod brains are more similar to snails than to humans, scientists gleaned insights about how neurons and neurotransmitters behave on the drug that could inform future studies in humans. Other researchers doing experiments with mice hope MDMA ability to manipulate oxytocin could benefit people suffering PTSD.

At the University of California, Berkeley, scientists have developedcell phone appsthat can spot pathogens in biologic samples. The World Health Organization hasincreased fundingto initiatives working to scale up vaccine production in disease-afflicted countries.Artificial intelligenceis also starting to make a big splash in the infectious disease arena as computer scientists deploy the technology to predictand hopefully temperoutbreaks that originate in animals.

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Trends that will shape the 2020s: Psychedelics as medicine, diagnostic cell phone apps and AI prediction of disease outbreaks - Genetic Literacy...

Texas A&M veterinary student Marshal Covin.

Texas A&M College of Veterinary Medicine & Biomedical Sciences

Marshal Covin, a second-year veterinary student at theTexas A&M College of Veterinary Medicine & Biomedical Sciences (CVM), never expected a simple howdy to lead to countless opportunities for advancing his veterinary career.

But after introducing himself and striking up a conversation with an unfamiliar staff member who turned out to be veterinary technician Chanel Reinertsen, Covin was encouraged to apply for jobs at the CVM and was soon employed at the Gastrointestinal Laboratory (GI Lab)as a junior biomedical sciences major.

For about a year or so, I was a student worker there helping with service, Covin said. Veterinary clinics from around the world send fecal, serum, and other samples to the GI Lab, and Id help them process it, put it where its supposed to be, answer phones, and things like that.

Soon,Dr. Jorg Steiner, GI Lab director and distinguished professor, and Dr. Mark Morris. chair in small animal gastroenterology and nutrition, noticed Covins potential and requested his help on a research project. They began to develop a real-time polymerase chain reaction test to detect an especially elusive liver fluke called O. viverrini, a zoonotic parasite that can cause serious illness in animals and people.

We extracted DNA from adult specimens ofO. viverriniand chose a primer to target the gene we wanted, but we were unsuccessful in getting sufficient amplification of the DNA in our test, Covin said. Thus, more work is needed on the project.

After that project was put on hold, Covin was moved to the research sector of the GI Lab and given his next project, for which he used analytical validation to prove that two new protein tests were as effective as the older version that took a far greater amount of time to run. These new tests detect C-reactive protein in dogs, a common marker for inflammation from various causes, including pancreatitis, parvovirus infection and surgical trauma.

These projects may help improve patient care for any clinic or lab that is looking to use either of these two tests to measure canine C-reactive protein, Covin said. I got two abstracts out of it, which is really awesome. I was fortunate enough to go to Seattle and present the first one at the Annual Forum of the American College of Veterinary Internal Medicine, and then Dr. Jonathan Lidbury presented the second at the European College of Veterinary Internal Medicine Congress in Rotterdam, the Netherlands, in Europe.

Covins current project with Steiner involves studying blood serum to develop a new medication for Wilsons Disease, a genetic disorder in people and dogs.

Its a copper-storage disease wherein people cant excrete copper, so their liver ends up failing, Covin said. The current medication for it takes a year to work. This new one that were trying to work on takes potentially a week.

Though Covin and Steiner have only worked on a few projects together, Covin said it has been fantastic having the opportunity to work in the GI Lab with CVM faculty members who enjoy mentoring students.

I think were really fortunate here, because we have such wonderful faculty who are willing to take us under their wings, he said. Dr. Steiner has helped me in so many ways.

Covin even had the opportunity to travel to Germany this summer with Steiner and two other CVM veterinary students. There, they studied pigs in an effort to develop a new pancreatitis treatment for humans.

Besides the world-class mentorship I get from Dr. Steiner and Dr. Lidbury, I also get a ton of help from other GI Lab staff, Covin said. Our technicians, Ph.D. students, and supervisors are always eager to lend a helping hand, which is one of the things I love the most about the GI Lab.

We definitely have a team-player mentality, he said. I can confidently say that none of my research would have been possible without their support and guidance.

With three years left at the CVM, Covin has plenty of time to work on many more research projects with GI Lab faculty and staff members. As for now, he finds his past and present research projects have been an interesting part of his time at the CVM.

Theyre all really cool, he said. I cant even pick a favorite. Each one has its own unique challenges.

Even though Covin doesnt plan to go into research after graduation, his experiences in the GI Lab will be beneficial when he is working as a mixed-practice veterinarian.

As a general practitioner, having a background in research is really helpful because you can help enroll clients in clinical trials and keep up to date with the latest and greatest innovations, Covin said. But, at some point in the future, I might absolutely go back to academics or research.

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Learning In The Lab - Texas A&M University

In the second episode of Medicine made for you, a series from The Anthill podcast that takes a deep dive into the future of healthcare, were looking at the food we eat and how dietary advice could soon get a lot more personalised.

We start with muffins. Our producer Gemma Ware tells the story of a two-week nutritional study run by Kings College London that she took part in with her identical twin sister, aimed at trying to better understand which factors influence how we react to particular foods.

A core part of the study, called PREDICT, involves eating muffins, prepared by the research team with different levels of fat, sugar and fibre, and doing multiple blood tests afterwards to measure the reaction.

Tim Spector, professor of genetic epidemiology at Kings College London, and who is leading the study, explains:

Up to recently, say, the last ten years, weve been thinking that the difference between people and how they respond to food is primarily down to their genes. And this has led some people to have a rather fatalistic view of dieting and health and everything else and say, well, Id blame my parents.

Spector explains that through the researchers ongoing analysis of more than 2 million data points from the PREDICT study which includes data from sets of identical twins who share 100% of the same DNA scientists are now able to separate how many of the differences between peoples bodily responses to certain foods are down to their genes. And everybody reacts differently, even identical twins.

When it comes to a persons reaction to sugar, for example, the researchers found that about 30% could be explained by genes, but for a persons reaction to fat it was only around 5%.

The more we find out about the human body the more complex it is. And its definitely not all explained by genes and its definitely not all explained by microbes. And were finding other things we didnt think were important do have a role.

Now the results are available to participants in a new app, which gives personalised recommendations on how healthy certain foods or meals are for your body, based on the study results. We put it to the test.

Part of the analysis is based on the diversity of a persons gut microbiome, and the influence this has on metabolising the food they eat. To find out more about the importance of these gut microbes we visited the (pretty smelly) lab of Glenn Gibson, professor of food microbiology at the University of Reading, to see the models of the gut his team have created.

Gibson says hes not convinced that well ever get to a point where its possible to personalise dietary advice based on a persons individual microbiome:

Because it would suggest that every single person has a rather different diet to propel their gut microbiota in terms of their own health. And I dont think that is necessary. We kind of know which microbes in the gut are positive for health and which ones are negative. And so I dont think that individually, there are going to be massive differences in those bugs.

Gibson explains that he thinks the factors that influence the health of the gut microbiome are more environmental than genetic.

When it comes to genes, theres still a lot researchers dont know for certain about the way our genes and diets interact, and this means that personalising dietary advice based on someones DNA is so far, quite limited.

But even if people do have more personalised dietary advice available at their fingertips in the future, will they use it? Julie Lovegrove, Hugh Sinclair chair in human nutrition at the University of Reading, explains the results of a study, called Food4Me, that looked at how people responded to different types of personalised advice. Some people in the study received advice based simply on their diet, some based on their phenotype risk, such as whether they have risk of high cholestoral or diabetes, and some based on their genes.

While Lovegrove says that the overall personalisation did have a beneficial effect on how much red meat or saturated fats people ate the type of personalisation didnt have much impact.

I think we have to understand with our colleagues in psychology, for example, what motivates people to change. And I think we are all motivated by different things. And I think we also must frame it in a way that people can not only take on board, but understand the importance of that.

In our third episode of Medicine made for you, out on March 3, well look at how choices about treatment could become more personalised, including the growth of social prescribing. You can listen here to part 1, focusing on genes, clinical trials and precision medicine.

The music in this episode is Is That You or Are You You? by Chris Zabriskie and Hallon by Christian Bjoerklund. Medicine made for you is produced and reported by Holly Squire and Gemma Ware, and hosted by Annabel Bligh for The Anthill podcast. A big thanks to City, University of London, for letting us use their studios.

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How personal will nutritional advice become in the future? Medicine made for you part 2 - The Conversation UK

Scientists around the world are racing to understandCOVID-19, the novel coronavirus that has infected more than 82,000 people worldwide and killed 2,817 people as of Thursday. While there are many known viruses in the same class of coronavirus as COVID-19, some of its peculiarities including its infectivity are perplexing researchers. Now, a recent research paper viewableon the Chinese research siteChinaxiv.organd previously reported on by theSouth China Morning Postnotes that the new coronavirus has an "HIV-like mutation" that gives it novel properties.

"Because of this mutation, the packing mechanism of the 2019-nCoV may be changed to being more similar to those of MHV, HIV, Ebola virus (EBoV) and some avian influenza viruses," the English abstract of the paper states.

Though the paper is yet to be peer-reviewed, the scientists involved hail from Nankai Unviersity in Tianjin, one of the top universities in the world's most populousnation.

The paper adds to the crucial body of research around COVID-19, which still includes more unknowns than knowns. Currently,scientists still do notknow COVID-19's origin, though suspect it is zoonotic, meaning it likely started in an animal before spreading to humans. As the U.S. Centers for Disease Control and Prevention (CDC)note on theirwebsite, COVID-19 is an "emerging disease," and much of what we do know is "based on what is known about similar coronaviruses." More recently,news surfaced today that there are new cases in Germany and California inwhich the patient had no known risk factors.

TheNankai University researchers suggestthat COVID-19's ability to bind tocells is as much as1,000 times greaterthan SARS' ability. Like COVID-19, SARSis also a coronavirus. As explained by the South China Morning Post, SARSand the novel coronavirus share about 80 percent of their genetic structure. However, COVID-19 attacksa proteincalled furin the same proteinthat is attacked byEbola andHIV, which are not coronaviruses. A 2014 research paper suggested that the key to finding a cure for Ebola lay in understanding the protein furin.

