$10 million DNA sequencing effort aims to shed light on lung diseases – Washington University School of Medicine in St. Louis

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Research is part of national project to understand genetic roots of heart, lung, blood, sleep disorders

A new DNA sequencing project aims to add the genetic data of people from underrepresented groups so that national genomic databases more closely reflect the diversity of the U.S. population.

Washington Universitys McDonnell Genome Institute has received $10 million from the National Heart, Lung and Blood Institute (NHLBI) to sequence the DNA of people from diverse ethnic backgrounds, in an effort to identify the genetic roots of chronic obstructive pulmonary disease (COPD) and other lung disorders.

The research is part of a national project to understand the genetics underlying heart, lung, blood and sleep disorders, including high blood pressure, obesity, sleep apnea, stroke, asthma, COPD, hemophilia, sickle cell disease and pulmonary embolism.

Most other large genome sequencing projects have focused on Europeans and Caucasians, said principal investigator Susan K. Dutcher, PhD, a professor of genetics and the interim director of the McDonnell Genome Institute at Washington University School of Medicine. With this program, we are including many people with other racial and ethnic backgrounds. Increasing the diversity of the groups being sequenced is important in understanding how genetic variations influence disease risk.

The work is part of the NHLBIs TOPMed program, a national initiative to sequence and analyze the complete DNA or whole genomes of patients participating in a number of large U.S.-based clinical trials. The 62,000 participants in the current program are drawn from more than 30 studies, including well-known and long-running studies, such as the Womens Health Initiative and the Framingham Heart Study.

The clinical trials included in the analysis were chosen to help reduce disparities in sequencing efforts, adding the genetic data of people from underrepresented groups so that national genomic databases more closely reflect the diversity of the U.S. population. Half the participants in the current program are of European descent; 30 percent are of African descent; 10 percent are of Hispanic or Latino origin; eight percent are of Asian descent; and about two percent represent indigenous populations, such as Pacific Islanders.

Its also important that the total number of patients in the project is huge, Dutcher said. Early phases of TOPMed have already sequenced the genomes of 85,000 people. This year, for Washington Universitys portion of the project, were sequencing the genomes of about 6,500 patients with lung diseases, primarily COPD and interstitial pulmonary fibrosis, a progressive scarring of lung tissue with variable causes, including autoimmunity.

The goal of such large genomic studies is to understand how differences in DNA contribute to disease risk. Such investigations may identify variations in genes that increase a persons risk of developing a particular disease. Conversely, scientists may find variations that are somehow protective, decreasing the risk of a particular disorder. To make these comparisons, researchers require very large sample sizes so they can analyze DNA sequences in the context of the course of the patients diseases and in comparison with healthy individuals.

In addition to the McDonnell Genome Institute at Washington University, the other genome sequencing centers involved in the program include the Broad Institute of MIT and Harvard, Illumina, Macrogen, the New York Genome Center and Northwest Genomics Center.

Washington University School of Medicines 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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$10 million DNA sequencing effort aims to shed light on lung diseases – Washington University School of Medicine in St. Louis

Men With This Genetic Mutation May Live 10 Years Longer – Vital Updates

Males with a singular genetic mutation are likely to live about 10 years longer than their peers without the change, shows a new study appearing in the journal Science Advances.

Researchers have linked a mutation in the growth hormone receptor (GHR) gene to longer life in a number of populations, ranging from Ashkenazi Jews to Pennsylvania Amish.

Our study provides the first consistent evidence linking the GHR to human longevity, report the study authors from the Albert Einstein College of Medicine in New York City and other institutions.

The authors believe that their findings may support interventions on a genetic level that can impact the human lifespan.

These results may have implications in devising precision medicine strategies, such as GH-related interventional therapies in the elderly, the authors write.

The new findings come as one of the first clear associations between a populations genetic makeup and overall lifespan. Much previous work on population-level DNA has come up empty.

Its been a real disappointment, Nir Barzilai, a geneticist at Albert Einstein College of Medicine who led the current study, told the New York Times.

