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When it comes to applying genomic sequencing in diagnostic medicine, increasing evidence is demonstrating that whole exome sequencing (WES) can sometimes fall short. This is a particular issue when analyzing large segments of DNA from patients and can adversely impact a physician's diagnosis.An alternative to WES is the utilization of a smaller, more targeted genetic test that analyzes a specific panel of genes known to be associated with a certain pathology. These tests are less of a financial burden on healthcare systems and patients and can offer highly accurate results. Targeted NGS is enabling this testing approach, and we're seeing increased adoption of NGS in the clinical diagnostics space.

But what barriers still exist to the full implementation of NGS, and how can we remove them? Technology Networks recently spoke with Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, to learn more.Molly Campbell (MC): How is genome sequencing currently utilized in the oncology diagnostics space? What are its limitations?Luca Quagliata (LQ): Sequencing of DNA and RNA is currently used in routine molecular testing for two purposes. Firstly, they are used with the aim of supporting a diagnostic decision, i.e. differential diagnosis (such as PIDGFA mutation status in gastrointestinal stromal cancer. More commonly, they are adopted to complement a pathology report by adding information related to a clinically relevant genomic variant (e.g. mutations in the EGFR gene) that are directly associated with any specific approved drug treatment (for example, BRAF inhibitors for V600E BRAF mutated melanoma patients).Some of the major limitations of genomic testing are related to quality of the starting material for testing (generally known as pre-analytic issues, e.g. tissue fixation), the ability of a given sequencing method to generate usable results (not every sequencing approach is born equal), the capability of interpreting the results (e.g. is the observed genomic variant a pathogenic alteration or is simply benign?) and finally the economic aspect. Who should pay for the test?MC: Why does WES commonly fail to adequately analyze large segments of DNA?LQ: As above mentioned, not all sequencing methods are born equal, WES can be performed using a variety of library preparation kits, possibly leading to substantially different results.1 Unfortunately, no universally accepted standard has been established for WES, especially for oncology applications.Generally, one of the most common issue is related to the sequencing depth, also known as coverage. High coverage allows to gain higher confidence in the generated results, as the genomic examined regions are analyzed multiple times, thus increasing the robustness of the data. However, high coverage comes at the cost of increasing sequencing price. Plus, even in the absence of any financial constraints, increasing coverage indefinitely is simply not possible due to technical limitations, i.e. the input material will define the maximal reachable coverage.

Furthermore, it is well established that, in certain situations, even pushing the coverage a 100-fold higher does not generate any tangible benefit in terms of data analysis output. Finally, a variety of alignment and calling algorithms can be deployed to identify large DNA segments rearrangements. Once again, no standard is strictly defined, thus the varying ability of different algorithms will greatly impact the final result. To conclude, while robust approaches are in place for single nucleotide variants (SNV) or multiple nucleotide variants (MNP), as well as insertions and deletions (INDEL), this is not the case when applying WES to study large DNA segments. Nowadays, microarray-based investigations are very popular for assessment of large genomic rearrangements.MC: Why is a targeted test more suitable in the diagnostics space?LQ: Targeted NGS is most commonly used for routine diagnostics because:

MC: NGS is becoming increasingly easier for patients to access and costs are rapidly declining. In your opinion, will we reach a stage where a genetic test is as common as, say, having a blood test when you visit your healthcare provider?LQ: While the price of NGS, meaning reagents related costs to perform the test, is undoubtedly going down, one should not forget that the largest fraction of NGS cost is generated by the human labor necessary to carry out the analysis. Thus, any technological approach that will reduce human intervention in the process will be the most effective in compressing the overall sequencing cost to enable true democratization of NGS.At Thermo Fisher Scientific, we recently made a significant step in this direction with the launch of the Ion Torrent Genexus System, the first research NGS solution that automates the entire specimen to report workflow in a single day with only two touch points.Having said that, there is no doubt that sequencing will eventually become as common as performing a classical blood check. The question is, rather, when will it happen?

In my opinion, that will largely depend not exclusively on the reduction of the overall NGS cost, but rather our ability to expand our understanding of the genomic variants clinical implications. As for now, only a limited fraction of variants can be clearly classified and associated with either a clinical condition or a drug treatment benefit. In my view, it is rather a matter of knowledge than merely a problem of costs. We use blood testing not only because it is easy and cheap, but because we can generate valuable and meaningful information through it.MC: The number of individuals undergoing direct-to-consumer genetic testing at home is on the rise. In your opinion, what impact is this having on the use of genetic testing in the clinical spaceLQ: Direct-to-consumer (DTC) genetic testing is an interesting recent phenomenon that in my view poses several questions, mainly regarding the quality of the results it provides. Several regulatory agencies have expressed concerns and are now acting with the aim of monitoring this market. In this initial and still immature phase of DTC, I strongly advocate for the implementation of a regulatory framework that should be considered not a barrier to wide genomic testing access but rather a safeguard.Should that framework be implemented, then DTC market expansion will have a positive effect on the use of genetic testing in the clinical space, as an audience of genetic-educated patients will also inevitably push physicians toward the adoption of genomics in medicine.

Should the DTC genetic market be given complete freedom, I am concerned that it would negatively impact genetic testing in the clinical space, as people might be easily convinced that managing this kind of data is simplistic, and thus the value of a controlled and professionally regulated testing approach will lose value. I think of this in relation to the "Dr Google self-medication" phenomenon.MC: What challenges still exist in the use of NGS in diagnostics?LQ: Overall NGS data generation and interpretation is still perceived as being extremely complex. Furthermore, while we are witnessing an increase in policy coverage for NGS testing, reimbursement remains a practical issue as well as NGS results being restricted to very specific indications. Finally, limited medical education and awareness regarding the value of genetic testing remains high in the healthcare community, with a substantial knowledge gap between physicians working at large academic centres and those working in the community setting. It will take a shared collective effort to remove the above-mentioned barriers to allow broad adoption of NGS in routine diagnostics. No single company, as large as it could be, can achieve such results.

We at Thermo Fisher Scientific are on the front-line supporting precision medicine through partnering with a variety of major stakeholders in the field, from patient advocacy groups to medical associations and Pharma.

Luca Quagliata, Ph.D., Global Director of Medical Affairs for Thermo Fisher Scientific, was speaking to Molly Campbell, Science Writer, Technology Networks.References:

1. Clinical Exome Studies Have Inconsistent Coverage, Clinical Chemistry, Volume 66, Issue 1, January 2020, Pages 199206.

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Removing the Barriers to Broad Adoption of NGS in Diagnostics - Technology Networks

CALGARY -- When Madden Ellis Garraway was just under two-years-old, he became very sick.

His skin was so dry it bled and he couldnt hold down food, causing his weight dropped to within ounces of his birth weight of seven pounds, six ounces.

Doctors struggled to figure out what was wrong.

We had a large list of things that we were thinking of, and our immunology team and my colleagues who are working with Madden were having trouble arriving at the right one," said Dr. Francois Bernier, head of the Department of Medical Genetics and a professor in the Department of Paediatrics at the University of Calgary's Cumming School of Medicine.

"In fact, we made some attempts to arrive at a diagnosis but we're still unsure. It took a while.

Doctors often struggle with diagnosing unusual health issues, especially those that may require genetic testing.

They often must rely on genome sequencing tests to determine the root cause of a disease and until now, large-scale genome sequencing tests were often sent to labs in the United States for analysis.

Bernier calls it "the diagnostic odyssey," a long, difficult, journey for families waiting while cliniciansfigure out what is causing the underlying health issues.

Madden Garraway in hospital at the age of two. (Photo courtesy the Garraway family)

Maddens family can attest to that.

It was months of waiting, wondering and worrying before Madden's blood was sent to a U.S. lab for genome analysis, where it was learned he suffered from a rare genetic condition called immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome.

IPEX is a rare genetic disorder that can be life threatening.

"If we could have learned about that instantly, or within the several weeks that we can do now, that will save a lot of time," said Maddens father, Patrick Garraway.

"We could have got on with his bone marrow transplant sooner."

Madden received a bone marrow transplant from his sister. Now five-years-old, the playful youngster has made a full recovery and no longer requires medication.

"There are so many families waiting for answers to serious medical conditions," said Bernier.

"Access to gene sequencing early in the medical journey can pinpoint the best treatment approaches and therapies to target the illness."

Madden Garraway today at the age of five. (Photo courtesy the Garraway family)

A new partnership struck between the University of Calgary, University of Alberta, and Alberta Precision Laboratorieswill help families and medical professionalsanswer to those diagnostic puzzles sooner.

The partnership is funded by Genome Canada, the Alberta Childrens Hospital Foundation, and other partners. Four other centres in Canada are also undertaking similar programs through Genome Canadas funding, one in B.C., two in Ontario and one in Quebec.

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Rapid genetic testing becomes available to Calgary medical community - CTV News

Jennifer Cook has dealt with migraine headaches and nosebleeds since she was in junior high school, but it wasnt until much later in life, after two small strokes in her 40s, that she discovered these seemingly disconnected ailments including strange, little red dots on her hands and face were all symptoms of a genetic disorder running rampant through three generations of her family.

We all started to connect the dots, said Cook, 48, of Sacramento, referring to about a decade ago, when her father was the first in the family diagnosed with hereditary hemorrhagic telangiectasia, or HHT, a little-known disorder causing malformed blood vessels that can affect the skin and other organs. Since then, her aunt, sister, two of her brothers and two of her daughters also have been diagnosed.

It was so shocking to find out, said her daughter Nina Murphy-Cook, 23, also of Sacramento, who was diagnosed four years ago. Bloody noses, headaches and strokes in really young people. Literally, we had no idea. We all got those little red spots on the skin. My mom just called them Irish moles and said it was just something our family gets.

Cook and her daughter, now patients at Stanford Health Cares recently designatedHHT Center of Excellence, are under the care of a multidisciplinary team of specialists that includes interventional radiologists, neurosurgeons, pulmonologists, otolaryngologists, hematologists, gastroenterologists and a genetic counselor. The team members diagnose, prevent and, if necessary, treat the disparate problems that can result from this often undiagnosed and misdiagnosed disease.

If people get diagnosed and treated, they can have a normal life expectancy with this disease, said Edda Spiekerkoetter, MD, associate professor of pulmonary and critical care medicine and director of the Stanford HHT center. Otherwise, theyre susceptible to chronic, dangerous illnesses without even knowing there are treatments that can prevent them from happening. Key to solving this problem is better educating the public, including doctors, on how to recognize the symptoms. Shes educating primary care physicians, otolaryngologists and dentists, in particular, to serve as frontline screeners: They can keep an eye out for the hallmark red dots, called teleangiectasia, in the oral cavity and on lips and ask about nosebleeds, which are extremely common in patients.

HHTcauses abnormal connections, called arteriovenous malformations, to develop between arteries and veins. They can cause all sorts of problems. These deformed vessels growmost commonly in the nose, lungs, brain, gut and liver andcan cause brain bleeds, nosebleeds, strokes, gastrointestinal bleeding and heart failure. Themalformationsgrow in place of smaller vessels called capillaries, which normally connect arteries and veins. Capillaries are responsible for oxygen uptake into the blood and filter small particles circulating in the blood. Bypassing the capillary bed, these larger, malformed vessels allow small blood clots, bacteria and air bubbles to circulate throughout the body unfiltered. This can lead to strokes or a reduction of oxygen in the blood, which can lead to shortness of breath and exhaustion.

To prevent complications from these deformed vessels in the lungs, you need an interventional radiologist to step in; to prevent brain bleeds, you need a neurosurgeon;abdominal bleeds and anemia can be controlled by a gastroenterologist and hematologist; andotolaryngologists can help prevent severe nosebleeds, Spiekerkoetter said. While HHT is rare affecting an estimated 1 in 5,000 people 90% of cases go undiagnosed, Spiekerkoetter said. Patients often dont get diagnosed until after a serious event, such as a stroke.