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According tothe World Health Organization, SARS is more deadly than COVID-19, but the novel coronavirus is more infectious.

This echoes a separate finding from researchers at the University of Washington (UW) School of Medicine who analyzed the virus's spike architecture.

"The spike is the business part as far as viral entry is concerned," David Veesler, senior author of the report and assistant professor of biochemistry at the UW School of Medicine, said in a media statement."It is in charge not only of attachment at the host cell surface, but also of fusing the viral and host cell membranes to allow the infection to start. The spike is also the main target of neutralizing antibodies, so it's very important for vaccine and therapeutic design."

In their analysis, the researchers found "a furin cleavage site at a boundary between two subunits of the spike protein in the newly emerged coronavirus," according to the media release.

Considering what we do know about the novel coronavirus' genetic makeup, researchers are repurposing drugs used to treat other viral infections in various clinical trials to treat COVID-19.

"The general genomic layout and the general replication kinetics and the biology of the MERS, SARS and [SARS-CoV-2] viruses are very similar, so testing drugs which target relatively generic parts of these coronaviruses is a logical step," Vincent Munster, chief of theViral Ecology Unit at the U.S. National Institute of Health, told Nature.

Americans are bracing for a potential outbreak or even pandemic. In the United States, the CDC said it wasn't a matter of if there will be a disruptive outbreak, but when. Markets in the United States dropped precipitously this week over fears of global economic disruption stemming from COVID-19.

Despite the widespread fear over COVID-19,the seasonal fluremains a greater public health threatin the United States.

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Why COVID-19 is more insidious than other coronaviruses - Salon

On stage at the Miss America 2020 pageant, Svati Shah looked into the camera and delivered her important message.

It wasnt merely that heart disease and stroke kill more women than all forms of cancer combined. Or that cardiovascular diseases are largely preventable.

It was telling the television audience of over 3.6 million people there are clear ways to change that ways that go far beyond the usual advice of diet and exercise.

By urging more women to take up careers in science and medicine, she said. By ensuring women are included in medical research. By empowering women to change the fact that women living 20 miles apart can have a 20-year difference in lifespan.

When women come together to demand change, change happens.

Dr. Svati Shah is an associate dean in the Duke University School of Medicine and, Im proud to say, a volunteer for my organization, the American Heart Association. I asked her to speak on our behalf at the Miss America pageant because of the passion and spirit she brings to this fight, and to emphasize that women are helping lead the way.

I hope girls who watched were as inspired by Svati as they were by any of the women on that stage. Whats really inspiring is everything that led Svati to that moment.

Her parents fled India in the early 1970s to escape poverty and disease, and so their children could lead happier, healthier lives. Her dad arrived in the United States with $8 and no job. The grit and dedication she saw from her parents especially her mom has turned her into the person she is today: doctor, scientist, wife, mother and so much more.

***

Her story begins in Ahmedabad, India, where her father was born into a home without running water or electricity. As the oldest child, he upheld the custom of helping raise his five siblings.

Her mother also was an oldest child. She had seven siblings; five died before age 5. Sadly, that was somewhat common. Even more sadly, they died of conditions that couldve been treated with antibiotics and fluid hydration.

In his 20s, her dad plunked his life savings into a plane ticket to London and, thus, to a new, more prosperous life. Upon landing at Heathrow Airport, rules required him to take a tuberculosis test. He tested positive. A false positive. Regardless, he was sent back to India, penniless.

Once he earned enough for another ticket, although this time to New York. During the flight, he stepped out of the bathroom and saw a gun pointed at his head. Hijackers. His emigration was rerouted through Cuba, eventually, safely delivering passengers to their intended destination.

Working as an engineer, he was able to bring over his wife a year later. In another year and a half, they had their first child. Svati.

***

The first home Svati remembers was a very small, very nasty apartment across from Montefiore Medical Center in the Bronx.

Her dad worked days as a civil engineer. Her mom worked nights as a punch-card operator for a bank. In the middle of every night, dad woke up and went to the subway stop to escort mom home.

Between her parents opposite schedules and their challenge of raising another younger daughter, Svati began walking to school alone at an early age. She encountered things no child should see. Like someone getting shot on the subway.

She was 9 when her dad got a job in Richland, Washington, the town where the atomic bomb that was dropped on Nagasaki was built. He became an engineer at the nuclear plant and her mom became a secretary there. The family bought a small house.

Then, when Svati was in seventh grade, her parents divorced. Her dad moved away, leaving her mom to raise two teen girls on $19,000 a year.

Although their community included many Indian families, the stigma of divorce made this family outcasts in that community. Food and staples were sometimes bought with food stamps. The thermostat was kept at 55 to save money.

***

Halfway through her senior year of high school, Svati wondered whether she could get into an elite college.

Problem was, shed missed the application deadline. Except for one: Johns Hopkins University.

All she knew was that it was a good school. She got in and, most importantly, earned enough scholarships to make it affordable.

Once on campus, she made a powerful discovery. Hopkins was the perfect school for someone who aimed to wipe out preventable diseases.

That had become Svatis goal because of the horror stories shed heard just from her family.

In addition to the deaths of her moms siblings decades before, both of her fathers parents had gone blind because of cataracts and one of her uncles died from a fever, leaving behind four young children.

I knew from a very young age that I wanted to be in health care, she said. And I just loved science.

***

Svati trained in biostatistics, coding, epidemiology and clinical research on her way to earning a masters degree at the Johns Hopkins School of Public Health.

The plan was to go into public health. Instead, she opted for medical school. Affordability lured her back toward her mom and sister: the University of Washington.

Her ability to code and work with statistics made her in high demand among researchers. Between her desire to do everything and a work ethic forged by her parents and her own hardscrabble youth, she dove into every project she could.

I wasnt the smartest medical school student, but I worked really, really hard, she said. Taking care of patients was fun. It was a constant academic assault: reading about them, figuring out whats wrong and then trying to solve that puzzle.

She did so well that she landed her top choice for an internal medicine residency. Harvard.

***

While in Boston, she decided to focus on cardiology because of the variety. She could interact with patients, perform procedures in the catheterization lab and do research.

Then cardiologist Pat OGara asked what specific area of cardiology she wanted to study.

Stumped, she said, Dr. OGara, if you were me, what would you do?

Genetic epidemiology, he said.

Genetics was emerging as the future of research. Learning how a persons hardwiring could put them at risk for a disease seemed exciting, especially when paired with heart disease, the deadliest of them all. Plus, improving risk prevention seemed like a straight shot to the family history that lured her into medicine.

Svati had never considered it.

Until now.

That sounds great, she told him.

***

Her next stop was a fellowship at Duke, where she aimed to do clinical research through the schools renowned institute.

Then she learned that Duke recently started a Center for Human Genetics. And that one of its main studies involved seeking the genes that cause early onset heart disease in 1,000 families. She gladly joined that team.

The human genome has 3 billion letters and we were looking at 420, she said. It was like searching for a needle in a haystack.

They found several needles.

Soon after, in April 2003, a consortium of scientists completed the Human Genome Project, which then led to major technology advances.

That rocked my world and exploded it, she said. Now we could measure 500,000 letters across the genome.

Out of 3 billion, thats still a tiny amount: 1/6,000.

Again, Svati and her Duke colleagues picked the right haystack.

We found the first gene that causes heart disease, she said. Its actually not in a gene its on the outside of a gene on chromosome 9p21. Its the most consistent risk factor for heart disease, and its held true decades later.

***

Because she continues to have a variety of interests, the focus of her work has shifted many times. One thing shes dug into is the Undiagnosed Diseases Network, a federally funded program that seeks to solve rare, mysterious conditions that afflict families, and she started a genetics clinic at Duke to take care of patients and their families who have genetic heart disorders.

Meanwhile, Svati started her own family. She married another Duke cardiologist, Patrick Hranitzky, and had two sons.

Four years ago, when their oldest son, Kieran, was 5, he was hospitalized because of a severe gastrointestinal bleed. Months later, doctors found the source. One of those rare diseases.

Its called Factor VII deficiency. Its caused by a lack of a protein needed for blood to clot. Screening showed that her younger son, Kellan, has it, too.

We think of different conditions as rare diseases, but in aggregate, they actually affect a lot of people about 1 in 40, she said.

Among the ways to fight it? Genomics.

Last summer, Svati was named director of the Duke Precision Genomics Collaboratory and associate dean of genomics.

Because theres a convergence of data science, electronic health records, population health and a deeper understanding of the genome, we can actually screen people for diseases and identify who is at risk, she said. Theres a long way to go, but this is an exciting time.

***

Its also an exciting time for women in science.

Thats why the American Heart Association partnered with the Miss America pageant.

Thats why Svati stood on stage delivering our message.

Thats why shes sharing her story here.

Many of us were told we cant do everything. We can, she said. Were capable of being great mothers, great scientists, great doctors. You can do it all.

I want women to hear that message, but I also want all people considering this career to know: You can do it all.

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Her parents taught her grit, caring for others. She's using those traits to fight heart disease. - Thrive Global

Early proponents of genome sequencing made misleading predictions about its potential in medicine.

An emergency room physician, initially unable to diagnose a disoriented patient, finds on the patient a wallet-sized card providing access to his genome, or all his DNA. The physician quickly searches the genome, diagnoses the problem and sends the patient off for a gene-therapy cure. Thats what a Pulitzer prize-winning journalist imagined 2020 would look like when she reported on the Human Genome Project back in 1996.

The Human Genome Project was an international scientific collaboration that successfully mapped, sequenced and made publicly available the genetic content of human chromosomes or all human DNA. Taking place between 1990 and 2003, the project caused many to speculate about the future of medicine. In 1996, Walter Gilbert, a Nobel laureate, said, The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. In 2000, Francis Collins, then head of the HGP at the National Institutes of Health, predicted, Perhaps in another 15 or 20 years, you will see a complete transformation in therapeutic medicine. The same year, President Bill Clinton stated the Human Genome Project would revolutionize the diagnosis, prevention, and treatment of most, if not all, human diseases.