Yet researchers have begun to take cues from approachable physical evidence, rather than first burrowing deep into the genome to try to find the magical gene thats tied to a longer life.

Related:Running May Increase Life Expectancy

If you look at dogs, flies, mice, whatever it is, smaller lives longer, Gil Atzmon, a geneticist at the University of Haifa in Israel, explained to the New York Times.

That observation has led researchers to investigate growth hormone, a substance created in the brain that is directly tied to human growth and size. At a microscopic level, growth hormone attaches to cell molecules via the growth hormone receptor, and this connection guides the ability of the body to keep or stop growing.

The next step in comparing a persons size to longevity took the researchers on a course through history.

The researchers decided to investigate a specific population Ashkenazi Jews (AJ), whose history gave the researchers something of a clean slate from which to work.

To a large extent, this population exhibits both cultural and genetic homogeneity. For these reasons, the AJ population has been successfully used in the discovery of many disease-associated genes, report the study authors.

Among this population, most of whom were born or migrated to the United States in the years preceding World War II, the link between the GHR gene and longevity held true the genetic mutation was present in about 12 percent of men who were over the age of 100. Among those 70 years old, the rate of the GHR mutation was about three times less.

When observing data from an Amish population in Pennsylvania and a group of notably long-living people in France, the researchers found the same genetic trends the GHR mutation was again linked to longevity.

Although numerous genes have been shown to influence longevity, certain genes appear to affect life span across diverse organisms, conclude the researchers, who believe that plausible therapies are not too far off.

Richard Scott is a health care reporter focusing on health policy and public health. Richard keeps tabs on national health trends from his Philadelphia location and is an active member of the Association of Health Care Journalists.

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Men With This Genetic Mutation May Live 10 Years Longer – Vital Updates

Live from TechCrunch How genetic testing will help people pay for their healthcare – TechNode (blog)

Reducing the price of genetic medicine and DNA testing could dramatically reduce the subsequent cost burden of treatment for patients and their families, making healthcare more affordable for individuals and the government alike, especially as China has particularly serious health risks and an aging population, said CEO of BGI Miracle Light, Liu Liang, at a panel at TechCrunch Shenzhen.

Healthcare provision in China poses many problems to its users. It is often prohibitively expensive, varies hugely in terms of quality between institutions and regions, and trust of the medical profession is at rock bottom. Health insurance is complicated and even those with coverage generally have to pay hospital bills upfront then wait for reimbursement. It is not uncommon for an illness to push an entire extended family into dire financial straits.

Liu Liang, CEO of Miracle Light, the incubator at BGI

The year 2014 was a landmark year for Chinese peoples awareness of their own health. The most encouraging situation for the application of genetic medicine is happening here in China. Coming back to cancer, its our concerted effort and will to beat it, but its not easy. In the last year, 6 million more people developed cancer in China and 2.5 million died of the disease. Its genetic medicine thats going to rid us of this disease, said Liu Liang who was participating in the Biotech, Medtech and Genomics Opportunities panel.

Danny Yeung, CEO of consumer genetics testing company Prenetics, pointed out the benefits of taking a preventative approach to healthcare saying were trying to cover 90% of diseases as 90% of diseases are preventable.

Prenetics CEO Danny Yeung

While genetic testing products have fallen in price as technology has improved and competition intensified, Liu Liang got into how technological advances can bring down the cost of treatment when patients actually become ill, and the costs for the country.

Traditional imaging techniques for tumors do not necessarily find them and tumors can remain latent for 10 to 15 years and by the time any symptoms are detected, the disease is quite far advanced. Once it has been confirmed as cancer, full genome test to identify the markers will cost hundreds of thousands of yuan [tens of thousands of dollars], and if you are fortunate to find a targeted medicine, the cheapest treatment will cost thousands of RMB [hundreds of dollars] a week up to $10,000 in treatments to combat the disease, Liu said.