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Patients turn to Stanford's center of excellence for treatment of hereditary hemorrhagic telangiectasia - Stanford Medical Center Report

To examine genetic associations with food preferences, researchers from the Riken Center for Integrative Medical Sciences (IMS) and Osaka University in Japan studied the genetic data and food preferences of more than 160,000 people in Japan.

The research, published in the journal Nature Human Behavior, found genetic links for 13 dietary habits including consumption of alcohol, other beverages and foods, and also complex human diseases such as cancer and diabetes.

"We know that what we eat defines what we are, but we found that what we are also defines what we eat," said Yukinori Okada, Senior Visiting Scientist at Riken IMS and professor at Osaka University, in a press release.

This involves grouping thousands of people together depending on whether they have a disease and looking at DNA markers called single nucleotide polymorphisms, or SNPs, which can be used to predict the presence of that disease. If researchers find a SNP that is repeatedly associated with the disease group, they can assume that people with that genetic variation might be at risk for the disease.

Rather than looking at diseases, the Riken team examined dietary habits to find out if there were any markers that made people "at risk" for typically eating certain foods.

The researchers used data of more than 160,000 Japanese people from the BioBank Japan Project, launched in 2003 with a goal to provide evidence for the implementation of personalized medicine. The project collects DNA and clinical information, including items related to participants' lifestyles such as dietary habits, which were recorded through interviews and questionnaires.

They found nine genetic locations that were associated with consuming coffee, tea, alcohol, yogurt, cheese, natto (fermented soy beans), tofu, fish, vegetables and meat.

Variants responsible for the ability to taste bitter flavors were also observed. This association was found among people who liked to eat tofu; while those without the variant consumed less alcohol or none at all.

Those who ate more fish, natto, tofu and vegetables had a genetic variant that made them more sensitive to umami tastes, best described as savory or "meaty" flavors.

The main ingredients of the foods mattered, too -- for example, there were positive genetic correlations between eating yogurt and eating cheese, both milk-based foods.

In order to find whether any of these genetic markers associated with food were also linked with disease, the researchers conducted a phenome study.

The phenome comprises all the possible observable traits of DNA, known as phenotypes. Six of the genetic markers associated with food were also related to at least one disease phenotype, including several types of cancer as well as type 2 diabetes.

Nature vs. nurture: Food edition

Since the research studied only people native to Japan, the same genetic variations associated with food preferences are likely not applicable to populations across the globe. However, similar links have been discovered in different groups.

The study authored by Okada also didn't measure environmental factors. Our environment, demographics, socioeconomic status and culture -- such as whether we eat food from work or home; our age; how much money we make; and what our families eat -- are some of the biggest drivers of our food choices.

"These factors would weigh more than the genetics in some cases," said Dr. Jos Ordovs, director of Nutrition and Genomics at Tufts University in Massachusetts, who was not involved in the study.

"Something that sometimes we have felt is that the nutrition field has been focusing too much on nutrients rather than on foods," Ordovs said.

"Previous studies have been looking at genes that were associating with higher protein intake or higher fat intake or higher carbohydrate intake," Ordovs said. "But this study is more aligned with the fact that people eat foods. They don't just eat proteins, carbohydrates and fats. People tend to eat within a specific pattern."

Further research is needed to explain an exact balance between genetic predisposition and volition when it comes to food choices in different groups of people, but Okada suggests that by "estimating individual differences in dietary habits from genetics, especially the 'risk' of being an alcohol drinker, we can help create a healthier society."

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Prefer tea over coffee? It could be your genes, study finds - CNN

Things change fast. Even just a few months ago, most of us who arent virologists, microbiologists, or veterinarianshad probably never heard of coronaviruses. Yet last week, the Centers for Disease Control and Prevention advised that its not a question of whether the outbreak of a coronavirus known as SARS-CoV-2 (and its associated disease, COVID-19) would spread in U.S. communities, but whenand we should be prepared for potential disruptions in our daily lives as a result.

But this change didnt come out of nowhere. Even though this particular viral strain only recently emerged as a new human disease, coronaviruses have been around for a very long time. Likewise,Susan Weiss,a professor of microbiology at the Perelman School of Medicine, is newly quite busy launching research projects to help respond to the threat of the novel coronavirusbut coronaviruses generally have been a major focus of her research for four decades.

Coronaviruses first became better known among non-scientists in early 2003 thanks to the virus familys first famous human disease: Severe Acute Respiratory Syndrome (SARS). The agent, called SARS-CoV, started to cause illness in southern China before spreading to North America, South America, Europe, and Asia. It was really scary because there was a high mortality rate, but compared to whats going on now, it was fairly contained and small, Weiss says. Ultimately SARS dissipated within about eight months. Since 2004 there have been no more known cases. But SARS was a warning shotmore viruses like it could be out there, on the verge of transforming into strains that cause serious human illness. Based on analyses of the SARS virus and searches for related genetic sequences in the environment where it emerged, scientists determined that the human virus evolved from a bat coronavirus that infected a civet, from which it mutated again and jumped to humans.

After SARS, people started looking for human coronaviruses, and two others were identified, Weiss says. These new strains caused some more severe symptoms than a typical cold but were still rarely fatal.

Read more at Penn Medicine News.

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The biology of coronaviruses: From the lab to the spotlight - Penn: Office of University Communications

There are plenty of possible choices, but perhaps the most obnoxious type of Instagram selfie is the gym snapshot. In the world of social media, did you really visit the gym if you didnt post about it? These images and their captions usually make exercise seem like a breeze; a daily ritual that the fitness influencers of the world seem to be able to accomplish without the slightest bit of hesitation. For the rest of us, though, visiting the gym can feel like a struggle.

If youve ever felt like an entirely different species than the people who smile their way through 6 AMgym sessions four days per week, a new study finds that may not be as outlandish as it initially sounds. No, those people arent aliens, but researchers from Kings College London have discovered a connection between ones genes and their ability to exercise.

More specifically, theyve found a genetic mutation that appears to seriously hinder an individuals capacity to exercise efficiently. This mutation affects ones cellular oxygen sensing. Basically, this means that people with this genetic variation run out of breath faster and find it harder to partake in aerobic exercises.

These findings could seriously come in handy the next time your co-worker signs you up for that 5K run next month. Sorry, I totally would but my genes just wont cooperate!

To come to their conclusions, the studys authors examined a local patient who exhibited a particularly slow rate of physical growth, constant low blood sugar, a limited ability to exercise, and a large amount of red blood cells.

Over the course of that examination, the patient was placed in a simulated high altitude environment, had their exercise capacity formally measured, and underwent a series of metabolic tests.

This analysis allowed them to zero in on the specific gene that is influenced by this mutation: thevon Hippel-Lindau (VHL) gene. This gene is actually incredibly important for all us whenever our oxygen availability is reduced.

Upon closely analyzing the patients VHL gene, researchers noted that the mutation appears to cause impaired functionality in the mitochondria, the cellular powerhouse that uses oxygen to produce fuel. This hampered mitochondrial function is what causes people with this mutation to have an especially hard time with aerobic exercises.

So, the average persons cells are fully equipped to deal with a lack of oxygen, but those with this mutation dont share the same luxury.

The discovery of this mutation and the associated phenotype is exciting because it enables a deeper understanding of human physiology, especially in terms of how the human body senses and responds to reduced oxygen availability, comments study author Dr Federico Formenti, from KCLs School of Basic & Medical Biosciences, in a press release.

Before you go and cancel your gym membership while citing medical reasons, keep in mind this was an initial observation in one patient. Some days, we would all love an extra excuse to skip the gym and stay on the couch, but these findings are very, very preliminary. As of now, researchers are unsure just how prevalent this gene mutation is, as well as the full extent to which it can impact a persons life.

Regardless, this study is very noteworthy due to the simple fact that it has proven that some people are indeed genetically disinclined to exercising.

The full study can be found here, published in the New England Journal of Medicine.

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This is why you always skip the gym, according to scientists - Ladders

As the new coronavirus makes its way around the world, doctors and researchers are searching for drugs to treat the ill and stop the spread of the disease, which has already killed more than 3,800 people since its introduction in Wuhan, China, in December.

The culprit virus is in the same family as the coronavirusesthat caused two other outbreaks, severe acute respiratory syndrome and MiddleEast respiratory syndrome. But the new coronavirus may be more infectious. Inearly March, the number of confirmed cases of the new disease, called COVID-19,had exceeded 100,000, far surpassing the more than 10,600 combined total casesof SARS and MERS.

Health officials are mainly relying on quarantines to try tocontain the virus spread. Such low-tech public health measures were effectiveat stopping SARS in 2004, Anthony Fauci, director of the U.S. NationalInstitute of Allergy and Infectious Diseases, said January 29 in Arlington,Va., at the annual American Society for Microbiologys Biothreats meeting.

But stopping the new virus may require a more aggressive approach. In China alone, about 300 clinical trials are in the works to treat sick patients with standard antiviral therapies, such as interferons, as well as stem cells, traditional Chinese medicines including acupuncture, and blood plasma from people who have already recovered from the virus.

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Researchers are not stopping there. They also are working to develop drugs to treat infections and vaccines to prevent them (SN: 3/14/20, p. 6). But creating therapies against new diseases often takes years, if not decades. With this new coronavirus, now known as SARS-CoV-2, nobody wants to wait that long. Thanks to their experience developing treatments against the MERS coronavirus, as well as other diseases, such as HIV, hepatitis C, influenza, Ebola and malaria, researchers are moving quickly to see what they can borrow to help patients sooner.

Finding new uses for old drugs is a good strategy,especially when racing to fight a fast-moving disease for which there is notreatment, says Karla Satchell, a microbiologist and immunologist atNorthwestern University Feinberg School of Medicine in Chicago.

Repurposing drugs is absolutely the best thing that could happen right now, Satchell says. Potentially, drugs that combat HIV or hepatitis C might be able to put the new coronavirus in check, too. Those drugs exist. Theyve been produced. Theyve been tested in patients, she says. Although these drugs arent approved to treat the new coronavirus disease, theyre a great place to start. One of the most promising candidates, however, hasnt yet been approved for any disease.

Scientists have been quick to reveal the new coronavirussecrets. When SARS emerged in 2002, researchers took about five months to get acomplete picture of the viruss genetic makeup, or genome. With the new virus,Chinese health officials first reported a cluster of mysterious pneumonia casesin Wuhan to the World Health Organization on December 31. By January 10, thenew coronaviruss full genome was made available to researchers worldwide inpublic databases.

A viruss genome is one of the most valuable toolsscientists have for understanding where the pathogen came from, how it worksand how to fight it. The first thing that coronaviruses have in common is thattheir genetic material is RNA, a chemical cousin to DNA.

Researchers immediately began comparing the newcoronaviruss genome with SARS and MERS viruses and other RNA viruses todetermine whether drugs developed to combat those disease-causing organismswould work against the new threat. As a result, some potential Achilles heelsof SARS-CoV-2 have already come to light.

One target is the viruss main protein-cutting enzyme,called M protease. RNA viruses often make one long string of proteins thatlater get cut into individual proteins to form various parts of the virus. Inthe new coronavirus, the M protease is one of 16 proteins that are linked likebeads on a string, says Stephen Burley, an oncologist and structural biologistat Rutgers University in Piscataway, N.J.

The virus can mature and infect new cells only if M proteasecan snip the string of proteins free, he says. Stop the protease from cuttingand the virus cant reproduce, or replicate.

Existing drugs might be able to stop the viruss M protease, two research groups proposed online January 29 at bioRxiv.org. One group suggested four drugs, including one used to treat hepatitis C and two aimed at HIV. A second group named 10candidates, including an anti-nausea medication, an antifungal drug and some cancer-fighting drugs.