It is now 2020 and no one carries a genome card. Physicians typically do not examine your DNA to diagnose or treat you. Why not? As I explain in a recent article in the Journal of Neurogenetics, the causes of common debilitating diseases are complex, so they typically are not amenable to simple genetic treatments, despite the hope and hype to the contrary.

The idea that a single gene can cause common diseases has been around for several decades. In the late 1980s and early 1990s, high-profile scientific journals, including Nature and JAMA, announced single-gene causation of bipolar disorder, schizophrenia, and alcoholism, among other conditions and behaviors. These articles drew massive attention in the popular media, but were soon retracted or failed attempts at replication. These reevaluations completely undermined the initial conclusions, which often had relied on misguided statistical tests. Biologists were generally aware of these developments, though the follow-up studies received little attention in popular media.

There are indeed individual gene mutations that cause devastating disorders, such as Huntingtons disease. But most common debilitating diseases are not caused by a mutation of a single gene. This is because people who have a debilitating genetic disease, on average, do not survive long enough to have numerous healthy children. In other words, there is strong evolutionary pressure against such mutations. Huntingtons disease is an exception that endures because it typically does not produce symptoms until a patient is beyond their reproductive years. Although new mutations for many other disabling conditions occur by chance, they dont become frequent in the population.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect. They interact with one another and with environmental factors, modifying the production of proteins from genes. The many kinds of microbes that live within the human body can play a role, too.

A silver bullet genetic fix is still elusive for most diseases.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy. Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect. Gene therapy for rare single-gene disorders is likely to succeed, but must be tailored to each individual condition. The enormous cost and the relatively small number of patients who can be helped by such a treatment may create insurmountable financial barriers in these cases. For many diseases, gene therapy may never be useful.

The Human Genome Project has had an enormous impact on almost every field of biological research, by spurring technical advances that facilitate fast, precise and relatively inexpensive sequencing and manipulation of DNA. But these advances in research methods have not led to dramatic improvements in treatment of common debilitating diseases.

Although you cannot bring your genome card to your next doctors appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease. A more accurate understanding of disease causation may insulate patients against unrealistic stories and false promises.

Written by Ari Berkowitz, Presidential Professor of Biology; Director, Cellular & Behavioral Neurobiology Graduate Program, at the University of Oklahoma.

Originally published on The Conversation.

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Sequencing the Human Genome Was Supposed to Revolutionize Treatment of Disease Heres Why It Failed - SciTechDaily

Its hard enough for any cancer patient to get into clinical trials. Its even harder for a patient with a rare cancer like Todd Mercer.

Mercer, a 52-year-old defense industry professional, lives in Michigan with his wife and their two teenagers. At age 50, Mercer got a colonoscopy, as is recommended for people his age, and received a clean bill of health. Six weeks later, his appendix burst.

The diagnosis, which came in December 2017, was cancer of the appendix. It was the tumor that had ruptured his appendix just beyond the reach of the endoscopic exam meaning his cancer was effectively stage 4 at diagnosis. Mercers cancer has since spread to his liver and lungs.

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Mercer first started looking for clinical trials in November 2018, after his cancer recurred for the first time. Since then, hes been turned down from five studies, and is now trying to get into a sixth.

Mercer recently called in to STATs podcast The Readout LOUD to talk about his experience hunting for a trial that will be willing to take him. Its an experience thats frustratingly familiar in a system in which only about one-seventh of adult cancer patients who are eligible to enroll in clinical trials actually sign up.

What kinds of trials are you looking at?

Originally, I looked at clinical trials that were new and exciting and seemed to have some science behind them that might be promising. Lately, though, Ive done some genetic testing thats revealed some genetic information that is leading me towards trials that are designed for the particular blockades or the phenotypes that my genetic testing has introduced. So, now, Im actually being more strategic about my trial hunt.

Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome.

Why is it important to you to enroll in a clinical trial?

For me, its hope. And its a little bit of hope for others as well.

If I look online, if I look at the data, I can see the trajectory of where my disease is headed with standard of care. Ill be lucky to see five years, and I almost wont see 10 years. There are only a few things that I can do directly to affect the outcome thats understanding my diagnosis, understanding my cancer, becoming an advocate for myself, for my treatments, for my care.

I can also look out at whats on the horizon: What other new drugs and new treatments are out there that are helping people? And some of those are in trials, or at least thats my hope. New drugs are being created all the time. There has been promise in other cancers, and so Im looking for that promise in my cancer.

Youve tried to get into five clinical trials and were turned away. Tell us some of the reasons why you were unable to participate in those studies.

For me, the tumor origination in my appendix was my number one obstacle. A lot of trials are designed to enroll only people whose cancer originated in a particular organ. Thats because drug makers are often seeking FDA approval only for cancer with that particular site of origin. And so trials are very careful about which patients they let into the trial because it wont do them any good to collect data on someone with an orphan disease like mine. Not all trials are prohibitive of appendiceal cancer, but many of them are.

Number two for me and so this probably affects more people is something called measurable disease. When you have measurable disease, that means your cancer has formed in such a way that doctors can do a particular measurement. For example, a radiologist can do a measurement to say how large your cancer is to begin with and then how much the treatment affects it in terms of percentage. Is it growing by 10%? Is it shrinking by 20% or 30%? If you dont have measurable disease, many trials wont take you because then they cant get those data.

But theres another factor called evaluable disease, which means the cancer may not be technically measurable but it can still be evaluated. Some clinical trials will use that characteristic. And so I have to find an evaluable trial because, so far, my cancer hasnt been measurable. Now, it could develop that way, but for now, I have to look at other things.

And then Id say the third biggest obstacle for me is exposure. If youve already been exposed to a drug thats in the trial, many trials will exclude you from being in that study. They want virgin candidates who have never been exposed to those particular drugs before, so they know that its the way the drug is administered in the study thats affecting the outcome.

Which kinds of drugs have you been exposed to so far?

Because of my particular situation with an orphan disease, my oncologist has been open to trying some drugs off-label, meaning well do a trial of one for just me. Hell request the drugs, and then we will design a trial that mimics a trial that might be out there at an institution. So he has a pretty good idea of its safety profile and that the drugs arent going to interact inappropriately.

I tried an immunotherapy drug in that situation. And then once I did that, it didnt work. That now prevents me from most trials that have that particular drug in it. I wanted to try it because I wanted to try immunotherapy. Thats a big hope out there for a lot of cancer patients, that can not only bring you into remission, but possibly a cure. So I wanted to expose myself to that, but the tradeoff is that I cant apply to some other trials.

This is not a unique situation in terms of patients getting access to clinical trials. What are you hearing from fellow patients about why theyre getting rejected and how they feel about it?

I havent run into this, butsome people get turned down as they get sicker and sicker ,and their blood work comes back with higher enzymes or is deemed out of tolerance. So, theyre not allowed into the trials as theyre too sick. So we try to advocate to people with cancer: Dont wait until the very end to try trials. Try them while youre still healthy enough to test the medicine, when theyll take you.

People can also be shut out of trials even they meet a trials inclusion criteria. Cost is a big obstacle. The trial will usually pay for the drugs, but a lot of the time it wont pay for the travel to get there, or the doctor exams and the radiology exams, and things like that. So if you dont have good insurance, those costs would become out-of-pocket costs.

Location is another obstacle. Im lucky Im healthy enough to travel right now, so I can get to a trial anywhere. But a lot of people arent either financially or health-wise able to travel to some of these trial locations.

There can, of course, be sound medical and scientific reasons why certain patients arent allowed to enroll in a trial; the goal of scientific research, after all, is to evaluate an experimental treatment as rigorously as possible. But at the same time, theres a growing line of thought that certain exclusion criteria are overly restrictive, especially when so many clinical trials go unfilled. From your vantage point as a patient, how do you think these concerns should be balanced?

Things are restrictive. I mean, cost, location, the exclusion criteria. I try to look at it a little bit differently.

There are a lot of trials out there and a lot of patients. But the trials dont necessarily always publish what their target is. What is the science behind the trial? Are they attacking a particular mutation, a typical blockade, a phenotype? What science directed them to try that combination of drugs or develop that new drug? What are they trying to determine? That needs to be a required piece of information about trials.

And then correspondingly, the patients and the doctors need to be educated on the value of genetic testing.

No patient should ever be diagnosed with cancer without getting genetic testing. That way, you learn what the particular characteristics of your cancer, of your tumor are, what mutations you have, what your blockades are? And if you have that information about your cancer, and the trial is making that information available about what theyre targeting, then youre going to be more desirous of getting into that trial.

So itll incentivize the patients and the doctors to seek out those trials. And then if those trials know that there is a population of patients out there with those particular characteristics that theyre looking for, then theyre incentivized to reach out to those doctors and those patients to find them, to make those matches. Youve got to match the two.

And really, there just needs to be a platform that matches the patients to the trials, and the trials to the patients. Right now, there are for-profit companies out there working on this. Its a large endeavor to gather patient information. Theres all kinds of privacy ramifications. But the problem is theyre selling that information to institutions. So the institution has to buy the information to understand the patient population, the trial population. It becomes problematic very quickly for that information to get into the hands of the doctor, into the hands of the patients, or the hands of the trials where those patients are. Its not being done right now.

Youre now trying to get into a sixth trial. Tell us where things stand there.

So far, its encouraging. It has been delayed, though.

My genetic mapping indicates that there are two drugs that are my highest blockades. And this particular trial has those two drugs in it.

Dont wait until the very end to try trials.

The problem is its a first-in-humans Phase 1 trial. Theyre doing a dose escalation meaning they start by enrolling three people and start them out at a minimal dose. And then when those three people dont have any adverse reactions, then they incorporate three more people and they increase the dose. And then if they dont have any adverse reactions, then three more and then three more until they find out what the maximal tolerating dose is.