Thats way beyond an average households ability and we hope that within five years, we can get the cost of whole genome sequencing below $100 [the current rate is now below the $1,000 mark], an amount that many will be able to manage, he said. At the moment we have no effective way to eradicate cancer, but we hope that we can start to bring early stage detection into reach for more people.

Liu also spoke about how the aging of the population, combined with other problems China has such as soil and air pollution and a massive healthcare funding gap, will mean governments local and national will not be able to afford the healthcare costs generated by the populations.

Whole genome sequencing can help as people will know from birth what conditions they are predisposed to and can try to avoid illnesses such as cancer from being triggered. We need to bring forward methods for disease prevention, said Liu. Whether its companies like Lilly [Lilly Ventures, a Chinese healthcare VC] or startups, we need to provide a basis for the sector and cooperate with the rest of the world.

Judith Li, partner at Lilly Asia Venturesmira

This basis for growth in the industry is already taking shape. Outsiders from other industries such real estate and tourism entering this industry and we want to welcome them, announced Liu.

Frank Hersey is a Beijing-based tech reporter who’s been coming to China since 2001. He tries to go beyond the headlines to explain the context and impact of developments in China’s tech sector. Get in touch with him on frankhersey@technode.com

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Live from TechCrunch How genetic testing will help people pay for their healthcare – TechNode (blog)

New Blood Test Opens Door to Precision Medicine for Prostate Cancer – Pharmaceutical Processing

New three-in-one blood test opens door to precision medicine for prostate cancer.

Scientists have developed a three-in-one blood test that could transform treatment of advanced prostate cancer through use of precision drugs designed to target mutations in the BRCA genes.

By testing cancer DNA in the bloodstream, researchers found they could pick out which men with advanced prostate cancer were likely to benefit from treatment with new drugs called PARP inhibitors.

They also used the test to analyze DNA in the blood after treatment had started, so people who were not responding could be identified and switched to alternative therapy in as little as four to eight weeks.

And finally, they used the test to monitor a patient’s blood throughout treatment, quickly picking up signs that the cancer was evolving genetically and might be becoming resistant to the drugs.

The researchers, at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, say their test is the first developed for a precision prostate cancer therapy targeted at specific genetic faults within tumors.

It could in future allow the PARP inhibitor olaparib to become a standard treatment for advanced prostate cancer, by targeting the drug at the men most likely to benefit, picking up early signs that it might not be working, and monitoring for the later development of resistance.

The study is publishedin the journalCancer Discovery. It was funded by the Prostate Cancer Foundation, Prostate Cancer UK, Movember, Cancer Research UK and the National Institute for Health Research (NIHR) via the Experimental Cancer Medicine Centre network, and the NIHR Biomedical Research Centre at The Royal Marsden and The Institute of Cancer Research (ICR).

The test could help to extend or save lives, by targeting treatment more effectively, while also reducing the side-effects of treatment and ensuring patients don’t receive drugs that are unlikely to do them any good.

The new study is also the first to identify which genetic mutations prostate cancers use to resist treatment with olaparib. The test could potentially be adapted to monitor treatment with PARP inhibitors for other cancers.

Researchers at the ICR and The Royal Marsden collected blood samples from 49 men at The Royal Marsden with advanced prostate cancer enrolled in the TOPARP-A phase II clinical trial of olaparib.

Olaparib is good at killing cancer cells that have errors in genes that have a role in repairing damaged DNA such as BRCA1 or BRCA2. Some patients respond to the drug for years, but in other patients, the treatment either fails early, or the cancer evolves resistance.

Looking at the levels of cancer DNA circulating in the blood, the researchers found that patients who responded to the drug had a median drop in the levels of circulating DNA of 49.6 per cent after only eight weeks of treatment, whereas cancer DNA levels rose by a median of 2.1 per cent in patients who did not respond.

Men whose blood levels of DNA had decreased at eight weeks after treatment survived an average of 17 months, compared with only 10.1 months for men whose cancer DNA levels remained high.