HIV and hepatitis C are both RNA viruses that need aprotease to cut proteins free from long chains. Drugs that inhibit thoseproteases can reduce levels of the HIV and hepatitis C viruses to undetectable.Some of those drugs are now being tested against the new coronavirus inclinical trials in China.

The HIV drug Kaletra, also called Aluvia, is a combination of two protease inhibitors, lopinavir and ritonavir. Kaletras maker, the global pharmaceutical company AbbVie, announced on January 26 that it is donating the drug to be tested in COVID-19 patients in China. Kaletra will be tested alone or in combination with other drugs. For instance, researchers may combine Kaletra with Arbidol, a drug that prevents some viruses from fusing with and infecting human cells. Arbidol may be tested on its own as well.

But the HIV drugs may not work against the new virus because of two differences in the proteases. The coronavirus protease cuts proteins in different spots than the HIV protease does, say Guangdi Li of the Xiangya School of Public Health of Central South University in Changsha, China, and Erik De Clercq, a pioneer in HIV therapy at KU Leuven in Belgium. Secondly, the HIV drugs were designed to fit a pocket in HIVs protease that doesnt exist in the new coronaviruss protease, the researchers reported February 10 in Nature Reviews Drug Discovery.

Yet a few anecdotal accounts suggest the HIV drugs may help people with COVID-19 recover. Doctors at Rajavithi Hospital in Bangkok reported in a news briefing February 2 that they had treated a severely ill 70-year-old woman with high doses of a combination of lopinavir and ritonavir and the anti-influenza drug oseltamivir, which is sold as Tamiflu. Within 48 hours of treatment, the woman tested negative for the virus.

Her recovery may be due more to the HIV drugs than to oseltamivir. In 124 patients treated with oseltamivir at Zhongnan Hospital of Wuhan University, no effective outcomes were observed, doctors reported on February 7 in JAMA. Clinical trials in which these drugs are given to more people in carefully controlled conditions are needed to determine what to make of those isolated reports.

Researchers may be able to exploit a second weakness in thevirus: its copying process, specifically the enzymes known as RNA-dependent RNApolymerases that the virus uses to make copies of its RNA. Those enzymes areabsolutely essential, says Mark Denison, an evolutionary biologist atVanderbilt University School of Medicine in Nashville. If the enzyme doesntwork, you cant make new virus.

Denison and colleagues have been testing molecules that muckwith the copying machinery of RNA viruses. The molecules mimic the nucleotidesthat RNA polymerases string together to make viral genomes. Researchers havetested chemically altered versions of two RNA nucleotides adenosine andcytidine against a wide variety of RNA viruses in test tubes and in animals.The molecules get incorporated into the viral RNA and either stop it fromgrowing or they damage it by introducing mutations, Denison says.

One of the molecules that researchers are most excited aboutis an experimental drug called remdesivir. The drug is being tested in peoplewith COVID-19 because it can stop the MERS virus in the lab and in animalstudies. The drug has also been used in patients with Ebola, another RNA virus.

Remdesivir has been given to hundreds of people infected with Ebola, without causing serious side effects, but the drug hasnt been as effective as scientists had hoped, virologist Timothy Sheahan of the University of North Carolina at Chapel Hill said January 29 at the Biothreats meeting. In a clinical trial in Congo, for example, about 53 percent of Ebola patients treated with remdesivir died, researchers reported November 27 in the New England Journal of Medicine. Thats better than the 66 percent of infected people killed in the ongoing Ebola outbreak, but other drugs in the trial were more effective.

Several tests of remdesivir in lab animals infected with MERS have researchers still hopeful when it comes to the new coronavirus. In studies in both rhesus macaques and mice, remdesivir protected animals from lung damage whether the drug was given before or after infection. Molecular pathologist Emmie de Wit of NIAIDs Laboratory of Virology in Hamilton, Mont., and colleagues reported the monkey results February 13 in the Proceedings of the National Academy of Sciences.

Remdesivir appears to be one of the most promisingantiviral treatments tested in a nonhuman primate model to date, the teamwrote. The results also suggest remdesivir given before infection might helpprotect health care workers and family members of infected people from gettingsevere forms of the disease, Sheahan says.

Denison, Sheahan and colleagues tested remdesivir on infected human lung cells in the lab and in mice infected with MERS. Remdesivir was more potent at stopping the MERS virus than HIV drugs and interferon-beta, the researchers reported January 10 in Nature Communications.

But the question is still open about whether remdesivir canstop the new coronavirus.

In lab tests, it can. Both remdesivir and the antimalaria drug chloroquine inhibited the new viruss ability to infect and grow in monkey cells, virologist Manli Wang of the Wuhan Institute of Virology of the Chinese Academy of Sciences and colleagues reported February 4 in Cell Research. Remdesivir also stopped the virus from growing in human cells. Chloroquine can block infections by interfering with the ability of some viruses including coronaviruses to enter cells. Wang and colleagues found that the drug could also limit growth of the new coronavirus if given after entry. Chloroquine also may help the immune system fight the virus without the kind of overreaction that can lead to organ failure, the researchers propose.

In China, remdesivir is already being tested in patients. And NIAID announced February 25 that it had launched a clinical trial of remdesivir at the University of Nebraska Medical Center in Omaha. The first enrolled patient was an American evacuated from the Diamond Princess cruise ship in Japan that had been quarantined in February because of a COVID-19 outbreak.

Ultimately, nearly 400 sick people at 50 centers around theworld will participate in the NIAID trial, which will compare remdesivir with aplacebo. The trial may be stopped or altered to add other drugs depending onresults from the first 100 or so patients, says Andre Kalil, an infectiousdisease physician at the University of Nebraska Medical Center.

Researchers considered many potential therapies, but basedon results from the animal and lab studies, remdesivir seemed to be the onethat was more promising, Kalil says.

In the early patient studies, figuring out when to give remdesivirto patients might not be easy, Sheahan says. Often drugs are tested on thesickest patients. For example, those in the NIAID trial must have pneumonia toparticipate. By the time someone lands in the intensive care unit withCOVID-19, it may be too late for remdesivir to combat the virus, Sheahan says.It may turn out that the drug works best earlier in the disease, before viralreplication peaks.

We dont know because it hasnt really been evaluated inpeople how remdesivir will work, or if it will work at all, Sheahan cautions.

The drug seems to have helped a 35-year-old man in Snohomish County, Wash., researchers reported January 31 in the New England Journal of Medicine. The man had the first confirmed case of COVID-19 in the United States. He developed pneumonia, and doctors treated him with intravenous remdesivir. By the next day, he was feeling better and was taken off supplemental oxygen.

Thats just one case, and the company that makes remdesivirhas urged caution. Remdesivir is not yet licensed or approved anywhereglobally and has not been demonstrated to be safe or effective for any use,the drugs maker, biopharmaceutical company Gilead Sciences, headquartered inFoster City, Calif., said in a statement on January 31.

But global health officials are eager to see the drug testedin people. Theres only one drug right now that we think may have realefficacy, and thats remdesivir, WHOs assistant director-general BruceAylward said during a news briefing on February 24. But researchers in Chinaare having trouble recruiting patients into remdesivir studies, partly becausethe number of cases has been waning and partly because too many trials ofless-promising candidates are being offered. We have got to start prioritizingenrollment into those things that may save lives and save them faster, Aylwardsaid.

Another strategy for combating COVID-19 involves distracting the virus with decoys. Like the SARS virus, the new virus enters human cells by latching on to a protein called ACE2. The protein studs the surface of cells in the lungs and many other organs. A protein on the surface of the new virus binds to ACE2 10 to 20 times as tightly as the SARS protein does.

Researchers at Vienna-based Apeiron Biologics announced February 26 that they would use human ACE2 protein in a clinical trial against the new coronavirus. When released into the body, the extra ACE2 acts as a decoy, glomming on to the virus, preventing it from getting into cells.

ACE2 isnt just a viruss doorway to infection. Normally, it helps protect the lungs against damage, says Josef Penninger, an immunologist at the University of British Columbia in Vancouver and a cofounder of Apeiron. Penninger and colleagues reported the proteins protective qualities, based on studies with mice, in Nature in 2005.

During a viral infection, the protein is drawn away from thecell surface and cant offer protection. Penninger thinks that adding in extraACE2 may help shield the lungs from damage caused by the virus and by immunesystem overreactions. The protein is also made in many other organs. Penningerand colleagues are testing whether the new virus can enter other tissues, whichmight be how the virus leads to multiple organ failures in severely ill people.

The decoy protein drug, called APN01, has already beenthrough Phase I and Phase II clinical testing. We know its safe, Penningersays. Now researchers just need to determine whether it works.

No one knows whether any of these approaches can help stemthe spread of COVID-19.

Right now, we need lots of people working with lots ofideas, Satchell says. Similarities between the viruses that cause SARS andCOVID-19 may mean that some drugs could work against both. There is a hopethat several small molecules that were identified as inhibitors of the SARSprotease would represent reasonable starting points for trying to make a drugfor the 2019 coronavirus, Burley says.

The open questionis, can you produce a drug that is both safe and effective quickly enough tohave an impact? SARS was stopped by traditional infection-control measures in2004, before any virus-fighting drugs made it through the development pipeline.

But had a decision been made then to spend $1 billion tomake a safe and effective drug against SARS, Burley says, such a drug might beworking now against the new coronavirus, eliminating the need to spend hundredsof billions of dollars to contain this new infection.

An investment in SARS would not have paid off for peoplewith MERS, which is still a danger in the Middle East. The MERS virus is toodifferent from SARS at the RNA level for SARS drugs to work against it.

But a future coronavirus might emerge that is similar enough to SARS and SARS-CoV-2 to be worth the cost, Burley says. Even if the current outbreak dwindles and disappears, he says, governments and companies should keep investing in drugs that can stop coronaviruses.

Im quite certain that the economic impact of the epidemic is going to run into the hundreds of billions, he says. So you would only need a 1 percent chance of something that was treatable with the drug to show up in the future to have made a good investment.

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

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Repurposed drugs may help scientists fight the new coronavirus - Science News

Swept up in a pancreatic cancer diagnosis is inevitably a sense of fear and sadness.

But at Penn, researchers are bringing new hope to this disease. And with patients like Nick Pifani, its clear that theyre moving in the right direction.

Pifani, from Delran, New Jersey, first noticed some lingering stomach upset in February 2017. He called his family doctor, concernedespecially given that he was an otherwise healthy marathon runner who was only 42. He was sent to a gastrointestinal specialist. A few weeks later, some crippling stomach pain sent him back to the emergency room and he received an MRI that showed a mass on his pancreasStage Three, inoperable, he was told.

He was treated with chemotherapy, along with radiation and, eventually, and after receiving advice from doctors at Penn, his tumor was removed. Thereafter, he realized he had a PALB2 mutationa cousin of the BRCA gene mutation. At that moment, his long-term needs changed and he found himself seeking specialized care at Penn, where he met Kim Reiss Binder, assistant professor of medicine at the Hospital of the University of Pennsylvania (HUP).

Im a planner; I want to understand what [my] potential options are, Pifani says. [Reiss Binder] asked why I was there to see her and I explained and quickly I could tell she wasoutside of her being remarkably intelligenta great listener and a compassionate doctor.

I have a feeling she worries about me more than I do, he laughs.

Pifani has now been in remission for two years and four months; he sees Reiss-Binder every three months for checkups. His survival story is inspiring and a sign of momentum, even if a world without pancreatic cancer is still frustratingly out of reach.

Pancreatic cancer is the third-leading cause of cancer-related death in the United States, outmatched only by lung cancer (No. 1) and colorectal cancer (No. 2). A person diagnosed with pancreatic cancer is still unlikely to survive past five yearsonly 9%of survivors do, giving it the highest mortality rate among every major cancer.