The way they they recruit for it, they dont really open slots until theyre ready for the next three people. So Ive located the trial. It happens to be 30 minutes from where I live. So its very fortuitous.

I attended the ASCO-GI conference in San Francisco last month. I just so happened to be flying back from San Francisco to Michigan, and I sat down next to the trial director for the trial that I wanted to get into. So I was able to strike up a conversation and find out where it was with his particular institution, if there were openings or not. And the problem is: no slots have been opened because theyre still waiting for the dose escalation process to work its way out.

I was progressing on my previous treatment, so I was getting sicker and couldnt wait for the slot to open. Im now recycling the previous treatment that I was on last year to see if it will have some effectiveness, just to get me through until potentially a slot opens up. And then I will go through a 28-day detox period where they want no chemo or medicines in your system so that when you do get to the trial, they can better gauge the results. The idea is to show its not residue medicine in my system, its the actual trial drugs, that are making an effect.

Please keep us updated when you get word on that trial. Were rooting for you.

I absolutely will.

This is a lightly edited transcript from a recent episode of STATs biotech podcast, The Readout LOUD. Like it? Consider subscribing to hear every episode.

View post:
Rejected from five clinical trials, a cancer patient waits for one to say yes - STAT

MedicalResearch.com Interview with:

Lajos Pusztai, M.D, D.Phil.Professor of MedicineDirector, Breast Cancer Translational ResearchCo-Director, Yale Cancer Center Genetics and Genomics ProgramYale Cancer CenterYale School of MedicineNew Haven, CT 05620

MedicalResearch.com: What is the background for this study?

Response: We analyzed breast cancer tissues obtained before any therapy and the same cancers after 20 weeks of chemotherapy. This setting is ideal to find out what genomic changes have occurred in cancers that survived therapy. Due to the paucity of such specimens few other studies exist in this space.

MedicalResearch.com: What are the main findings?

Response: All patients received very similar chemotherapy but we found no evidence that a single gene or mutation mediate response to therapy.

Each cancer that survived chemo harbored a different combination of mutations. However, mutations were significantly more common in genes that regulated cell proliferation. We also found that at baseline those cancers that showed genomic signs of DNA repair deficiency had high sensitivity to chemotherapy and these cancers rarely survived the chemo (we call this pathologic complete response).

MedicalResearch.com: What should readers take away from your report?

Response: Breast cancers with genomic scars are more sensitive to chemotherapy. Cancers that have survived chemotherapy tend to have more dysregulated proliferation after treatment due to acquired mutations in many different genes compared to pretreatment cancer.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: Studying drug resistance is very challenging because each cancer develops resistance through its own way.

Any disclosures? This study was funded by the Breast Cancer Research Foundation, the Susan Komen Foundation and the HOPE foundation.

Citation:

Analysis of pre- and post-treatment tissues from the SWOG S0800 trial reveals an effect of neoadjuvant chemotherapy on the breast cancer genome

Ryan L.Powles,Vikram B.Wali,XiaotongLi,William E.Barlow,ZeinaNahleh,Alastair MThompson,Andrew K.Godwin,ChristosHatzisandLajosPusztaiClin Cancer ResJanuary 9 2020DOI:10.1158/1078-0432.CCR-19-2405

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The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

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Cancers That Survive Chemotherapy Acquire Resistance Genes in Different Ways - MedicalResearch.com

By Judith Graham

Kaiser Health News

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.

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 earlybefore age 65are 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.

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 engagedI already do all that, and I plan to as long as I can.

What would I do if I learned some negative from a testsit 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 proteinsa 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, 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 yearsfalling, 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.

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.

The rest is here:
Stalked by the fear that dementia is stalking you - Tri County Sentry

Were proud to be Nuclear Free. We want to be Predator Free. But what about GE Free?Is it time to have a national conversation about genetic engineering?

Dr Sean Simpson Source: 1 NEWS

As I sit opposite Dr Sean Simpson in his companys high-tech Chicago HQ, I cant help but notice his T-Shirt.

Firstly, because its bright yellow. Secondly because hes worn it before he tells me he owns three, all in various stages of fading. The message on the front however couldnt be clearer Science Doesnt Care What You Believe.

Simpson is a man on a mission to reduce the worlds carbon footprint a mission that began in New Zealand.

It was a very basic set up when he started his company LanzaTech with the late Dr Richard Forster in an Auckland basement back in 2005.

Our first experiments were done with a rotisserie unit bought from The BBQ Warehouse and two defunct refrigeration units from the local dairy, he laughs.

Both scientists, Simpson and Forster set out to make a clean burning fuel, ethanol from waste products i.e. pollution and rubbish. They succeeded - the company is now valued at over $1 billion.

Its understandable then that when LanzaTech announced in 2014 it was relocating its head office from Auckland to Chicago there was a sense that New Zealand had missed a major opportunity to retain this innovative and world-leading company.

Simpson acknowledges that New Zealand is a fantastic place in which to start a business, but one of the key reasons for their move was our stance on genetic engineering.

LanzaTechs process uses microbes that secrete ethanol when they are fed waste gases but by genetically modifying the bugs, they can produce a range of other chemicals i.e. not just ethanol. Those chemicals can be used to make things we need every day without contributing to our carbon footprint, and you can't scale that technology in New Zealand.

The government's interim climate change committee has pointed to that stance (which predominantly confines GE to the lab), as a possible barrier to lowering our carbon emissions.

GE also has potential applications in pest control remember were aiming to be predator free by 2050. However, for now, the rules arent likely to change.

Professor Peter Dearden, the Director of Genomics Aotearoa from the University of Otago says pest control, agriculture and medicine are key areas where Kiwis could benefit from GE technology but that our regulations have had a chilling effect on research as much of it depends on whether companies can take their technology to market.

The result of which is that were not doing critical work we need to do in the laboratory because the chances of it being used are so small".

Dearden believes our position will only change if the issue is personalised the best approach is for us to look at NZ solutions to NZ problems, things like Kauri dieback, invasive wasps. The key thing is making it about people, if you or I see a personal benefit then were much more likely to see it differently".

Ultimately, he says its about weighing up the risks and benefits so the public can decide.

The Minister for the Environment, David Parker, was advised on the matter late last year by officials. His office confirmed on Friday that he is still considering it as it is not a straightforward issue.

Even though our GE rules were a factor in LanzaTech heading off-shore, Bruce Jarvis of the governments business support agency, Callaghan Innovation, says it wasnt the only reason as for NZ companies to be successful they have to be close to their market.

In the US most petrol is blended with up to 10 per cent ethanol so theres an enormous opportunity for ethanol producers there.

Jarvis says even though it can be a blow to the Kiwi psyche when a company leaves (especially when its received government start-up funding), there isnt enough focus on their legacy and ongoing benefits to NZ.

He says often whats left behind are highly skilled people who start their own companies and share what theyve learned in terms of commercialisation and thats gold for us.

Its part of the cycle, these people are entrepreneurs, they get bored quickly, this is what they love doing, they love building successful tech companies.

Its an ambition Sean Simpson shares, hes determined to come back to New Zealand for good one day to reinvest his time and talent in other tech start-ups.

In the meantime, although the sentiment behind Seans favourite T-shirt will never change, it could be a lot more faded before theres a significant change to our GE rules.

For the full story on Sean Simpsons incredible journey with LanzaTech, watch SUNDAY, on TVNZ1 at 7:30pm.

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Is it time to have a national conversation about genetic engineering? - TVNZ

Every year, the MIT Technology Reviewputs its considerable brainpower into seeing what technological advances will shape the year ahead. Those technologies could range from manufacturing, like 3D Metal Printing in 2018, to the cow-free burger, as chosen by Bill Gates in 2019.

The point here is that all of these technologies genuinely have the potential to change how we live and work. I mean, one of the tech items chosen in 2011 was Facebooks Social Indexing, and we all know how that changed us.

The list this year ranges from privacy to anti-aging treatments that work, and various technologies using quantum mechanics in weird, unique ways.

Heres the full list, complete with links to MIT Technology Reviews blog post so you can learn more:

Phew, thats a lot of things to watch this year. I could really do with some of that anti-aging stuff though, like right now.

What do you think? Do you agree with this list? What other technologies do you believe deserve to be on here? Let us know down below in the comments or carry the discussion over to ourTwitterorFacebook.

Here is the original post:
MIT Technology Reviews 10 breakthrough technologies to watch in 2020 - KnowTechie

When you first meet her, you wont be able to tell that Ipek Kuzu suffers from a rare genetic disease. The three-year-old plays happily on her own for hours, driving her toy cars and cooking in her pretend kitchen. But shes not well. Shes a little wobbly on her feet and doesnt say much, and if nothing is done, she may die by her mid-20s. Ipek has ataxia-telangiectasia, or A-T, a disease caused by an error in her DNA. It causes the loss of brain cells, along with a high risk of infection and cancer.

Its the sort of problem that makes doctors shake their heads. But Ipeks father, Mehmet, and mother, Tugba, hope shell escape that fate. Thanks in part to the persistence of Mehmet, a programmer at Google, in January she became one of the first handful of US patients to receive a hyper-personalized gene medicine, tailored to treat a unique mutation. The one-person drug, designed for her by a Boston doctor, Timothy Yu, is being called atipeksen, for A-T and Ipek.

To create atipeksen, Yu borrowed from recent biotech successes like gene therapy. Some new drugs, including cancer therapies, treat disease by directly manipulating genetic information inside a patients cells. Now doctors like Yu find they can alter those treatments as if they were digital programs. Change the code, reprogram the drug, and theres a chance of treating many genetic diseases, even those as unusual as Ipeks.

The new strategy could in theory help millions of people living with rare diseases, the vast majority of which are caused by genetic typos and have no treatment. US regulators say last year they fielded more than 80 requests to allow genetic treatments for individuals or very small groups, and that they may take steps to make tailor-made medicines easier to try. New technologies, including custom gene-editing treatments using CRISPR, are coming next.