The researchers also performed a detailed examination of the genetic changes that occurred in cancer DNA from patients who had stopped responding to olaparib. They found that cancer cells had acquired new genetic changes that canceled out the original errors in DNA repairparticularly in the genes BRCA2 and PALB2that had made the cancer susceptible to olaparib in the first place.

The research puts into action the central aim of the ICR’s and The Royal Marsden’s research strategy, which is to overcome cancer’s adaptability, evolution and drug resistance.

Professor Johann de Bono, Regius Professor of Cancer Research at The Institute of Cancer Research, London, and Consultant Medical Oncologist at The Royal Marsden NHS Foundation Trust, said:”Our study identifies, for the first time, genetic changes that allow prostate cancer cells to become resistant to the precision medicine olaparib.From these findings, we were able to develop a powerful, three-in-one test that could in future be used to help doctors select treatment, check whether it is working and monitor the cancer in the longer term.

“We think it could be used to make clinical decisions about whether a PARP inhibitor is working within as little as four to eight weeks of starting therapy.Not only could the test have a major impact on treatment of prostate cancer, but it could also be adapted to open up the possibility of precision medicine to patients with other types of cancer as well.”

(Source: EurekAlert!)

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New Blood Test Opens Door to Precision Medicine for Prostate Cancer – Pharmaceutical Processing

Thousands of genes influence most diseases – Stanford Medical Center Report

A core assumption in the study of disease-causing genes has been that they are clustered in molecular pathways directly connected to the disease. But work by a group of researchers at the Stanford University School of Medicine suggests otherwise.

The gene activity of cells is so broadly networked that virtually any gene can influence disease, the researchers found. As a result, most of the heritability of diseases is due not to a handful of core genes, but to tiny contributions from vast numbers of peripheral genes that function outside disease pathways.

Any given trait, it seems, is not controlled by a small set of genes. Instead, nearly every gene in the genome influences everything about us. The effects may be tiny, but they add up.

The work is described in a paper published June 15 in Cell. Jonathan Pritchard, PhD, professor of genetics and of biology, is the senior author. Graduate student Evan Boyle and postdoctoral scholar Yang Li, PhD, share lead authorship.

The researchers call their provocative new understanding of disease genes an omnigenic model to indicate that almost any gene can influence diseases and other complex traits. In any cell, there might be 50 to 100 core genes with direct effects on a given trait, as well as easily another 10,000 peripheral genes that are expressed in the same cell with indirect effects on that trait, said Pritchard, who is also a Howard Hughes Medical Institute investigator.

Each of the peripheral genes has a small effect on the trait. But because those thousands of genes outnumber the core genes by orders of magnitude, most of the genetic variation related to diseases and other traits comes from the thousands of peripheral genes. So, ironically, the genes whose impact on disease is most indirect and small end up being responsible for most of the inheritance patterns of the disease.

This is a compellingpaper that presents a plausible and fascinatingmodel to explain a number of confusing observations from genomewide studies of disease, said Joe Pickrell, PhD, an investigator at the New York Genome Center, who was not involved in the work.

Until recently, said Pritchard, he thought of genetically complex traits as conforming to a polygenic model, in which each gene has a direct effect on a trait, whether that trait is something like height or a disease, such as autism.

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Thousands of genes influence most diseases – Stanford Medical Center Report

New three-in-one blood test opens door to precision medicine for prostate cancer – Medical Xpress

June 19, 2017 Micrograph showing prostatic acinar adenocarcinoma (the most common form of prostate cancer) Credit: Wikipedia

Scientists have developed a three-in-one blood test that could transform treatment of advanced prostate cancer through use of precision drugs designed to target mutations in the BRCA genes.

By testing cancer DNA in the bloodstream, researchers found they could pick out which men with advanced prostate cancer were likely to benefit from treatment with exciting new drugs called PARP inhibitors.

They also used the test to analyse DNA in the blood after treatment had started, so people who were not responding could be identified and switched to alternative therapy in as little as four to eight weeks.