In short, pancreatic cancer seldom paves the way for optimistic narratives. Some of the hope that has surfaced, though, is thanks to some talent, dedication to the cause, and hard work at Penn.

A key point of progress in the battle against the disease was made in 2002, when former Assistant Professor of Medicine David Tuveson established a standard model for examining human development of this disease in mice. This model has allowed for a reliable way to study the disease and has influenced progress made here at Penn and elsewhere since.

Theres been a burst of activity in translational research, from bench to bedside, explains Ben Stanger, the Hanna Wise Professor in cancer research and director of the Penn Pancreatic Research Center (PCRC).

And theres a lot of momentum with community building, a dramatic increase in patient volumes, and a dramatic increase in what we know about the cancer, he says of the status of pancreatic cancer today.

Reiss Binder, meanwhile, explains that one mark of progress at Penn and beyond has been learning about people like Pifani, who have the PALB2 gene, and why they respond differently to treatments than those without it. Platinum-based chemotherapies, for example, are especially effective for people with the PALB2 gene who are battling pancreatic cancer. An ongoing trial at Penn has tested and found some success with using PARP inhibitorstaken orally as an enzyme that fixes single-stranded breaks of DNAas a maintenance therapy in that same PALB2 demographic after theyve had chemotherapy. These are less toxic than chemotherapy for patients with the same mutations.

Its all been slow progress toward better treatments, but there has been progress.

This is the tip of the iceberg for a disease that we historically have treated with perpetual chemotherapy,Reiss Binder says. We owe it to patients to find better options to suppress the cancer but not ruin their quality of life.

The consensus on why pancreatic cancer is so deadly? It just cant be spotted fast enough.

Pancreatic cancer often presents well after it has developed and metastasized, and does so in a way that is not easy to recognize as cancer. Common symptoms include, for example, stomach upset and back pain. And by the time a harder-to-ignore symptom of the cancer surfaces, a sort of yellowing of the skin (a result of a bile duct blockage), its likely too late to stop the cancer in its tracks.

One approach to improved detection being tested at Penn, by Research Assistant Professor of Medicine Erica Carpenter, is a liquid biopsydrawn from a standard blood test. Current means to test for pancreatic cancerimaging through an endoscopic tubeare invasive and expensive, meaning a common liquid test could transform how many cases are detected early.

Carpenter explains that circulating tumor cells (CTCs) can shed from a tumor thats adjacent to the wall of a blood vessel; whats shed then shows up in a blood test. The cells, if detected, can explain more about the nature of the tumor, giving doctors an opportunity to examine characteristics of cancerous cells and decide how to effectively treat a tumor if it cant be surgically removed. It also allows interpretations of disease burden and the effectiveness of medicationsthrough genome sequencingthat imaging does not.

Ultimately, this gives doctors the potential to track the growth of a tumor before its fully developed, all through one tube of blooddetected through an innovative use of technology.

David Issadore, associate professor of bioengineering and electrical and systems engineering in the School of Engineering and Applied Science, has worked since 2017 to develop a chip that detects cancer in the blood, using machine learning to sort through literally hundreds of billions of vesicles and cells, looking for these CTCs. The chip retrieves data and the machine learning developed interprets that data, attempting to make a diagnosis that not only finds pancreatic cancer but also provides information about its progressionand, importantly, whether a patient might benefit from surgery.

Right now, that test has a 24-hour turnaround, he says, but could eventually advance to having a one-hour turnaround. That would be a remarkable mark of progress for discovering the disease earlier when the chip enters a commercial stage.

Pancreatic cancer is a tough disease, and catching it early is hard, Issadore acknowledges. So, we think optimistically but also very cautiously, knowing what a challenging disease its been to make progress on, which is what drew us to the disease in the first place.

Im not an oncologist, he adds, but Im a bioengineer, and people like us who have a different perspective, the hope is we can do something truly [novel] to shift the [state of the disease].

He would eventually like to test the chip in people with other types of cancers, like lung, bladder, and liver.

For now, Penn still uses imaging as the standard of care but Carpenter is confident that blood testing is where were heading, starting with at-risk patients with diabetes and other risk factors.

The most important thing with this would be that when you put a patient on therapy, its good to know as early as possible how likely it is theyre going to respond, she explains. Tumor markers are increasingly valuable because you can avoid toxicity of the therapy, the expense of it, and most importantly you then have the opportunity to put the patient on something that might have more of an effect for them.

The challenge, she adds, is in pancreatic cancer we dont have that many effective therapies.

Another challenge, she adds, is to find the presence of exosomes, small pieces of tumor cells released into the blood stream, which she says are found in abundance among people with pancreatic cancer and could particularly be targeted among people living with diabetes or an intraductal papillary mucinous neoplasm (IPMN). So, at-risk candidates who may not present with the disease currently but are at risk. Several clinical studies and trials are currently taking place at Penn evaluating this.

A related area of interest is determining if people with diabetes, in particular, are developing cancer as part of the diabetes, or developing diabetes from the cancer. Risk factorsdiabetes, genetic markers, etc.continue to be an important area of study with pancreatic cancer.

Immunotherapy is rapidly changing the way patients are treated. And interest in immunotherapy for pancreatic cancer is growing exponentially.

But, its complicated.

We are still learning about the immune system in pancreatic cancer, explains Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the PCRC.

On one hand, we know that inflammation in the pancreas is a driver of pancreatic cancer. But we also know that T cells in the immune system can attack pancreatic cancer, he says.

The challenge that has surfaced is that T cells in patients living with pancreatic cancer are often weakened or slowed down; they dont divide or proliferate very well; and they have a hard time finding the cancer. That makes harnessing them for therapy a challenge. One idea, though, is to engineer ones own T cells (as inCAR T therapy), while theyre still healthy, to detect and kill pancreatic cancer cells.

Penn recently completed a trial in ovarian cancer, mesothelioma, and pancreatic cancer, using CAR T cells engineered to recognize a protein called mesothelin, which is expressed by pancreatic cancer. The team found that the T cells, when injected into the blood of patients, were safe but had limited activity.

These CAR T cells can kill pancreatic cancer in the lab really well. But why they dont do so in patients still remains a mystery, Beatty says.

It does prove that pancreatic cancer evades the immune system extraordinarily well.

Penn investigators have also done work on CD40, a protein expressed in a wide range of immune cells, explains Bob Vonderheide, the John H. Glick Abramson Cancer Center Professor. Patients are responding to treatment with CD40a protein that activates T cells to work more steadfastly and seek out cancer cells.

It seems to make chemo work better, Beatty explains.

This is a very promising treatment for convincing the immune system to attack pancreatic cancer, Beatty adds, And in the lab, we are finding ways to make it work even better.

The larger idea is to build on a backbone of chemo and CD40 in the future to help coax T cells to work better. Overall, a major thrust of treatment for patients at the PCRC is focused on unraveling ways to use immunotherapy while developing the next-generation of strategies for patients with BRCA 1 and 2 genes who are receiving PARP inhibitors.

The stress of a pancreatic cancer diagnosis can be dizzying. It is, says Pancreatic Nurse Navigator Trish Gambino, a cause to act fast.

We really believe pancreas cancer is a medical emergency much like a heart attack, she says. As a nurse navigator, I try to get newly diagnosed patients with pancreatic cancer expeditiously to the correct provider for staging and treatment.

Because of that, she says, patients are often still digesting their diagnosis while also juggling appointments, choosing a doctor, making decisions about care, settling personal matters, and communicating with insurance companies. Gambino, one of eight nurse navigators hired to put organization and compassion on the frontlines, takes multiple incoming callsas many as fiveper day from people who have been diagnosed and sound shell-shocked.

I get so many of these calls per week saying, Trish, I just went to the doctor and they told me I have a pancreatic mass on my CAT scan. And I dont know what to do, she says. A lot of times patients dont know what they need.

Her job is one of compassion but also pragmatism. She listens and places their concerns in context and individualizes her approach to moving patients in the right direction, laying out all the options and giving them a sense of order and control over their narrative.

It really does take a village to try to get people through this, Gambino explains, noting how overwhelming the cancer experience can be. When you have pancreas cancer, its not just the medical oncologist, the radiation oncologist, the surgeon, the dietician, the social worker, the nurse navigator, the infusion nurses, the nurse practitionerstheyre all there and the response is often Who is everybody? They need someone who can lead the team for them.

She says that Penn is especially well-regarded for its interdisciplinary teamseven factoring in diet and financial wellnessand their ability to act swiftly. Penn, for instance, performs more than 150 pancreatic cancer surgeries per year and is practiced at itnot typical of every hospital and a draw for newly diagnosed patients who are eligible for resection.

Looking ahead, Stanger is optimistic about advances in screening and immunotherapy treatmentparticularly research funded by the Parker Institute for Cancer Immunotherapy, started by Sean Parker, a cofounder of Facebook. Penn is one of 10 sites of major investment for research and was the impetus for the investment in pancreatic cancer.

Hes also encouraged that the research community surrounding pancreatic cancer is collaborative, he says, with many doctors recognizing the enormous challenge of the disease and working together well.

Celebrity diagnoses, like that of Alex Trebek, als0lend some hope in the messaging of how the disease is presented to the world today.

I talk to people almost every day, and when we talk about pancreatic cancer they say, Oh, thats a really bad one, he says. One thing I respect about Alex is he came out and was very forthcoming and he spoke with a great deal of confidence and hope in the medical community and gave a positive message that said, Im going to do my best to beat this.

Pifani, meanwhile, more than two years out from his surgery, is feeling optimistic. Hes mostly resumed a normal lifewith occasional side effects that linger, of course, and scans every six months. He runs marathons and spends time with his wife and kids. And, a member of the Survivor Council at the Pancreatic Cancer Action Network and sponsorship chair for the Philadelphia affiliate, he shows up to community events built around raising awareness of the disease and advocating research and caregiver support.

At Penn, he says, he feels like hes in the right place with his carethat hes in the best hands if something does happen, and recognizing the diseases ongoing presence in his life.

I got a long way to go, he says, but were off to a good start.

Homepage photo: Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the Penn Pancreatic Cancer Research Center, examines a blood sample.

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Penn is fighting pancreatic cancer - Penn: Office of University Communications

Dublin, March 10, 2020 (GLOBE NEWSWIRE) -- The "Animal Biotechnology - Technologies, Markets and Companies" report from Jain PharmaBiotech has been added to ResearchAndMarkets.com's offering.

Share of biotechnology-based products and services in 2018 is analyzed and the market is projected to 2028. The text is supplemented with 36 tables and 6 figures. Selected 260 references from the literature are appended.

Approximately 124 companies have been identified to be involved in animal biotechnology and are profiled in the report. These are a mix of animal healthcare companies and biotechnology companies. Top companies in this area are identified and ranked. Information is given about the research activities of 11 veterinary and livestock research institutes. Important 110 collaborations in this area are shown.

The report contains information on the following:

This report describes and evaluates animal biotechnology and its application in veterinary medicine and pharmaceuticals as well as improvement in food production. Knowledge of animal genetics is important in the application of biotechnology to manage genetic disorders and improve animal breeding. Genomics, proteomics and bioinformatics are also being applied to animal biotechnology.

Transgenic technologies are used for improving milk production and the meat in farm animals as well as for creating models of human diseases. Transgenic animals are used for the production of proteins for human medical use. Biotechnology is applied to facilitate xenotransplantation from animals to humans. Genetic engineering is done in farm animals and nuclear transfer technology has become an important and preferred method for cloning animals. There is a discussion of in vitro meat production by culture.