Where it had taken decades for Ionis to perfect its drug, Yu now set a record: it took only eight months for Yu to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

I never thought we would be in a position to even contemplate trying to help these patients, says Stanley Crooke, a biotechnology entrepreneur and founder of Ionis Pharmaceuticals, based in Carlsbad, California. Its an astonishing moment.

Antisense drug

Right now, though, insurance companies wont pay for individualized gene drugs, and no company is making them (though some plan to). Only a few patients have ever gotten them, usually after heroic feats of arm-twisting and fundraising. And its no mistake that programmers like Mehmet Kuzu, who works on data privacy, are among the first to pursue individualized drugs. As computer scientists, they get it. This is all code, says Ethan Perlstein, chief scientific officer at the Christopher and Dana Reeve Foundation.

A nonprofit, the A-T Childrens Project, funded most of the cost of designing and making Ipeks drug. For Brad Margus, who created the foundation in 1993 after his two sons were diagnosed with A-T, the change between then and now couldnt be more dramatic. Weve raised so much money, weve funded so much research, but its so frustrating that the biology just kept getting more and more complex, he says. Now, were suddenly presented with this opportunity to just fix the problem at its source.

Ipek was only a few months old when her father began looking for a cure. A geneticist friend sent him a paper describing a possible treatment for her exact form of A-T, and Kuzu flew from Sunnyvale, California, to Los Angeles to meet the scientists behind the research. But they said no one had tried the drug in people: We need many more years to make this happen, they told him.

Courtesy Photo (Yu)

Kuzu didnt have years. After he returned from Los Angeles, Margus handed him a thumb drive with a video of a talk by Yu, a doctor at Boston Childrens Hospital, who described how he planned to treat a young girl with Batten disease (a different neurodegenerative condition) in what press reports would later dub a stunning illustration of personalized genomic medicine. Kuzu realized Yu was using the very same gene technology the Los Angeles scientists had dismissed as a pipe dream.

That technology is called antisense. Inside a cell, DNA encodes information to make proteins. Between the DNA and the protein, though, come messenger molecules called RNA that ferry the gene information out of the nucleus. Think of antisense as mirror-image molecules that stick to specific RNA messages, letter for letter, blocking them from being made into proteins. Its possible to silence a gene this way, and sometimes to overcome errors, too.

Though the first antisense drugs appeared 20 years ago, the concept achieved its first blockbuster success only in 2016. Thats when a drug called nusinersen, made by Ionis, was approved to treat children with spinal muscular atrophy, a genetic disease that would otherwise kill them by their second birthday.

Yu, a specialist in gene sequencing, had not worked with antisense before, but once hed identified the genetic error causing Batten disease in his young patient, Mila Makovec, it became apparent to him he didnt have to stop there. If he knew the gene error, why not create a gene drug? All of a sudden a lightbulb went off, Yu says. Couldnt one try to reverse this? It was such an appealing idea, and such a simple idea, that we basically just found ourselves unable to let that go.

Yu admits it was bold to suggest his idea to Milas mother, Julia Vitarello. But he was not starting from scratch. In a demonstration of how modular biotech drugs may become, he based milasen on the same chemistry backbone as the Ionis drug, except he made Milas particular mutation the genetic target. Where it had taken decades for Ionis to perfect a drug, Yu now set a record: it took only eight months for him to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

Whats different now is that someone like Tim Yu can develop a drug with no prior familiarity with this technology, says Art Krieg, chief scientific officer at Checkmate Pharmaceuticals, based in Cambridge, Massachusetts.

Source code

As word got out about milasen, Yu heard from more than a hundred families asking for his help. Thats put the Boston doctor in a tough position. Yu has plans to try antisense to treat a dozen kids with different diseases, but he knows its not the right approach for everyone, and hes still learning which diseases might be most amenable. And nothing is ever simpleor cheap. Each new version of a drug can behave differently and requires costly safety tests in animals.

Kuzu had the advantage that the Los Angeles researchers had already shown antisense might work. Whats more, Margus agreed that the A-T Childrens Project would help fund the research. But it wouldnt be fair to make the treatment just for Ipek if the foundation was paying for it. So Margus and Yu decided to test antisense drugs in the cells of three young A-T patients, including Ipek. Whichever kids cells responded best would get picked.

Matthew Monteith

While he waited for the test results, Kuzu raised about $200,000 from friends and coworkers at Google. One day, an email landed in his in-box from another Google employee who was fundraising to help a sick child. As he read it, Kuzu felt a jolt of recognition: his coworker, Jennifer Seth, was also working with Yu.

Seths daughter Lydia was born in December 2018. The baby, with beautiful chubby cheeks, carries a mutation that causes seizures and may lead to severe disabilities. Seths husband Rohan, a well-connected Silicon Valley entrepreneur, refers to the problem as a tiny random mutation in her source code. The Seths have raised more than $2 million, much of it from co-workers.

Custom drug

By then, Yu was ready to give Kuzu the good news: Ipeks cells had responded the best. So last September the family packed up and moved from California to Cambridge, Massachusetts, so Ipek could start getting atipeksen. The toddler got her first dose this January, under general anesthesia, through a lumbar puncture into her spine.

After a year, the Kuzus hope to learn whether or not the drug is helping. Doctors will track her brain volume and measure biomarkers in Ipeks cerebrospinal fluid as a readout of how her disease is progressing. And a team at Johns Hopkins will help compare her movements with those of other kids, both with and without A-T, to observe whether the expected disease symptoms are delayed.

One serious challenge facing gene drugs for individuals is that short of a healing miracle, it may ultimately be impossible to be sure they really work. Thats because the speed with which diseases like A-T progress can vary widely from person to person. Proving a drug is effective, or revealing that its a dud, almost always requires collecting data from many patients, not just one. Its important for parents who are ready to pay anything, try anything, to appreciate that experimental treatments often dont work, says Holly Fernandez Lynch, a lawyer and ethicist at the University of Pennsylvania. There are risks. Trying one could foreclose other options and even hasten death.

Sign up for The Download your daily dose of what's up in emerging technology

Kuzu says his family weighed the risks and benefits. Since this is the first time for this kind of drug, we were a little scared, he says. But, he concluded, theres nothing else to do. This is the only thing that might give hope to us and the other families.

Another obstacle to ultra-personal drugs is that insurance wont pay for them. And so far, pharmaceutical companies arent interested either. They prioritize drugs that can be sold thousands of times, but as far as anyone knows, Ipek is the only person alive with her exact mutation. That leaves families facing extraordinary financial demands that only the wealthy, lucky, or well connected can meet. Developing Ipeks treatment has already cost $1.9 million, Margus estimates.

Some scientists think agencies such as the US National Institutes of Health should help fund the research, and will press their case at a meeting in Bethesda, Maryland, in April. Help could also come from the Food and Drug Administration, which is developing guidelines that may speed the work of doctors like Yu. The agency will receive updates on Mila and other patients if any of them experience severe side effects.

The FDA is also considering giving doctors more leeway to modify genetic drugs to try in new patients without securing new permissions each time. Peter Marks, director of the FDAs Center for Biologics Evaluation and Research, likens traditional drug manufacturing to factories that mass-produce identical T-shirts. But, he points out, its now possible to order an individual basic T-shirt embroidered with a company logo. So drug manufacturing could become more customized too, Marks believes.

Custom drugs carrying exactly the message a sick kids body needs? If we get there, credit will go to companies like Ionis that developed the new types of gene medicine. But it should also go to the Kuzusand to Brad Margus, Rohan Seth, Julia Vitarello, and all the other parents who are trying save their kids. In doing so, they are turning hyper-personalized medicine into reality.

Erika Check Hayden is director of the science communication program at the University of California, Santa Cruz.

Read the rest here:
If DNA is like software, can we just fix the code? - MIT Technology Review

To characterize different patterns of variability of three repeated within-visit blood pressure (BP) readings and to determine the prevalence of specific variation trends in systolic (SBP), diastolic (DBP) blood pressure and pulse pressure (PP).Data from 53737 subjects from the National Health and Nutrition Examination Survey were analyzed. In each subject, three consecutive BP measurements were performed with a minimum time-interval of at least 30s. We propose three patterns of within-visit BP variability (separately for SBP, DBP and PP): (1) increasing trend (BP3>BP2>BP1); (2) decreasing trend (BP1>BP2>BP3) and (3) no trend (BP3BP2BP1). A threshold of minimum change (P>3mmHg) between BP1-BP2 and BP2-BP3 was also applied as a prerequisite for the definition of these trends.An increasing trend was observed among three consecutive measurements of SBP, DBP and PP in 7.4, 10.4 and 10.2%, respectively. When a minimum threshold of 3mmHg was set the respective increasing trends were observed in 1.8, 2.9 and 4.4%, respectively. There was a higher prevalence of decreasing trend within three consecutive SBP, DBP and PP readings: 17, 13.1 and 16.2%, respectively, whereas using a threshold of P >3mmHg the respective prevalence was 6.3, 4.1 and 7.7%. A maximum absolute difference >10mmHg within triplicate of SBP/DBP/PP readings was observed in 12.9, 13 and 29.4%, respectively. In the era of personalized medicine, these patterns are well worth further investigation concerning their pathophysiologic and clinical relevance.

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A cohort-based comprehensive characterization of different patterns of very short-term, within-visit, blood pressure variability. - Physician's Weekly

during the forecast period. The growth in this market is attributed to technological advancements in single-cell analysis products, increasing government funding for cell-based research, growing biotechnology and biopharmaceutical industries, wide applications of single-cell analysis in cancer research, growing focus on personalized medicine, and the increasing incidence and prevalence of chronic and infectious diseases.

New York, Feb. 28, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Single-cell Analysis Market by Cell Type, Product, Technique, Application, End User - Global Forecasts to 2025" - https://www.reportlinker.com/p04579530/?utm_source=GNW However, the high cost of single-cell analysis products is expected to restrain the growth of this market to a certain extent during the forecast period.