And finally, they used the test to monitor a patient’s blood throughout treatment, quickly picking up signs that the cancer was evolving genetically and might be becoming resistant to the drugs.

The researchers, at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, say their test is the first developed for a precision prostate cancer therapy targeted at specific genetic faults within tumours.

It could in future allow the PARP inhibitor olaparib to become a standard treatment for advanced prostate cancer, by targeting the drug at the men most likely to benefit, picking up early signs that it might not be working, and monitoring for the later development of resistance.

The study is published today (Monday) in the prestigious journal Cancer Discovery. It was funded by the Prostate Cancer Foundation, Prostate Cancer UK, Movember, Cancer Research UK and the National Institute for Health Research (NIHR) via the Experimental Cancer Medicine Centre network, and the NIHR Biomedical Research Centre at The Royal Marsden and The Institute of Cancer Research (ICR).

The test could help to extend or save lives, by targeting treatment more effectively, while also reducing the side-effects of treatment and ensuring patients don’t receive drugs that are unlikely to do them any good.

The new study is also the first to identify which genetic mutations prostate cancers use to resist treatment with olaparib. The test could potentially be adapted to monitor treatment with PARP inhibitors for other cancers.

Researchers at the ICR and The Royal Marsden collected blood samples from 49 men at The Royal Marsden with advanced prostate cancer enrolled in the TOPARP-A phase II clinical trial of olaparib.

Olaparib is good at killing cancer cells that have errors in genes that have a role in repairing damaged DNA such as BRCA1 or BRCA2. Some patients respond to the drug for years, but in other patients, the treatment either fails early, or the cancer evolves resistance.

Looking at the levels of cancer DNA circulating in the blood, the researchers found that patients who responded to the drug had a median drop in the levels of circulating DNA of 49.6 per cent after only eight weeks of treatment, whereas cancer DNA levels rose by a median of 2.1 per cent in patients who did not respond.

Men whose blood levels of DNA had decreased at eight weeks after treatment survived an average of 17 months, compared with only 10.1 months for men whose cancer DNA levels remained high.

The researchers also performed a detailed examination of the genetic changes that occurred in cancer DNA from patients who had stopped responding to olaparib. They found that cancer cells had acquired new genetic changes that cancelled out the original errors in DNA repair – particularly in the genes BRCA2 and PALB2 – that had made the cancer susceptible to olaparib in the first place.

The research puts into action the central aim of the ICR’s and The Royal Marsden’s research strategy, which is to overcome cancer’s adaptability, evolution and drug resistance.

Professor Johann de Bono, Regius Professor of Cancer Research at The Institute of Cancer Research, London, and Consultant Medical Oncologist at The Royal Marsden NHS Foundation Trust, said:

“Our study identifies, for the first time, genetic changes that allow prostate cancer cells to become resistant to the precision medicine olaparib.

“From these findings, we were able to develop a powerful, three-in-one test that could in future be used to help doctors select treatment, check whether it is working and monitor the cancer in the longer term. We think it could be used to make clinical decisions about whether a PARP inhibitor is working within as little as four to eight weeks of starting therapy.

“Not only could the test have a major impact on treatment of prostate cancer, but it could also be adapted to open up the possibility of precision medicine to patients with other types of cancer as well.”

Professor Paul Workman, Chief Executive of The Institute of Cancer Research, London, said:

“Blood tests for cancer promise to be truly revolutionary. They are cheap and simple to use, but most importantly, because they aren’t invasive, they can be employed or applied to routinely monitor patients to spot early if treatment is failing – offering patients the best chance of surviving their disease.

“This test is particularly exciting because it is multi-purpose, designed for use both before and after treatment, and using both the absolute amounts of cancer DNA in the bloodstream and also a readout of the specific mutations within that genetic material. We believe it can usher in a new era of precision medicine for prostate cancer.”

Professor David Cunningham, Director of Clinical Research at The Royal Marsden NHS Foundation Trust, said:

“This is another important example where liquid biopsies – a simple blood test as opposed to an invasive tissue biopsy – can be used to direct and improve the treatment of patients with cancer.”