Biotechnology has potential applications in the management of several animal diseases such as foot-and-mouth disease, classical swine fever, avian flu and bovine spongiform encephalopathy. The most important biotechnology-based products consist of vaccines, particularly genetically engineered or DNA vaccines. Gene therapy for diseases of pet animals is a fast developing area because many of the technologies used in clinical trials humans were developed in animals and many of the diseases of cats and dogs are similar to those in humans.RNA interference technology is now being applied for research in veterinary medicine

Molecular diagnosis is assuming an important place in veterinary practice. Polymerase chain reaction and its modifications are considered to be important. Fluorescent in situ hybridization and enzyme-linked immunosorbent assays are also widely used. Newer biochip-based technologies and biosensors are also finding their way in veterinary diagnostics.

Biotechnology products are approved by the Center for Veterinary Medicine of the FDA. Regulatory issues relevant to animal biotechnology are described.

List of Topics Covered

Executive Summary1. Introduction to Animal Biotechnology2. Application of Biotechnology in Animals3. A Biotechnology Perspective of Animals Diseases4. Molecular Diagnostics in Animals5. Biotechnology-based Veterinary Medicine6. Research in Animal Biotechnology7. Animal Biotechnology Markets8. Regulatory Issues9. Companies Involved in Animal Biotechnology10. References

For more information about this report visit https://www.researchandmarkets.com/r/qbm3p5

Research and Markets also offers Custom Research services providing focused, comprehensive and tailored research.

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Global Animal Biotechnology Industry Insights, 2018-2028 Featuring Profiles of ~124 Players and 110 Collaborations - GlobeNewswire

Vident Investment Advisory LLC bought a new stake in Sarepta Therapeutics Inc (NASDAQ:SRPT) in the fourth quarter, according to its most recent 13F filing with the Securities & Exchange Commission. The fund bought 2,197 shares of the biotechnology companys stock, valued at approximately $284,000.

A number of other hedge funds also recently modified their holdings of SRPT. Evolution Wealth Advisors LLC boosted its stake in Sarepta Therapeutics by 1,143.8% in the fourth quarter. Evolution Wealth Advisors LLC now owns 199 shares of the biotechnology companys stock valued at $26,000 after acquiring an additional 183 shares during the period. San Francisco Sentry Investment Group CA acquired a new position in Sarepta Therapeutics in the fourth quarter valued at approximately $34,000. Lighthouse Financial Advisors Inc. acquired a new position in Sarepta Therapeutics in the fourth quarter valued at approximately $42,000. Advisory Services Network LLC boosted its stake in Sarepta Therapeutics by 531.4% in the fourth quarter. Advisory Services Network LLC now owns 322 shares of the biotechnology companys stock valued at $42,000 after acquiring an additional 271 shares during the period. Finally, Tower Research Capital LLC TRC acquired a new position in Sarepta Therapeutics in the third quarter valued at approximately $47,000. Institutional investors own 97.11% of the companys stock.

SRPT has been the subject of a number of research reports. HC Wainwright lifted their target price on Sarepta Therapeutics from $160.00 to $260.00 in a research note on Friday, December 13th. JMP Securities decreased their target price on Sarepta Therapeutics from $280.00 to $217.00 and set an outperform rating for the company in a research note on Thursday, February 27th. Oppenheimer reiterated a hold rating on shares of Sarepta Therapeutics in a research report on Monday, December 30th. Cowen reiterated a buy rating and set a $213.00 price objective on shares of Sarepta Therapeutics in a research report on Tuesday, January 14th. Finally, Royal Bank of Canada reduced their price objective on Sarepta Therapeutics from $215.00 to $200.00 and set an outperform rating for the company in a research report on Monday, December 23rd. Two equities research analysts have rated the stock with a hold rating, twenty-four have issued a buy rating and one has assigned a strong buy rating to the company. The company currently has a consensus rating of Buy and an average target price of $193.95.

SRPT traded down $9.97 during trading on Monday, reaching $107.13. The stock had a trading volume of 42,503 shares, compared to its average volume of 733,097. The firm has a market capitalization of $9.34 billion, a price-to-earnings ratio of -11.21 and a beta of 2.08. The company has a quick ratio of 4.90, a current ratio of 5.55 and a debt-to-equity ratio of 0.89. Sarepta Therapeutics Inc has a 1-year low of $72.05 and a 1-year high of $158.80. The stock has a 50 day moving average of $119.68 and a two-hundred day moving average of $105.71.

Sarepta Therapeutics (NASDAQ:SRPT) last released its earnings results on Wednesday, February 26th. The biotechnology company reported ($3.16) earnings per share for the quarter, missing analysts consensus estimates of ($1.86) by ($1.30). The firm had revenue of $100.11 million during the quarter, compared to analyst estimates of $100.10 million. Sarepta Therapeutics had a negative return on equity of 67.13% and a negative net margin of 187.77%. During the same quarter last year, the company earned ($2.05) earnings per share. On average, research analysts forecast that Sarepta Therapeutics Inc will post -8.22 EPS for the current fiscal year.

Sarepta Therapeutics Company Profile

Sarepta Therapeutics, Inc focuses on the discovery and development of RNA-based therapeutics, gene therapy, and other genetic medicine approaches for the treatment of rare diseases. The company offers EXONDYS 51, a disease-modifying therapy for duchenne muscular dystrophy (DMD). Its products pipeline include Golodirsen, a product candidate that binds to exon 53 of dystrophin pre-mRNA, which results in exclusion or skipping of exon during mRNA processing in patients with genetic mutations; and Casimersen, a product candidate that uses phosphorodiamidate morpholino oligomer (PMO) chemistry and exon-skipping technology to skip exon 45 of the DMD gene.

Further Reading: Balance Sheet

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Vident Investment Advisory LLC Buys Shares of 2,197 Sarepta Therapeutics Inc (NASDAQ:SRPT) - Redmond Register

Scientists have linked a missing gut microbe to ulcerative colitis, opening the door to a possible new treatment.

A team of scientists from Stanford University School of Medicine, California, has identified a gut microbe that is missing in some people. This finding may be key to why some individuals develop ulcerative colitis.

The research appears in the journal Cell Host & Microbe.

The scientists hope that by replacing the function of this missing microbe, it may be possible to develop new and more effective treatments for ulcerative colitis.

The National Institute of Diabetes and Digestive and Kidney Diseases note that ulcerative colitis is a type of inflammatory bowel disease.

It causes inflammation and sores in a persons large intestine, which can result in abdominal pain, weight loss, diarrhea containing pus or blood, and other issues.

The symptoms of ulcerative colitis can range from mild to severe, and there is currently no cure. Instead, treatments focus on keeping the disease in remission for as long as possible.

Treatment usually begins with medications, but if these do not work, surgery may be necessary.

According to the Crohns and Colitis Foundation of America, 2345% of people with ulcerative colitis will eventually need to have surgery.

Surgery involves the complete removal of a persons colon and rectum. The surgeon will then create either a stoma, which acts as an external pouch to collect intestinal contents, or an ileoanal reservoir, which is a J-shaped pouch at the end of the small intestine that does the same job.

Until now, scientists have not been sure why ulcerative colitis affects some people and not others. The new research from the team at Stanford suggests that a key reason may be the lack of particular gut microbes.

Some people who have surgery to create the J-shaped pouch for their ulcerative colitis will then find that inflammation and the associated symptoms return.

Interestingly, people who have the genetic condition familial adenomatous polyposis (FAP), which also requires the creation of a J-shaped pouch, never experience any inflammatory symptoms.

The researchers wanted to work out why this was the case. To do so, they compared two groups of participants, one with FAP and the other with ulcerative colitis, looking for any significant differences between them.

They found that a key difference was the presence of a type of bile acid in the intestines, which was in far greater quantities in those with FAP than in those with ulcerative colitis.

These bile acids are a natural part of a healthy gut and help break down fats.

In the intestines, bacteria convert these bile acids to secondary bile acids.

The scientists were able to identify a specific bacterial family called Ruminococcaceae that was underrepresented in those with ulcerative colitis.

Ruminococcaceae bacteria are the main type of microbe that converts primary bile acids into secondary bile acids.

As Dr. Aida Habtezion, an associate professor and senior author of the study, notes: All healthy people have Ruminococcaceae in their intestines. But in the [ulcerative colitis] pouch patients, members of this family were significantly depleted.

Helping to confirm their findings, the investigators found that stool samples from the participants with FAP turned primary bile acids into secondary bile acids, whereas samples from those with ulcerative colitis did not.

The team then gave acid supplements to mice who had ulcerative colitis to replace any missing secondary bile acids. This reduced inflammation as well as the normal symptoms of colitis in mice.

This study helps us to better understand the disease, says Dr. Habtezion.

We hope it also leads to our being able to treat it with a naturally produced metabolite thats already present in high amounts in a healthy gut.

Dr. Aida Habtezion

To get to this point, the team is now conducting a clinical trial to discover whether an acid supplement can help people with ulcerative colitis.

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Gut microbes could be key to treating ulcerative colitis - Medical News Today

What would the implications be if decoding your genes cost less than a pair of designer jeans? We might soon find out after a Chinese company claimed it can sequence the human genome for $100.

The speed at which the price of genetic sequencing has fallen has been astonishing, from $50,000 a decade ago to roughly $600 today. For a long time, the industry saw the $1,000 genome as the inflection point at which we would enter the genomic agewhere getting a read out of your DNA would be within reach for huge swathes of the population.

That milestone has come and gone, but progress hasnt stopped. And now Chinese firm BGI says it has created a system that can sequence a full genome for just $100. If the claims hold up, thats a roughly six times improvement over state-of-the-art technology.

The key to the breakthrough is a significant increase in the size of the chip that is used to analyze genetic data, so twice as many genomes can be processed at once. Their machine also uses a robotic arm to dunk the chip into baths of the chemicals used to carry out the sequencing process, which allows them to be reused multiple times.

The company says the system, which will be made available to customers late this year, is aimed at large-scale genomics projects and could make it possible to decode the DNA of 100,000 people a year.

The breakthrough could spur further price falls as well, by breaking the stranglehold that industry leader Illumina has had on the market. Dennis Grishin, co-founder of startup Nebula Genomics, told MIT Tech Review that he believed the reason the price of genetic sequencing had remained stuck around $1,000 in recent years was due to Illuminas near monopoly.

A $100 genome could significantly broaden the scope of what we can do with genetic data. The growing field of population genetics promises to uncover the genetic quirks that set different groups of people apart, which can prove vital for developing new medicines and understanding the susceptibility of different groups to certain conditions.

While some ambitious projects, such as the UKs biobank project aimed at collating genetic data on 500,000 people, are already underway, the cost of sequencing has so far limited the scope of these projects. A dramatically cheaper system could see these kinds of initiatives become far more commonplace, greatly expanding our understanding of genetic diversity among humans.

By bringing the cost of full genome sequencing within reach of everyday people, the approach could also dramatically expand the scope of personalized medicine. While services like 23andMe have seen a huge expansion in consumer genetic testing, these services only decode a small fraction of the genome that isnt particularly useful for medical purposes.

DNA sequencing is already used to tailor cancer treatment by determining how peoples genetics are likely to influence their response to certain treatments, but it is still far from standard practice. At $100 the practice could become far more common and also be expanded to predict responses to a host of other treatments, ushering in a new era of personalized medicine.

Theres also hope that it would enable new tests that could provide early warning of susceptibility to a host of genetic diseases, or even sequence the DNA of patients microbiomes to detect imbalances in their gut flora that might be responsible for certain conditions or impact their responses to certain treatments.

Rade Drmanac, chief scientific officer of Complete Genomics, a division of BGI, told MIT Tech Review that at $100 it could soon be common to sequence the DNA of every child at birth. This could provide unprecedented early-warning for a host of diseases, but would also open up a Pandoras box of ethical concerns.

The movie Gattaca already explored the potential for discrimination when genetic testing becomes trivially easy, particularly when paired with increasingly powerful genetic engineering that is bringing the potential for designer babies ever closer.