The academic & research laboratories segment accounted for the largest market share in 2018On the basis of end user, the single-cell analysis market is segmented into academic and research laboratories, biotechnology and pharmaceutical companies, hospitals and diagnostic laboratories, and cell banks and IVF centers.The academic and research laboratories segment accounted for the largest market share in 2018.

Factors such as growth in funding for life science research and the increasing number of medical colleges and universities are driving the growth of this end-user segment.

Flow cytometry is the largest technique segment of the single-cell analysis marketBased on technique, the single-cell analysis market is segmented into flow cytometry, NGS, PCR, microscopy, mass spectrometry, and other techniques.The flow cytometry segment accounted for the largest market share in 2018.

The large share of this segment is attributed to the wide usage of flow cytometry in detecting and measuring the physical and chemical characteristics of a population of cells or particles.

North America will continue to dominate the single-cell analysis market in 2025The single-cell analysis market, by region, is segmented into North America, Europe, Asia Pacific, Latin America, and the Middle East & Africa.In 2018, North America accounted for the largest share of the single-cell analysis market.

The large share of North America can be attributed to the increasing drug development activities in the pharmaceutical and biotechnology industries, rising prevalence of chronic and infectious diseases, and an increase in stem cell research activities.

The breakup of primary participants is as mentioned below: By Company Type - Tier 1: 45%, Tier 2: 30%, and Tier 3: 25% By Designation - C-level: 35%, Director-level: 25%, and Others: 40% By Region - North America: 40%, Europe: 20%, Asia Pacific: 25%, Latin America: 10%, and the Middle East & Africa: 5%

Prominent players in the single-cell analysis market include Becton, Dickinson and Company (US), Danaher Corporation (US), Merck Millipore (US), QIAGEN (Netherlands), Thermo Fisher Scientific (US), General Electric Company (US), 10x Genomics (US), Promega Corporation (US), Illumina (US), Bio-Rad Laboratories (US), Fluidigm Corporation (US), Agilent Technologies (US), NanoString Technologies (US), Tecan Group (Switzerland), Sartorius AG (Germany), Luminex Corporation (US), Takara Bio (Japan), Fluxion Biosciences (US), Menarini Silicon Biosystems (Italy), and LumaCyte (US).

Research Coverage:The report analyzes the single-cell analysis market and aims at estimating the market size and future growth potential of this market based on various segments such as product, cell type, technique, application, end user, and region. The report also provides a competitive analysis of the key players in this market, along with their company profiles, product offerings, recent developments, and key market strategies.

Reasons to Buy the ReportThe report will enrich established firms as well as new entrants/smaller firms to gauge the pulse of the market, which, in turn, would help them garner a greater share of the market. Firms purchasing the report could use one or a combination of the below-mentioned strategies to strengthen their positions in the market.

This report provides insights into: Market Penetration: Comprehensive information on the product portfolios of the top players in the single-cell analysis market. The report analyzes this market by product, application, cell type, technique, end user, and region Market Development: Comprehensive information on the lucrative emerging markets by product, application, cell type, technique, end user, and region Market Diversification: Exhaustive information about products, growing geographies, recent developments, and investments in the single-cell analysis market Competitive Assessment: In-depth assessment of market shares, growth strategies, product offerings, and capabilities of leading players in the single-cell analysis marketRead the full report: https://www.reportlinker.com/p04579530/?utm_source=GNW

About ReportlinkerReportLinker is an award-winning market research solution. Reportlinker finds and organizes the latest industry data so you get all the market research you need - instantly, in one place.

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The global single-cell analysis market is projected to reach USD 5.6 billion by 2025 from USD 2.1 billion in 2019, at a CAGR of 17.8% - Yahoo Finance

Machine learning is helping Penn Medicine researchers identify the size and shape of brain networks in individual children, which may be useful for understanding psychiatric disorders. In a new study publishedin the journalNeuron,a multidisciplinary team showed how brain networks unique to each child can predict cognition. The study, which used machine learning techniques to analyze the functional magnetic resonance imaging (fMRI) scans of nearly 700 children, adolescents, and young adults, is the first to show that functional neuroanatomy can vary greatly among kids, and is refined during development.

The human brain has a pattern of folds and ridges on its surface that provide physical landmarks for finding brain areas. The functional networks that govern cognition have long been studied in humans by liningup activation patternsthe software of the brainto the hardware of these physical landmarks. However, this process assumes that the functions of the brain are located on the same landmarks in each person. This works well for many simple brain systems. However, multiple recent studies in adults have shown this is not the case for more complex brain systems responsible for executive functiona set of mental processes which includes self-control and attention. In these systems, the functional networks do not always line up with the brains physical landmarks of folds and ridges. Instead, each adult has their own specific layout. Until now, it was unknown how such person-specific networks might change as kids grow up, or relate to executive function.

The exciting part of this work is that we are now able to identify the spatial layout of these functional networks in individual kids, rather than looking at everyone using the same one size fits all approach, says senior authorTheodore D. Satterthwaite, an assistant professor of psychiatry in the Perelman School of Medicine. Like adults, we found that functional neuroanatomy varies quite a lot among different kidseach child has a unique pattern. Also like adults, the networks that vary the most between kids are the same executive networks responsible for regulating the sorts of behaviors that can often land adolescents in hot water, like risk taking and impulsivity.

Read more at Penn Medicine News.

The rest is here:
Machine learning identifies personalized brain networks in children - Penn: Office of University Communications

Michael Vi / Shutterstock

Shares of Iovance Biotherapeutics shot up Tuesday on rumors the company could be up for sale. The news comes a day after the company said it intends to speak with regulatory agencies later this year about its programs in melanoma and cervical cancer.

First reported by Bloomberg, Iovance is reportedly working with a financial adviser about a potential sale following conversations about a potential takeover from a larger company. The information was provided by unidentified sources who are familiar with the matter, Bloomberg said. The news sent shares of Iovance up more than 30% in Tuesdays trading. Part of that boost was due to the companys fourth-quarter progress in its clinical pipeline. In anticipation of potential approval and commercialization of its lead candidates, Iovance said it was building its internal manufacturing capability, as well as expanding its commercial team and infrastructure.

While nothing has been formally stated, Benjamin Burnett, an analyst with Stifel Financial Inc. said in a note that acquiring Iovance would make sense for some companies, including Takeda Pharmaceutical and Gilead Sciences, Bloomberg reported. This morning, Takeda announced its intention to acquire celiac disease-focused PvP Biologics for $330 million to complement its gastrointestinal pipeline. Burnett said Iovance is one of the few cell therapy companies in the coverage of Stifel Financial that has been de-risked to a large degree by a proof-of-concept study. Because of that, Burnett said they can see how this might be one of the more interesting cell therapy take-out candidates.

Despite the potential for an acquisition, Iovance could opt to remain independent, the unidentified sources told Bloomberg. A representative for Iovance declined to comment, Bloomberg added.

San Carlos, Calif.-based Iovance specializes in cell therapy focused on treating solid tumors with tumor infiltrating lymphocyte (TIL) therapies. In a previous interview with BioSpace, Iovance Chief Executive Officer Maria Fardis explained that TIL technology is a boosting of the bodys natural immunity. The TIL is removed from a cancerous tumor, amplified in number through cell culture to attack the disease, then are reinserted into the tumor to do the work. Because the amplified TILs can attack the whole tumor, including any potential mutations, Fardis described it as the most exquisite kind of personalized medicine for a patient.

Iovances investigational candidates include lifileucel, which is being investigated as a potential treatment for melanoma and LN-145, a potential treatment for patients with recurrent, metastatic or persistent cervical carcinoma. Lifileucel has received both fast-track and regenerative medicine advanced therapy from the U.S. Food and Drug Administration in melanoma, a common type of skin cancer, accounting for approximately 96,000 patients diagnosed annually and 7,200 deaths each year in the United States, Fardis said in a call with analysts Tuesday, according to transcripts.

In its most recent announcement regarding lifileucel in melanoma, the company reported an overall response rate (ORR) of 36.4% in 66 patients who were heavily pretreated.

The company is enrolling patients in a second pivotal study of LN-145 in patients with metastatic cervical cancer. During 2019, LN-145 received breakthrough therapy designation or BTD, as well as fast-track designation from the FDA. These designations were supported by compelling data demonstrating a 44% ORR from 27 patients in the ongoing study, Fardis said.

Read more:
Report: Iovance Exploring Potential Sale of the Company - BioSpace

The various technologies that make up IT infrastructure are the foundation for all the other forms of health IT that make hospitals and health systems operate effectively. As such, infrastructure technologies are among the most important in the healthcare information technology arena, and they must be operating optimally.

Here, three infrastructure technology experts from Cisco Systems, Dell Technologies and VMware offer best practices for optimizing infrastructure so that it is working best for individual healthcare provider organizations. They target their advice at healthcare CIOs and other health IT leaders who are looking to make sure their infrastructure is rock solid and humming along smoothly.

To fully optimize infrastructure, IT needs to plan for the entire business transformation journey to include reimagining their apps for the patient/clinician experience and then build the infrastructure for those experiences, said Kathryn Howe, Cisco healthcare director, Americas industry digital transformation.

Patients today need humanized experiences from healthcare providers, personalized interactions, easy access to information, and on-demand responses from clinicians, she explained. To keep up with the ever-changing patient needs, healthcare organizations are becoming more digitized, offering new apps and more. Adopting new technologies can create as many challenges as advantages if organizations focus only on optimizing IT infrastructure. IT needs a digital transformation framework to succeed.

Kathryn Howe, Cisco Systems

Integrating, securing and optimizing the IT infrastructure is the first step in the digital transformation framework, she said.

Its the enablement stage where healthcare providers optimize their IT infrastructures to digitize existing services, she noted. This step will streamline and enhance employee and customer experiences through primary offerings such as home care services, mobile engagement and location-based analytics. With the infrastructure in place, CIOs get to optimize their resources to deliver more value, such as implementing personalized engagement strategies, offering online support groups and virtual services.