Dr Matthew Hobbs, Deputy Director of Research at Prostate Cancer UK said:

“To greatly improve the survival chances of the 47,000 men diagnosed with prostate cancer each year, it’s clear that we need to move away from the current one-size-fits-all approach to much more targeted treatment methods. The results from this study and others like it are crucial as they give an important understanding of the factors that drive certain prostate cancers, or make them vulnerable to specific treatments.

“However, there is still much more to understand before the potentially huge benefits of widespread precision treatment for prostate cancer will reach men in clinics across the UK. That is why Prostate Cancer UK is investing so heavily in this area, including supporting this research released today.”

Explore further: New blood test predicts who will benefit from targeted prostate cancer treatments

A new blood test could predict which men with advanced prostate cancer will respond to new targeted treatments for the disease.

A pioneering cancer drug set to become the first to be approved specifically for inherited cancers could also be used much more widely to treat prostate cancer, a world-leading expert said today.

Men with prostate cancer benefit from treatment with the pioneering drug olaparib – the first cancer drug to target inherited mutations – according to the results of a major trial presented today (Tuesday).

A pioneering drug developed to treat women with inherited cancers can also benefit men with advanced prostate cancer, a major new clinical trial concludes.

Prostate cancer cells depend on signaling through the androgen receptor (AR) to grow and survive. Many anti-cancer therapies that target ARs are initially successful in patients, including a class of drugs known as CYP17A1 …

The loss of CHD1, one of the most frequently mutated genes in prostate tumors, sensitizes human prostate cancer cells to different drugs, including PARP inhibitors. This suggests CHD1 as a potential biomarker for targeted …

A large scale study of women carrying faults in important cancer genes should enable doctors to provide better advice and counselling for treatments and lifestyle changes aimed at reducing this risk.

New study results show for the first time how dying cells ensure that they will be replaced, and suggests an ingenious, related new approach to shrinking cancerous tumors. A research team from Rush University Medical Center …

Compounds from grapes may kill colon cancer stem cells both in a petri dish and in mice, according to a team of researchers.

Rhabdomyosarcoma, a cancer made up of cells that normally develop into skeletal muscles, is the most common soft tissue cancer in children. If it is detected early and localized in certain areas, rhabdomyosarcoma is usually …

While it’s widely held that tumors can produce blood vessels to support their growth, scientists now have evidence that cells key to blood vessel formation can also produce tumors and enable their spread.

Scientists have developed a three-in-one blood test that could transform treatment of advanced prostate cancer through use of precision drugs designed to target mutations in the BRCA genes.

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New three-in-one blood test opens door to precision medicine for prostate cancer – Medical Xpress

Will patients’ lifestyles become more important to precision medicine than gene sequencing? – Genetic Literacy Project

While much of the excitement surrounding precision medicine focuses on using genomics to tailor personalized treatment plans, speakers at the Precision Medicine Summit said theres more to it.

We cannot achieve precision medicine without having everyone be a participant and benefit and understand, said India Barnard-Hook, director of strategy and associate director of precision medicine at University of California, San Francisco. Precision medicine is about much more than genomics.

Social determinants of health, for instance, typically occur outside the healthcare system and have a significant impact on both health and individual outcomes.

You have to know a lot more than the clinical phenotype, said Linda Chin, chief innovation officer for health affairs at The University of Texas Health System.If you understand all the other factors that contribute to diseases, those can alter the course of the disease and ultimately prevent it.

Penn Medicine associate vice president of health technology and academic computing Brian Wells even made the bold prediction that genetic sequencing may become less relevant as cancer treatments become increasingly sophisticated.