Perhaps more importantly though, our understanding of how our genetics impact our lives is still very hazy. While we have identified some genes that strongly influence propensity for certain diseases, most human characteristics are governed by complex interactions between multiple genes whose activity can vary throughout our lives in response to environmental pressures.

Our ability to read our DNA is far ahead of our ability to understand it, which could lead to all sorts of problemsfrom creating a new class of worried well flagged as at risk of certain conditions that never come to be, to unnecessarily medicalizing or stigmatizing patients in ways that alter the trajectories of their lives.

With a $100 genome now within reach, we will have to tackle these issues with urgency to make sure the genomic age is one to look forward to rather than one to fear.

Image Credit: Pete Linforth from Pixabay

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$100 Genome Sequencing Will Yield a Treasure Trove of Genetic Dataand Maybe a Dystopian Nightmare - Singularity Hub

Testing for the novel coronavirus in the Seattle area will get a huge boost in the coming weeks as a project funded by Bill Gates and his foundation begins offering home-testing kits that will allow people who fear they may be infected to swab their noses and send the samples back for analysis.

Results, which should be available in one to two days, will be shared with local health officials who will notify those who test positive. Via online forms, infected people can answer questions about their movements and contacts, making it easier for health officials to locate others who may need to be tested or quarantined, as well as to track the virus spread and identify possible hot spots.

Initially, the lab will be able to conduct about 400 tests a day, eventually expanding to thousands of tests a day, said Scott Dowell, leader of coronavirus response at the Bill & Melinda Gates Foundation. The project is ramping up as quickly as possible, but its not clear exactly when it will launch, he added. Among other things, software needs to be upgraded to handle the expected crush of requests, and a detailed questionnaire finalized for people who request tests.

Although theres a lot to be worked out, this has enormous potential to turn the tide of the epidemic, Dowell said.

While Public Health Seattle & King County has confirmed 71 cases and 15 deaths as of Saturday, modeling by Trevor Bedford, a computational biologist at Fred Hutchinson Cancer Research Center, suggests the actual number of infections in the Seattle area is between 500 and 600. Unchecked, that is projected to increase to 30,000 by the end of March underscoring the importance of slowing the spread as quickly as possible, Dowell said.

The new effort aims to leverage the formidable resources and expertise of the Gates Foundation, known for fighting disease and epidemics around the globe, to assist local health agencies struggling to keep up with a fast-moving outbreak. The Seattle area has emerged as an epicenter of the new disease, with far more cases and deaths than any other U.S. city.

One of the most important things from our perspective, having watched and worked on this in other parts of the world, is the identification of people who are positive for the virus, so they can be safely isolated and cared for, and the identification of their contacts, who can then be quarantined, Dowell said.

But testing has been limited until now, leaving many people frustrated and frightened. Last week, a laboratory at UW Medicine got approval to begin processing specimens collected by physicians and other health care providers. The Gates-funded project will reduce the need for sick people to visit a doctors office or clinic, lowering the chance of exposing others.

The initiative grew out of the Seattle Flu Study, a 2-year-old research project based at the University of Washington to track the spread of infectious diseases like influenza. Funded with $20 million from Bill Gates private office, the project recruited thousands of volunteers and sent them self-test kits. The focus has now shifted entirely to the new coronavirus, using similar methods to aid the public-health response.

When the expanded testing system is up and running, people in the Seattle area who think they might be infected with SARS-CoV-2, the scientific name for the new coronavirus, can fill out a questionnaire online. If their symptoms are consistent, they can request a test kit, which will be delivered to their home within two hours. The swabs will be collected and delivered to the UW lab.

The Gates Foundation recently announced its committing $5 million for coronavirus response in the Seattle area, and much of that will go for the expanded testing and analysis. While the initial focus will be on the Seattle area, the plan is to eventually expand statewide, Dowell said.

Outside of King County, one person has died and more than 30 infections have been confirmed as of Saturday.

A major goal of the project is to collect as much information as possible online, which will ease the burden on health officials who are stretched thin and hard-pressed to investigate every new case. Local resources have been focused on Life Care Center, the Kirkland nursing home that accounts for the majority of deaths.

They simply dont have enough epidemiologists to do the shoe-leather epidemiology, the house-to-house case identification, Dowell said.

The Seattle Flu Study already has contributed greatly to the understanding of COVID-19, the respiratory disease caused by the new coronavirus. As the outbreak started in China, the scientific team, co-led by Dr. Helen Chu, an infectious-disease specialist at UW Medicine, quickly developed a genetic test for the virus, similar to one they used for flu.

A physician who knew about the work sent in a sample from a teenage patient suspected of having the disease, and the lab was able to identify what was only the second case in the state at that time.

The flu-project scientists also did the first genetic analyses of new coronavirus cases in Washington, and will continue that work. Bedford, the computational biologist, used those first genomes to analyze changes in the virus over time and concluded that it had probably started circulating in the state earlierthan anyone realized.

The Seattle Flu Study has also already been collecting nasal swabs from volunteers for a research study on the new coronavirus. People can still sign up for that study, but they cannot get their individual results yet.

The Seattle Flu Study is led by the Brotman Baty Institute in collaboration with UW Medicine, Fred Hutch and Seattle Childrens hospital.

The Gates Foundation has also committed $100 million to the global coronavirus response, with an emphasis on vaccine and drug development and improved testing, treatment and control in vulnerable parts of Africa and South Asia.

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Gates-funded program will soon offer home-testing kits for new coronavirus - Seattle Times

U.S. government officials say a million promised tests for diagnosing coronavirus infections will soon be in the mail. But that still leaves many state and local laboratories without the ability to test for the virus, crucial for curbing its spread around the country.

Some states have developed their owntests. Clinical testing companies are now joining the ranks. LabCorpannounced March 5 that physicians or other authorized health careproviders could already order its test. QuestDiagnostics announced the same day that the company will also offercommercial tests as soon as March 9, pending U.S. Food and Drug Administrationreviews. Participation of those two commercial laboratories could greatlyexpand testing capacity in the United States.

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But for now, we still find ourselves asa country with pretty limited capacity to test, says Michael Mina, anepidemiologist at the Harvard T.H. Chan School of Public Health in Boston.

Heres what you need to know aboutcoronavirus testing in the country.

As of March 6, at least 45 states arenow doing testing for SARS-CoV-2, the virus that causes the disease. Wyoming,Oklahoma, Ohio, West Virginia and Maine as well as Guam, Puerto Rico and theVirgin Islands are listed as in progress of having labs certified to dotesting, according to the U.S. Centers for Disease Control and Prevention. Evenstates that have tests may have only a single kit, containing enough materialto test just 700 people, Mina says.

As of March 5, 1,583 people had beentested at CDC. That figure doesnt include tests now going on in many state orcommercial laboratories, which began this week. Contrast that with the UnitedKingdom, where 20,388 people have been tested as of March 6. Only 163 cases ofCOVID-19 have been detected there. Switzerland, which had 181 cases and onedeath as of March 6, has tested more than 3,500 people.

In the United States, more than 250people in at least 23 states had confirmed cases of the coronavirus diseaseknown as COVID-19, and 14 had died, as of March 6. More cases can be expectedas testing ramps up, experts say.

As more cases are found, healthofficials will need to test contacts of people who carry the virus, and otherill people in affected communities may demand tests, all escalating the needfor more tests.

Vice President Mike Pence told reporters March 5, We dont have enough tests today to meet what we anticipate will be the demand going forward, according to CNN. But having companies tests in the mix could help testing ramp up relatively quickly.

To get a more complete picture of howwidespread the virus is in the United States, were going to needmillions and millions and millions of tests, said Anthony Fauci, directorof the National Institute of Allergy and Infectious Diseases in Bethesda, Md.,during a CNN town hall on March 5.

Health professionals will swab apersons nose or throat, collect phlegm coughed up from the lungs, or squirtliquid into the nose, throat or lungs and collect the liquid again for testing.Neither Quest nor LabCorp will collect such specimens, but doctors or otherhealth providers may send samples to the labs for testing.

Then, those samples are analyzed in a laboratory, where technicians must extract and purify the viruss genetic material from the mucus, cell debris and other stuff in the samples.That sample preparation process is usually the biggest bottleneck [in testing], says Brent C. Satterfield, founder and chief scientific officer of Co-Diagnostics, a company based in Salt Lake City and Gujarat, India, that has developed its own coronavirus test. That test can be used clinically in Europe, but has not yet been approved for use in the United States, although other labs can use components of the companys test to build their own diagnostic tests.

All of the coronavirus tests being usedby public health agencies and private labs around the world start with atechnique called polymerase chain reaction, or PCR, which can detect tinyamounts of a viruss genetic material. SARS-CoV-2, the virus that causesCOVID-19, has RNA as its genetic material. That RNA must first be copied intoDNA. Thats a lengthy part of the process, too, says Satterfield, adding 15to 30 minutes to the test.

After that, the PCR can begin. Theprocess makes millions to billions of copies of selected segments of DNA. Inthe case of the coronavirus, the CDCs original test scanned for three of theviruss genes, but now tests for two. The World Health Organizations test,developed by infectious disease researcher Christian Drosten at the Charit UniversittsmedizinBerlin and colleagues, tests for three genes but is a bit different than theCDC tests. The PCR step typically takes 45 minutes to an hour, Satterfieldsays.

Some assays give instant yes or noreadings, but others may also take time to analyze. All together, it may takeabout three hours to complete a test, Satterfield estimates.

PCR tests are not simple enough to do ina doctors office.

In the United States, a doctor is nowallowed to decide if a test is warranted and collect the sample, but then mustship the sample off for other trained professionals to prepare and test.

Testing was initially limited to onlythose people with symptoms and a travel history to an affected area or contactwith a known case. On March 4, the CDCrelaxed some restrictions on who can get tested. People still haveto be sufficiently sick and have failed a flu test in order to qualify forcoronavirus testing, Mina says.

In some states, the positive test results arecalled presumptive positives until the CDC can confirm them. In those cases,the final official result may take days. LabCorp estimates that it will takethree to four days to return results to physicians.

Many doctors offices can do a rapid influenzatest. But those flu tests dont use PCR, Satterfield says. Instead, they detectproteins on the surface of the influenza virus. While the test is quick andcheap, its also not nearly as sensitive as PCR in picking up infections,especially early on before the virus has a chance to replicate, he says. By theCDCs estimates, rapid influenza tests may miss 50 percent to 70 percent ofcases that PCR can detect. The low sensitivity can lead to many false negativetest results.

Flu tests also arent as specific for aparticular virus strain as PCR is. About 5 percent to 10 percent of the time,flu tests may mistake a different virus for the flu, creating a false positiveresult. Specificity is a big deal when youre testing large numbers of peoplewho arent expected to be positive, Satterfield says. If youre going to testin one of the states that doesnt have a coronavirus outbreak right now, with aspecificity of 90 percent, 10 out of every 100 people are going to show uppositive even though the coronavirus isnt there yet.

Accurate diagnosis is a very highimperative for this [coronavirus], Satterfield says.

An additional benefit of a PCR test isthat it may be able to detect viruses earlier in an infection than a flu-style testcan, he says, perhaps not in the first day, but a couple of days into aninfection when the virus is replicating strongly, but the bodys immune systemhasnt yet begun to fight and produce symptoms. In every infectious disease Iknow of, that is the most contagious period for a person; the point in timewhen the virus has multiplied to its maximum capacity and the body has not yetstarted to rein in on it, Satterfield says. Being able to identify people inthat period and isolate them from others could help curb the spread of thedisease.

Delays started with a manufacturing flawin the CDCs original PCR test, which caused components that detect one of the threetargeted viral genes to not work properly, the health agency says.