The IT infrastructure is fully optimized when it is being used to power the organizations most sophisticated endeavors, she added, from new business models to disruptive digital experiences like AI-driven patient scheduling and predictive analytics.

On another front, typically, when a healthcare provider organization is looking to invest in an IT optimization project, it first considers its internal resources, specifically budget and the potential for staff disruption, said David Dimond, healthcare and life sciences chief innovation officer at Dell Technologies.

We can learn from some of the recent rocky implementations of electronic health records in which budgets exceeded expectations and significant delays were experienced in implementation and integration, he stated. According to one survey, 56% of respondentsdidnt believe that the challenges of adopting a new EHR system were equal to, or outweighed, the benefits of integration.

David Dimond, Dell Technologies

Examples like these have made healthcare organization boards circumspect in investing in digital health projects, Dimond contended.

This thinking is unfortunate, as some infrastructure optimizations can free up resources to invest in innovation, as is the case with multi-cloud deployment, he explained. Adopting, or optimizing, a multi-cloud infrastructure allows healthcare organizations to capture, process and access data significantly faster wherever it resides improving everything from patient care delivery to billing.

Just as every healthcare provider organization must have its own specific business model, each companys cloud strategy must match its specific clinical and business workload needs, he asserted.

Cloud strategies are ever-evolving, not simple one-off solutions, he said. Multi-cloud solutions have come a long way you adopt a hybrid cloud environment with an integrated cloud infrastructure compute, storage, networking and security that runs on premises and in public clouds. Organizations should expect consistent operations with infrastructure across private and public cloud, and the edge for a true hybrid cloud experience that is seamless to its end users.

For example, on-premises solutions may be optimal for certain workloads and ideal in terms of risk reduction and monitoring, while off-premises solutions offer better manageability, ease of procurement and cost, he said.

For this reason, every healthcare provider must decide their own workload priorities and optimize their cloud strategy to match the best location for data and applications, he said. A multi-cloud infrastructure provides a single pane of glass to identify and monitor the data across the healthcare ecosystem, simplifying intelligence at the point of care and collaboration among clinicians.

Christopher Logan, director of healthcare industry strategy at VMware, offers another best practice when optimizing infrastructure technology: operational automation.

Automation in healthcare, when coupled with emerging technologies like AI, does not get its fair amount of press or headlines, he said. When applying automation across/within the infrastructure, basic operational tasks and administration can result in a number of efficiencies like better patient experience, greater employee satisfaction, increased quality of services, improved project delivery and a significant reduction in cost.

Christopher Logan, VMware

Another best practice, he said, is workforce transformation.The workforce is constantly evolving, due to factors such as technological advancements and the demand for new skill sets.

Coupled with the fact that employees today have high expectations for their digital experiences, workforce transformation is critical in achieving broader digital transformation, he explained. It is imperative that all healthcare organizations find the right tools and technologies that provide employees with flexibility and secure access to ease IT management burdens and improve productivity.

This does not stop there, as providing a consistent user experience has the capability to transform both the patient and employee experience, which is critical for engagement and retention, he added.

When it comes to optimizing infrastructure, cybersecurity strategies need to permeate infrastructure as well as all levels of a healthcare provider organization, said Howe of Cisco.

Todays CIOs face more than the risk of costly data breaches, she said. Failing to meet standards like HIPAA can result in fines for up to $1.5 million per year. In order to protect patient data and meet compliance standards, CIOs need to enforce a strategy that permeates all layers of the organization, from technologies to the people.

At the network level, a fully integrated secure IT infrastructure will be key to enabling IT teams to maintain a pulse on all activities in real time and address potential risks before they occur, she advised.

An effective tactic is using micro-segmentation to limit the spread of attacks between devices and across the network by creating profiles, policies and permissions that are specific to those devices, reducing unauthorized access for all users, she said.

At the user level, it is vital to empower and train teams to keep data secure.

Implementing two-factor authentication platforms for patients, healthcare staff and third-party vendors should be a non-negotiable, and can help organizations stay compliant and safe by ensuring that only trusted users and devices can access certain sensitive applications or data, she cautioned. This is especially important as more healthcare organizations adopt remote access technologies and devices to deliver seamless connected experiences to patients and streamline workflows for clinicians.

Logan of VMware agrees with Howe that cybersecurity must be a big part of infrastructure optimization.

Sophistication and frequency of cyberattacks are increasingly placing a strain across all sectors, especially in healthcare, he noted. In order to navigate these complex and dynamic environments, healthcare organizations and their leaders must have a strong investment in digital technologies, and an even larger investment on cybersecurity strategies.

A proactive cybersecurity strategy and shift needs to continue happening across healthcare to protect patient data from security threats, ensuring the availability and integrity of critical healthcare workloads, he added.

Elsewhere, he said that hybrid and public cloud migration is an important part of infrastructure optimizxation.

Organizations across all industries are increasingly adopting hybrid and public cloud models, due to its offerings of scalability, agility and speed to market, he said. By making use of cloud solutions whether from Google, Amazon, Microsoft or another provider healthcare providers can simply scale the technical resources needed to run critical applications and drive cost savings.

At the same time, this is preparing those providers to adopt IT modernization to deliver dynamic on-demand services to meet the needs of their workforce and patients, he added.

The Internet of Things is a big part of healthcare IT infrastructure. An emerging focus for healthcare organizations is building out their IoT strategy.

IoT and edge solutions have been adopted by consumers, most notably, fitness trackers and smartwatches, said Dimond of Dell Technologies. A study by Statistafound that more than 56.7 million people wore wearables like smartwatches and Fitbits in 2019. This market will continue to grow and analysts predict the number of users will increase to 67 million people in 2022.

In an acute care setting, there are 10-15 connected devices for every U.S. hospital bed, which creates a significant amount of data, he noted. Overall, healthcare data grew 878%from 2016 to 2018, with much of it coming from sensors, wearables and mobile apps for preventative care and chronic disease management.

However, it is one thing to generate all this data, and quite another challenge to digest it all and generate patient insights. Healthcare providers are investing in distributed analytics to improve patient safety and monitor recovery, expand chronic disease management, enhance precision medicine through research, and manage pharmaceutical supply safety just to name a few applications, Dimond said.

Real-time analytics at the edge creates an opportunity to identify, refine and understand the data where it originates, for the fastest possible insights and action, he said. To support the distributed network of data-driven devices, healthcare organizations require a multi-faceted approach.

As healthcare provider organizations build their edge and IoT strategy, they need to evaluate their unique multi-cloud approach in parallel with specific application workloads, he advised.

Depending on classification, some data such as EHRs, laboratory information systems and clinical decision application data may be stored on-premises, he concluded. Other data may be stored in the cloud whether private, public or hybrid. It is important to consider how data can flow securely and efficiently from the edge to the data center and to multiple clouds.

Twitter:@SiwickiHealthITEmail the writer:bill.siwicki@himssmedia.comHealthcare IT News is a HIMSS Media publication.

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Tech optimization: Keeping infrastructure tech rock solid - Healthcare IT News

ST. PETERSBURG, Fla.--(BUSINESS WIRE)--InformedDNA, the nations largest independent provider of genetics services, today announced the addition of healthcare industry veterans to its executive leadership team and its board of directors. Paul Danao has joined the company as chief growth officer, responsible for driving revenue growth and retention through sales, marketing and client management. Dr. Jacqueline Kosecoff, a renowned healthcare industry expert, has joined InformedDNAs board as an independent director.

Founded in 2007, InformedDNA was the first company in the U.S. to use telephonic services to connect genetic counselors to patients. Since then, it has expanded to provide technology-led services to patients, healthcare providers, health systems, health plans, and life science organizations.

While the healthcare industry is in the infancy of a genomics revolution, its crucial for health systems, payers and providers to determine now how to infuse the rapid pace of discoveries into the healthcare ecosystem, said David Nixon, chief executive officer at InformedDNA. Jacqueline and Paul both have extensive executive leadership experience at major health plans and health systems. Each will no doubt make substantial contributions to InformedDNA, in their respective roles, as we help bring about a future in which genomics expertise will inform most healthcare decision-making, enabling true precision medicine to become a ubiquitous reality.

Dr. Kosecoff works in private equity to identify, select, mentor and manage health services and IT companies. She is managing partner at Moriah Partners, LLC, and senior advisor at Warburg Pincus. Previously, she served as a senior executive with UnitedHealth Group-PacifiCare where she was chief executive officer of OptumRx. Dr. Kosecoff was founder, president and chief operating officer of Protocare, and earlier, served as professor of Medicine and Public Health at the University of California, Los Angeles. She holds a B.A. from the University of California, Los Angeles, an M.S. in Applied Mathematics from Brown University, and a doctorate from the University of California, Los Angeles.

Said Dr. Kosecoff, Having been involved with InformedDNA as an advisor for the last year, Ive seen first-hand how the company brings a rare depth of genomics expertise to the healthcare industry, leading it to experience more than 50 percent annual growth in each of the last two years. I look forward to my new director role and increased interaction with the companys leaders as we enable additional healthcare companies to better understand the genomics space. This will facilitate better genetics-related decisions that result in more personalized care, improved outcomes, and lower costs.

Danao will focus on aligning sales, marketing and client management activities to deliver consistent and high-value contact to accelerate customer acquisition and retention. Prior to joining InformedDNA, he held senior leadership roles at several healthcare technology and service companies, including BlueCross BlueShield Association, AIM Specialty Health, and Healthcare Payment Specialists. Danao holds a B.B.A. from the University of Michigan and a Master of Health Services Administration from the University of Michigan School of Public Health.

This is a transformational time in the era of genetics-based medical care. InformedDNAs continued commitment to maintaining the highest level of genetics expertise and service excellence has already helped many leading U.S. healthcare organizations to decode the business of genetics, said Paul Danao, InformedDNAs new chief growth officer. Its with much enthusiasm that I join such a talented team of professionals to lead the companys sales and marketing initiatives for services that guide healthcare providers clinical decisions, help shape clinical trial processes, and enable insurers to craft evidence-based coverage policies for genetic tests.