Those woes sound like user error to Co-DiagnosticsSatterfield. A lot of what they are seeing is probably due to inconsistent usein the field, he says. Tests that work phenomenally well in the lab, whenthey are sent to the field, sometimes just dont work the same, he says.

Co-Diagnostics test also uses PCR buttests for only one gene versus three. Sometimes the more complexity you havein a test, the more things you have that can go wrong, Satterfield says.

Some delays in getting testing off theground came from emergency measures enacted by the FDA, Satterfield says. Normally,big medical testing labs, such as state health labs and companies like LabCorpand Quest Diagnostics, are allowed to develop and validate their own tests. Butwhen the coronavirus was declareda public health emergency on January 31, labs needed emergencyuse authorization before using their tests to diagnose cases. Eventhe CDC had to get permission to use its test. But on February 29, FDAannounced that labs could devise their own tests and use them clinically whilewaiting for the agency to review their applications. FDA does not intend toobject to the use of these tests for clinical testing while the laboratoriesare pursuing an EUA, the agency saidin a statement.

It looks like there were some prettylarge blunders that led to some serious delays, says Mina, the epidemiologistat Harvard. Instead of reducing the amount of testing at the start of anepidemic we should have been expanding it as quickly as possible and callingfor all hands on deck, he says.

Those delays and the initial limitationson who could be tested may have allowed some cases to slip through the cracksand start community outbreaks in Washington and California.

It will vary from place to place. If you have symptoms of COVID-19 fever, dry cough and often fatigue contact your doctor or local or state health department for more information. Do not go to the emergency room for testing, officials say.

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What you need to know about coronavirus testing in the U.S. - Science News

By Express News Service

Assisted reproductive technology (ART) is a rapidly advancing field. Most of the women seeking help regarding infertility issues are aware of the several treatment options available. How can we improve the success in ART?

Several new methods have been introduced to enhance the success rates. Reproductive ability of women decreases as their age advances. This is mainly due to decrease in oocyte quality and quantity. As the quality of oocytes decreases, rate of abnormal chromosomal patterns will increase. Mitochondria plays an important role in egg maturation process. Mitochondrial injection from donor eggs can be injected or those from own precursor cells of the eggs can be injected. This can improve the embryo development.

Egg quality can be improved by adding oral medication to the injectables and also giving double trigger for egg maturation helps at times. For few patients, whose response to medication is not satisfactory (termed poor responders), starting treatment with DHEA (dehydroepiandrosterone) or testosterone gel prior to the in vitro fertilisation (IVF) programme can improve success. Time lapse imaging of embryo enables evaluation of early embryo development, so selection of good embryos can be performed for replacement.

Pre implantation genetic screening to select embryos with high chance of implanting and also to reduce the risk for chromosomal problems. Next comes the lining of the womb. We can look at endometrial wave pattern and implant the embryos. Injecting granulocyte stimulating factor or platelet rich plasma prior to implanting the embryos can help at times. Endometrial Receptivity Analysis (ERA), is a genetic testing method in which we take a small sample of a womans endometrial lining to determine which day would be the best day to transfer the embryos during IVF cycle. It is extremely useful in people who had two or more unsuccessful IVF cycles. The sample taken will be analyzed to assess endometrial receptivity and the optimal day for the transfer.

Ultimately when you are being prepared for IVF programme, quit smoking and alcohol, take prenatal vitamins and get vaccinated against rubella and chicken pox if not already immune. Healthy eating is mandatory. Avoid red meat, refined sugar and processed food. Moderate exercise is acceptable and low impact exercises will really help. Reduce your stress levels and improve your sleep. It is a tedious journey. Yes but, motherhood is every womans right.

Dr Sumana Manohar, MB, FRCOG (LON)Senior Consultant - Obstetrics and Gynaecology Sub-Specialty- Reproductive Medicine, Endoscopy and High Risk Obstetrics Apollo Womens Hospitals Shafee Mohammed Road Thousand Lights, Chennai 6

ERA Endometrial Receptivity Analysis (ERA), is a genetic testing method in which a small sample of a womans endometrial lining is taken to determine which day would be the best to transfer the embryos

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How to succeed through assisted reproduction? - The New Indian Express

From left, College of Medicine graduate student Jamie Johnston, College of Medicine Associate Professor Jose Pinto, College of Medicine graduate student Maicon Landim-Vieira and Department of Biological Science Professor P. Bryant Chase.Photo courtesy of P. Bryant Chase.

Florida State University researchers working in an international collaboration have identified new genetic variants that cause heart disease in infants, and their research has led to novel insights into the role of a protein that affects how the heart pumps blood. It is a discovery that could lead to new treatments for people suffering from heart disease.

In two separate papers, Jose Pinto, an associate professor in the College of Medicine, and P. Bryant Chase, a professor in the Department of Biological Science, worked with doctoral students Jamie Johnston and Maicon Landim-Vieira to explore a disease that caused the heart to pump with too little force. Their work was published in the Journal of Biological Chemistry and in Frontiers in Physiology.

The researchers discovered new interactions within parts of a protein called troponin. Troponin has three parts troponin C, troponin I and troponin T that work together to regulate the hearts pumping of blood. The FSU researchers uncovered interactions of troponin C with portions of troponin T that can decrease the force of the heartbeat, something scientists had not previously noticed.

All of these proteins, they work like an orchestra, Pinto said. What is the main thing for an orchestra? To be in harmony, in balance. You need to have a good balance and you need to be in harmony, otherwise you will not produce good music. If one of these proteins is not in sync with the other proteins, you will not have your orchestra in harmony or balanced well, and then that will lead to the disease.

Most previous work had focused on interactions between troponin C and troponin I, or between troponin T and another protein called tropomyosin. The new interaction between troponin C and troponin T is an interaction that will modulate how much force the heart generates in each heartbeat, Pinto said. If you increase the number of these interactions, most likely you decrease contraction of the heart, and if you prevent these interactions, very likely you increase the force of contraction in each heartbeat.

But science sometimes leads to more questions than answers. A related study by the same FSU researchers reported a new combination of genetic variants in a different part of troponin C that also caused heart disease in infants. Rather than uncovering new interactions among the parts of troponin, this study led researchers to conclude that there must be an unknown role for troponin, possibly in the cell nucleus, Chase said.

In that research, DNA sequencing showed that a mother and a father had different variants that both affected the troponin C protein. Although their cell function was altered in such a way that researchers expected them to have heart problems, they did not show signs of heart disease. Their children, however, had both variants, and though their cell functioning appeared to be more normal, they developed deadly heart disease.

Some experiments provide a lot of immediate insight, but other times we find out that we just dont understand everything that we think we do, Chase said. As much as weve learned, as much as we do understand, theres a lot more thats unknown. And its those times that can eventually lead to brand new, unexpected insights.

Understanding the interactions between the parts of the troponin protein and also troponins various roles in heart cells will help guide new treatments for heart disease, both for the disease caused by the specific genetic variants the researchers discovered and for heart disease in general.

These diseases are caused by seemingly small changes in the DNA, Chase said. There are genetic technologies to reverse that, to introduce the common DNA sequence, but applications of genetic technologies to human disease are in their infancy and theres not a surefire and ethical way to apply changes in the genome to all the heart patients who could benefit from it. Im sure there will be ways to correct genetic variants for a number of diseases, but the medical community is only just beginning to find out how to do that safely for people.

Researchers from the FSU Translational Science Laboratory, Federal University of Rio de Janeiro, Federal University of Minas Gerais, Tel Aviv Sourasky Medical Center, Tel Aviv University and Yale University contributed to this work. The research was supported by the American Heart Association and the National Institutes of Health.

Originally posted here:
FSU researchers help discover new genetic variants that cause heart disease in infants - Florida State News

"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus. Jonathan Hamilton/NPR hide caption

"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus.

It's been a busy week at the virology lab run by UW Medicine, which includes the University of Washington's medical school and hospitals.

"We've already gone to three shifts," says Dr. Keith Jerome, a professor in the department of laboratory medicine who runs the lab. "People are going to be here basically all the time."

The lab is processing about 100 coronavirus tests a day. But it's prepared to do more than 1,000 a day immediately and could quickly increase that to 4,000, Jerome says.

The demand for tests is rising. Seattle is at the center of a coronavirus outbreak that has already claimed the lives of 10 people in Washington state.

One reason the lab is ready to test lots of people is its state-of-the-art equipment, including twin devices that extract genetic material from specimens.

"That all happens robotically," Jerome says, as he gives me a tour of the lab's testing area. "You can see the arms here moving back and forth. This robot is working on 96 specimens at a time. We have two of them. This is part of the magic of moving so many specimens through this laboratory."

In another area of the lab is a room full of instruments that take bits of genetic material from a virus and make millions of copies. That's critical for detecting an infection, Jerome says.

"Right now this is our limiting factor," he says, adding that they've already asked to borrow more of the instruments from other labs affiliated with the university.

But the lab's readiness also is the result of months of planning.

Jerome and other virologists started the process in January, after hearing reports about the coronavirus outbreak in China.

"Our opinion was, this is probably not going to be a problem, this is probably going to be a waste of our effort and some money, but we owe it to the people of our area to be prepared," he says.

So the scientists developed an assay and began using it test specimens sent in for research purposes.

At first, the tests found no infections, says Dr. Alex Greninger, the lab's assistant director. Then, on Feb. 28, one came back positive.

"That was on Friday at 4 p.m.," he says. "And then Saturday morning the FDA came out with a new regulation that allowed us to perform testing."

The change at the Food and Drug Administration was a new policy that allowed sophisticated labs like the one at UW Medicine to develop and use their own coronavirus tests before the agency had reviewed them.

On Monday and Tuesday, the lab quietly began accepting specimens for clinical use and preparing for high-volume testing.

"It was intense," Greninger says, adding that he and colleagues were working past midnight to make sure the system functioned properly.

But the hard part wasn't the testing itself, Greninger says, but the logistics.

For example, "how many swabs you're going to take from each patient, how you're going to handle sending results and samples to the state public health lab," he says.

Then on Wednesday, Jerome and Greninger held a press conference to announce that the lab was officially open for business.

Now they are expecting an avalanche of specimens. And that's a good thing, Jerome says.

"Access to testing is really the major tool we have right now to fight this new coronavirus," he says

Even with the lab's increased capacity, though, testing remains limited to people who have symptoms including fever and a dry cough.

"My goal is everyone who needs a test can get one," Jerome says. "And that might be different than everyone who wants a test."

Local doctors say the lab will make a huge difference.

"It's a game changer," says Dr. Seth Cohen, medical director for infection prevention at UW Medical Center Northwest. "Previously when we would send those tests to the [Centers for Disease Control and Prevention] in Atlanta it was taking three to five days to get those tests back."

Now results often come back the same day. And that means doctors and hospitals can focus resources on the patients who are truly infected.

Conserving scarce resources will become critical if the coronavirus continues to spread, Cohen says.

"We did not plan on being at the epicenter of one of the outbreaks in the United States," Cohen says. "And we are preparing for the worst."

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Coronavirus Tests: Lab At University Of Washington Was Ready : Shots - Health News - NPR

Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness. KTSDesign/Science Photo Library/Getty Images hide caption

Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness.

For the first time, scientists have used the gene-editing technique CRISPR to try to edit a gene while the DNA is still inside a person's body.

The groundbreaking procedure involved injecting the microscopic gene-editing tool into the eye of a patient blinded by a rare genetic disorder, in hopes of enabling the volunteer to see. They hope to know within weeks whether the approach is working and, if so, to know within two or three months how much vision will be restored.

"We're really excited about this," says Dr. Eric Pierce, a professor of ophthalmology at Harvard Medical School and director of the Inherited Retinal Disorders Service at Massachusetts Eye and Ear. Pierce is leading a study that the procedure launched.