About InformedDNA

InformedDNA is the authority on the appropriate use of genetic testing. It leverages the expertise of the largest, full-time staff of independent, board-certified genetics specialists in the U.S. to help ensure that health plans, hospitals, employers, clinicians and patients all have access to the highest quality genetic services. Key offerings include clinical genetic counseling, genetic testing utilization management, genetic testing payment integrity, and expert genetics clinical trial support. For more information: http://www.InformedDNA.com

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InformedDNA Recruits New Chief Growth Officer, Welcomes Industry Veteran to Board of Directors - Business Wire

Given the quite reasonable concerns this past week over the blinding of three womenby a stem cell clinic injecting fat stem cells into eyes, I thought it was time to take a look at stem-cell-procedure complications. All medical procedures have complications. So what bar can we use to see if those complications are reasonable, and how should those be reported and measured?

First, to decide what complications might be reasonable, we need to understand the playing field of common side effects of conventional treatments. So what are some common complications in my world of orthopedic care, and how often do they happen?

So conventional procedures and widely used medications can have big time complications and rates!

To date, I think weve reported the most comprehensive paper on stem-cell-related complications. In more than 2,300 patients and 3,000 procedures, the total complication rate was 2.0%. Of those, four were deemed to be more serious and definitely related to the procedure by at least one independent reviewer not related to our group. Since this is out of 3.012, this is a serious-complication rate of 0.13%. Pretty small compared to the rates reported above for common orthopedic procedures.

This week we saw reported that the complication rate for the fat stem cell clinic that blinded three consecutive patients was approximately 0.01%. That seems about ten times less, despite the significant reported complications. Why? The data is an apples to oranges comparison.

For our reported data, a registry infrastructure was used where questionnaires were sent to every patient, and if they failed to respond, telephone calls were made. Based on conversations I have had with participating physicians, the stem cell outfit with the complications uses a passive system where the doctors are told to report the complications. Its likely that pinging patients about whats wrong can find more complications when compared to relying on a busy physician to report his or her complications.

Regrettably, the stem cell outfit that blinded these patients hasnt published any safety data on the widespread use of fat stem cells, so there is no research to review. This is concerning.

As you can see from the above risks, stem-cell-based orthopedic therapies have low-risk profiles when compared to conventional orthopedic procedures. Hence, when complications do occur, they are rare. However, to determine risk, efficacy is also needed as part of the calculus. So lets look at knee replacement.

So how good is knee replacement compared to garden-variety physical therapy (PT)? Not great. In a recent study (video below), 3 in 4 knee-replacement candidates undergoing PT instead of surgery decided not get a knee replacement after one year.Also you need to amputate 56 knees to find just one patient who reports more than a 15% functional improvement as a result of this maximally invasive surgery.

Looking at the relative efficacy of two procedures is hard without a head-to-head comparison trial. However, in the case of knee arthritis, we can comparetwo different studies that both compare to PT. In the above caseof knee replacement, we know how that invasive procedure fared, and below well look at a same-day stem cell procedure.

For the stem cell procedure, well be looking at the Regenexx bone-marrow-based version. Below is a graphic that discusses that out of more than 5,000 knee stem-cell-treated patients, as of this month, only about 12% went on to get a knee replacement despite their treatment at 12 years. This was based on 100% response rate from a random sample of 100 registry patients.

Below are the yet unpublished results of our randomized controlled trial where knee-replacement candidates were treated with our Regenexx knee stem cell procedure versus physical therapy:

The patients with a stem cell procedure report more knee function more quickly compared to the physical therapy group (listed here as Exercise Therapy). The PT group crossed over to the stem cell procedure at three months, which is why the PT data is only tracked for that long.

So comparing risks and benefits of these two therapies, the risk of knee replacement is significantly greater and the outcome based on a randomized controlled trial is likely no better than a stem cell injection. Hence, the risk/benefit of a Regenexx-protocol knee stem cell procedure is good compared to traditional care.

The upshot? While the risks of stem cell therapy are likely lower than most traditional treatments, for some indications, like injecting fat stem cells in the eye, that equation goes in the wrong direction. The goal with todays review was also to open a debate about when stem cell therapy is likely the better option.So lets have a reasonable discussion about stem cell risks and not throw the baby out with the bathwater!

See the article here:
complication rates stem cell procedures - Regenexx

Stem cell therapies have the potential to treat many conditions, but so far theres little proof that they do. Even so, clinics around the world offer stem cell-based treatments for a host of medical problems. New research warns that some of these treatments might not be effective and can, in fact, cause harm sometimes many years down the line.

A report in the journal CMAJ details the case of a 38-year-old man who developed a benign tumor on his spinal cord that his doctors linked to an experimental stem cell treatment he received 12 years earlier. They said his case highlights the hazards of unproven stem cell-based therapies, as well as the length of time it can take for serious problems to arise.

The worst-case scenario is not necessarily that [stem cell therapy] doesnt work, said Dr. Nanette Hache, one of the mans physicians and a professor of radiology at Memorial University of Newfoundland. There can be other complications, such as tumor formation.

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When the man was 20 years old, he injured his spine during a trampoline accident. Even after surgery and rehabilitation, he was left with some paralysis in his arms and severe paralysis in his legs and torso. At age 26, he underwent a stem cell procedure in Portugal that involved transplanting cells from inside his nose onto the spot of his spinal cord injury. The goal was to alleviate his pain and perhaps even help him walk again.

For people who have run out of conventional options, the choice to try something that hasnt been solidly tested could seem low risk and high reward.

You can imagine if you had this type of injury youd want to research it and see if there was anything out there that could potentially help you, Hache said. Even if wasnt mainstream medicine.

Instead of relief, the man experienced additional pain and never gained extra use of his arms or legs. Twelve years later, he was referred to Hache and her colleagues after he noticed decreasing function in his arms and bladder over the previous three or four years.

The team identified a large mass on the upper part of his spine. When they analyzed samples taken from the mass, they matched the cells in the samples to the type of cells that had been transplanted into his spinal cord: cells from the olfactory mucosa the mucous membrane that lines the nasal cavities.

Hache and her colleagues surgically removed part of the mans tumor but could not remove it entirely without risking further injury. While the tumor isnt considered cancerous, the team is using radiation to help slow its regrowth.

Cells from inside the nose may seem like a strange choice for a spinal graft, but the olfactory mucosa is easy to access and contains cells that can differentiate to form various cell types. Scientists are studying their use in stem cell transplants, and there is some evidence to support the idea that this approach could help patients recover from spinal cord injuries.

The procedure has shown some promise in animal models, and the team in Portugal that performed the mans transplant published a pilot study of the procedure in 20 individuals with spinal cord injuries. They reported improvements in about half of them. Other studies had similar findings.

But as Hache and her colleagues point out in the CMAJ report, these studies examined a small number of patients and were neither randomized nor blinded. Given the lack of controls, it is difficult to know whether any improvements were due to the transplant or to the rehabilitation that patients underwent after surgery.

University of Minnesota bioethicist Leigh Turner said this case demonstrates what can happen when techniques and cells that arent fully understood are used to treat disease.

If you put the wrong kinds of cells in the wrong location in the human body, there can be unwanted effects that just arent clear at the time, he said. And they arent necessarily picked up in preclinical research or with animal models.

Some stem cell-based therapies, like bone marrow transplants, are known to be relatively safe and effective. For many other stem cell approaches though, Hache and others believe that more research is needed before they are offered to patients.

The patient she treated joins what may be a growing group of people who experience serious complications from stem cell transplants. A 2018 analysis reported 35 cases of complications or deaths following unproven stem cell-based treatments, including loss of vision, infections, cardiovascular complications, and cancer. While the researchers acknowledged that some of these problems could have been caused by the implant procedure, others are likely the direct result of the yet unproven treatments using stem cells, they wrote.

Cases like this sometimes bring up concerns about stem cell tourism, in which people travel to different countries for operations and treatments that arent available or accessible in their home countries.

While this patient did travel to Portugal, Turner, who has long voiced criticism of clinics that offer unproven treatments, said his case is complicated.

Its not quite as simple as individuals from Canada, United States, and elsewhere going to some kind of dodgy, obscure clinic in the far ends of the world, Turner said, pointing out that the doctor who performed the transplant has published in peer-reviewed journals and appears to have observed few adverse effects in the patients he and his team treated and tracked.

Stem cell-based therapies are available in North America, and the United States actually has the largest number of stem cell clinics in the world. But invasive procedures like this tend to happen more often outside the U.S. and Canada, Hache said.

There are several known cases in which individuals developed similar spinal tumors after undergoing stem cell transplants using olfactory mucosal cells. At least one of them received a stem cell transplant from the same medical team in Portugal as the man Hache is now treating. In its pilot study, the Portuguese team followed patients after their surgery for an average of about 28 months. For Haches patient, that would not have been long enough to detect the mass that eventually grew on his spine.

Its such a slow process for these tumors to grow, Hache said. The latency period can be years and in his case was greater than seven years.

Given the longer time frame needed for such side effects to show, similar cases could arise down the line. There could also be patients who are experiencing long-term effects that havent led to case reports.

Are there other individuals walking around who have these complications and they just didnt make it into the academic literature? Turner said. I think its a possibility. It may be that from a long-term perspective, the safety profile is different. We need to be aware of the possibility of long-term complications.

Stem cell clinics in North America and around the world have been criticized for advertising unproven therapies to patients.

Because people are vulnerable and because theyve got this illness and theyre desperate for a cure of some sort, theyre willing to take risks, Hache said. And they pay a good sum of money to have these treatments done.

The case report notes that olfactory mucosal transplants cost about $50,000, which does not take into account expenses for travel, accommodation, and recovery. Patients may be aware of the costs and some of the risks, said Hache, but cases like this show how many unknowns remain regarding the long-term effects of unproven stem cell therapies.

The patient probably figured, at the end of the day I guess I lost that money and I am not any better, Hache said. Not realizing that there was a worse outcome.

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Case highlights the risks of experimental stem cell ...