"We're helping open, potentially, an era of gene-editing for therapeutic use that could have impact in many aspects of medicine," Pierce tells NPR.

The CRISPR gene-editing technique has been revolutionizing scientific research by making it much easier to rewrite the genetic code. It's also raising high hopes of curing many diseases.

Before this step, doctors had only used CRISPR to try to treat a small number of patients who have cancer, or the rare blood disorders sickle cell anemia or beta-thalassemia. While some of the initial results have been promising, it's still too soon to know whether the strategy is working.

In those other cases, doctors removed cells from patients' bodies, edited genes in the cells with CRISPR in the lab and then infused the modified cells back into the volunteers' bodies to either attack their cancer or produce a protein their bodies are missing.

In this new experiment, doctors at the Casey Eye Institute in Portland, Ore., injected (into the eye of a patient who is nearly blind from a condition called Leber congenital amaurosis) microscopic droplets carrying a harmless virus that had been engineered to deliver the instructions to manufacture the CRISPR gene-editing machinery.

Beginning in infancy, the rare genetic condition progressively destroys light-sensing cells in the retina that are necessary for vision. Vision impairment with LCA varies widely, but most patients are legally blind and are only able to differentiate between light and dark or perhaps to detect movement.

"The majority of people affected by this disease have the most severe end of the spectrum, in terms of how poor their vision is," Pierce says. "They're functionally blind."

The goal is that once the virus carrying the CRISPR instructions has been infused into the eye, the gene-editing tool will slice out the genetic defect that caused the blindness. That would, the researchers hope, restore production of a crucial protein and prevent the death of cells in the retina, as well as revive other cells enabling patients to regain at least some vision.

"It's the first time the CRISPR gene-editing is used directly in a patient," Pierce says. "We're really optimistic that this has a good chance of being effective."

The study is being sponsored by Editas Medicine, of Cambridge, Mass., and Allergan, based in Dublin. It will eventually involve a total of 18 patients, including some as young as ages 3 to 17, who will receive three different doses.

"We're very excited about this. This is the first time we're doing editing inside the body," says Charles Albright, the chief scientific officer at Editas.

"We believe that the ability to edit inside the body is going to open entire new areas of medicine and lead to a whole new class of therapies for diseases that are not treatable any other way," Albright says.

Francis Collins, director of the National Institutes of Health, calls the advance "a significant moment."

"All of us dream that a time might be coming where we could apply this approach for thousands of diseases," Collins tells NPR. "This is the first time that's being tried in a human being. And it gives us hope that we could extend that to lots of other diseases if it works and if it's safe."

Pierce, Albright and others stressed that only one patient has been treated so far and that the study, still at a very early stage, is designed primarily to determine whether injecting the gene-editing tool directly into the eye is safe.

To that end, the researchers are starting with lowest dose and the oldest patients, who have already suffered extensive damage to their vision. And doctors are only treating one eye in each patient. All of those steps are being taken in case the treatment somehow backfires, causing more damage instead of being helpful.

"CRISPR has never been used directly inside a patient before," Pierce says. "We want to make sure we're doing it right."

Still, he says, if the underlying defect can be repaired in this patient and others with advanced damage, "we have the potential to restore vision to people who never had normal vision before. It would indeed be amazing."

The study involves a form of Leber congenital amaurosis known as Type 10, which is caused by a defect in the CEP290 gene.

If the approach appears to be safe and effective, the researchers will start treating younger patients.

"We believe children have the potential to have the most benefit from their therapy, because we know their visual pathways are still intact," Albright explains.

The procedure, which takes about an hour to perform, involves making tiny incisions that enable access to the back of the eye. That allows a surgeon to inject three droplets of fluid containing billions of copies of the virus that has been engineered to carry the CRISPR gene-editing instructions under the retina.

The idea is that once there, the CRISPR editing elements would snip out the mutation that causes a defect in CEP290. The hope is that this would be a one-time treatment that would correct vision for a lifetime.

If it works, the volunteers in the study might be able to have the procedure repeated on the other eye later.

"If we can do this safely, that opens the possibility to treat many other diseases where it's not possible to remove the cells from the body and do the treatment outside," Pierce says.

The list of such conditions might include some brain disorders, such Huntington's disease and inherited forms of dementia, as well as muscle diseases, such as muscular dystrophy and myotonic dystrophy, according to Pierce and Albright.

"Inherited retinal diseases are a good choice in terms of gene-based therapies," says Artur Cideciyan, a professor of ophthalmology at the University of Pennsylvania, given that the retina is easily accessible.

But Cideciyan cautions that other approaches for these conditions are also showing promise, and it remains unclear which will turn out to be the best.

"The gene-editing approach is hypothesized to be a 'forever fix,' " he says. "However, that's not known. And the data will have to be evaluated to see the durability of that. We'll have to see what happens."

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CRISPR Used To Edit Genes Inside A Patient With A Rare Form Of Blindness : Shots - Health News - NPR

The Mercer Island School District will present its fifth annual Pathfinder Awards to Robin Bennett and Steve Hawes.

The Pathfinder Award is the districts highest alumni honor, presented to graduates of Mercer Island High School (MIHS) whose achievements, strength of character, and citizenship inspire and challenge todays youth to make significant contributions to humankind.

Bennett, Class of 1977

Inspired by her MIHS biology teacher Bill Tougaw, Bennett graduated from Kenyon College and was among the first graduates from the genetic counseling training program at Sarah Lawrence College.

She began her career at the University of Washington Medical Center as its first certified genetic counselor, where she continues to work 35 years later as senior genetic counselor and manager of the Genetic Medicine Clinic. The clinic has grown into one of the leading clinics in the country for adult and cancer genetics services.

Bennett is a leader in developing genetic counseling practice recommendations, including the criterion for a genetic family history that are now the world standard. Her book, The Practical Guide to the Genetic Family History (2nd edition) is used to train students around the world (the book is dedicated to Bill Tougaw).

She is a national and international leader in the field of genetic counseling and beyond, having served as president of the National Society of Genetic Counselors and on the board of directors of the major national and international societies in human genetics and genetic counseling. She is the first genetic counselor to receive a faculty title in the UW School of Medicine where she now is a clinical professor. She has mentored many students who are interested in genetic counseling. Bennett is the acting director of the new Masters in Genetic Counseling Program being developed in the University of Washington School of Medicine.

Hawes, Class of 1968

Nearly 52 years after he graduated, Steve Hawes name remains etched throughout the record book of the MIHS boys basketball program.

The MIHS records include most points in a game (49), most rebounds in a game (40), career rebounds, rebounds in a season and rebounds per game. He averaged 28 points per game and 20 rebounds per game in his senior season, 1967-68, which was also the first year for hall of fame coach Ed Pepple.

Hawes went on to star for four years at the University of Washington, averaging 20 points and 13 rebounds a game over his career and was later inducted into the Husky Hall of Fame and the Pacific-10 Conference Hall of Honor. Hawes was selected in the second round of the 1972 NBA draft, but chose first to play overseas in Italy. He began his NBA career in 1974 with the Houston Rockets, then played one season with Portland and seven with Atlanta before finishing his career with the hometown Seattle SuperSonics in 1983 and 1984. He returned to Italy for one final season before retiring as a player.

Hawes came home again to Seattle, serving as an assistant coach at Seattle Pacific, Seattle University and UW. He started coaching high school basketball while operating Advent Print Resources, which he sold in 2013 after 20 years. He is now in his third stint as the boys basketball coach at The Bush School.

Event

The newest Pathfinders will be honored at the Mercer Island Schools Foundations Breakfast of Champions on April 28. Register to attend the breakfast online at mercerislandschoolsfoundation.com.

A permanent Pathfinder Awards wall has been created at Mercer Island High School alongside previously recognized distinguished graduates. Seventeen (17) alumni have now been recognized since the awards began in 2016.

The recipients were selected from dozens of nominations submitted by the community at large and chosen by a selection committee comprised of staff, students, administrators, community members and alumni from the district and the Mercer Island Schools Foundation.

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Mercer Island high grads to be honored Bennett and Hawes - Mercer Island Reporter

March 04, 2020 -Massachusetts General Hospital (MGH) is launching a new Preventive Genomics Clinic that will help advance precision medicine and preventive care by leveraging genetic information.

The new clinic will be integrated with the primary care practices at MGH, and will aim to help patients better understand, prevent, and predict disease. MGH chose to establish the genomics clinic after receiving requests from providers and patients for greater use of genetics in clinical care.

We believe DNA testing will be a key piece of routine care in the future, said Amit V. Khera, MD, an MGH cardiologist and co-founder of the new clinic. But, in many cases, our PCPs were unsure which of the available genetic tests were most appropriate for their patients or how best to integrate that information into an individualized screening or treatment plan. Thats why it was so important for us to root ourselves within primary care from the start.

Common reasons for referral to the clinic include requests for interpretation of an existing genetic test result, concern about family history of disease, or an interest in learning about the risks and benefits of testing while still asymptomatic.

Patients meet with a genetic counselor and physician to gather personal and family history information. If patients do decide to proceed with genetic testing, the team reviews testing options, works with the patients health insurance to determine whether it would be covered, and coordinates with the patients care team to make a plan based on test results.

READ MORE: FDA Approvals Advance Precision Medicine, Genomics Treatments

What has been surprising is the majority of the tests weve ordered have been fully covered by medical insurance based on family history or other indications, said Renee Pelletier, lead genetic counselor of the new program. This speaks to the underutilization of appropriate genetic testing for our patients.

For patients who are truly asymptomatic and have no family history of disease, the clinic offers preventive genomics assessments that typically arent covered by insurance. This could include testing for the BRCA1 mutations, which signal very high risk for breast and ovarian cancer, as well as mutations that can lead to high cholesterol levels and risk for early heart attack. In both of these cases, treatment options exist that can help patients overcome these genetic risks.

The team has also launched an eConsult program, which allows any physician to request a review of his or her patients medical record by the Preventive Genomics Clinic. Staff at the clinic can then determine whether genetic testing or a clinic appointment would be beneficial for the patient. Additionally, the team can answer questions about ordering new genetic testing or interpreting prior genetic testing results.

In many cases, we are able to answer a key clinical question just based on review of medical records, said Leland Hull, MD, a primary care physician in the group. For others, we recommend they be seen in our clinic or one of the several subspecialty clinics available at MGH for more detailed evaluation.

In the future, the clinic expects to see patients who learn about high genetic risk from ongoing research studies, including the Partners HealthCare Biobank or the NIH All of Us Research Program. Over the next several years, these programs are expected to perform sequencing of more than 100,000 participants in the Boston area.

READ MORE: New Precision Medicine Program to Study Role of Genomics in Disease

As the healthcare industry has increasingly recognized the important role precision medicine and genomics can play in patient health, more organizations are supporting the integration of genetic testing with routine clinical care.

Recently, a group of stakeholders launched the Institute for Gene Therapies (IGT), which will aim to modernize the US regulatory and reimbursement framework to ensure gene therapies for patients who need them.

The incredible scientific advancements in this space present unique opportunities to directly improve and save the lives of patients suffering from debilitating diseases, said IGT Chairman and former Congressman Erik Paulsen.

This is not some far-off future patients are already benefiting from the first FDA-approved gene therapies. But we need policy to move faster toward this new reality where we can treat the causes of many diseases. The Institute for Gene Therapies and our members believe unique regulatory and reimbursement structures need to be established, novel development pathways need to be embraced and new value-based arrangements need to be tested.

With the launch of the Preventive Genomics Clinic, MGH will help further incorporate novel tests and treatments into everyday healthcare delivery.

Its exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients, said Heidi Rehm, PhD, chief genomics officer at MGH. Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.

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New Genomics Clinic Will Enable Preventive Care, Precision Medicine - HealthITAnalytics.com