If we discover one immunotherapy that applies to all cancers, we really dont need to sequence your genome anymore, Wells said. Were at a tipping point and sequencing could become less important.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:With precision medicine, social determinants could be more insightful than genetics

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Will patients’ lifestyles become more important to precision medicine than gene sequencing? – Genetic Literacy Project

Researchers discover single microglial protein that regulates AD risk genes – News-Medical.net

June 19, 2017

Genetic studies have turned up numerous genes linked to Alzheimer’s disease, but in most cases, researchers have no idea how the genes raise or lower risk. A new genetic analysis now suggests that most of these genes act in the brain’s immune cells, microglia, not in neurons. In the June 19 Nature Neuroscience, a large group of researchers led by Alison Goate at the Icahn School of Medicine at Mount Sinai, New York, identified a protective genetic variant that delays when Alzheimer’s disease starts.

The authors discovered that this variant lowered expression of the master microglial regulator PU.1. PU.1 regulates the expression of other microglial genes, controlling the cells’ survival and behavior. Notably, the authors found a huge number of AD risk genes among its downstream targets. Of 112 such genes they examined, 60 of them were expressed in microglia and controlled by PU.1. The results suggest that microglia, rather than neurons, may wield the most influence over AD pathogenesis.

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Researchers discover single microglial protein that regulates AD risk genes – News-Medical.net

A Couple’s Quest To Stop A Rare Disease Before It Takes One Of Them – NPR

Sonia Vallabh lost her mother to a rare brain disease in 2010, and then learned she had inherited the same genetic mutation. She and her husband, Eric Minikel, went back to school to study the family of illnesses prion diseases in the hope of finding a cure for Sonia. Kayana Szymczak for NPR hide caption

Sonia Vallabh lost her mother to a rare brain disease in 2010, and then learned she had inherited the same genetic mutation. She and her husband, Eric Minikel, went back to school to study the family of illnesses prion diseases in the hope of finding a cure for Sonia.

In 2010, Sonia Vallabh watched her mom, Kamni Vallabh, die in a really horrible way.

First, her mom’s memory started to go, then she lost the ability to reason. Sonia says it was like watching someone get unplugged from the world. By the end, it was as if she was stuck between being awake and asleep. She was confused and uncomfortable all the time.

“Even when awake, was she fully or was she really? And when asleep, was she really asleep?” says Sonia.

The smart, warm, artistic Kamni just 51 years old was disappearing into profound dementia.

“I think until you’ve seen it, it’s hard to actually imagine what it is for a person to be alive and their body is moving around, but their brain is not there anymore,” says Eric Minikel, Sonia’s husband.

In less than a year, Sonia’s mom died.

An autopsy showed Kamni had died from something rare a prion disease. Specifically, one called fatal familial insomnia because in some patients it steals the ability to fall asleep.

Basically, certain molecules had started clumping together in Kamni’s brain, killing her brain cells. It was all because of one tiny error in her DNA an “A” where there was supposed to be a “G,” a single typo in a manuscript of 6 billion letters.

Sonia sent a sample of her own blood to a lab, where a test confirmed she inherited the same mutation. The finding threw the family into grief all over again.

“But that grieving period sort of started to resolve within about a week or so,” she says. “And we weren’t in crisis anymore. We were finding our way toward a new normal, where this was something that we were going to have to live with and deal with and learn more about.”

Today, Sonia and her husband live and work in Cambridge, Mass., where they are both doctoral students in the lab of Stuart Schreiber, a Harvard professor of chemistry and chemical biology. Over the past several years, the couple has completely redirected their careers and their lives toward this single goal: to prevent prion disease from ever making Sonia sick.

The two wear bright colors and laugh easily. When they answer my questions, they look at each other instead of at me. They like complicated board games, urban walks and efficient cooking. They are thinkers and problem solvers, which is why, when Sonia got her genetic test results, it changed everything.

The change

“It didn’t happen all at once,” Sonia says. “There wasn’t a day when we woke up and said, ‘OK let’s change everything about our lives.'”

At the time, Sonia, who has a Harvard law degree, had just started a new job as a legal consultant. Eric was a transportation analyst.

But they couldn’t stop thinking about Sonia’s test result. They started researching prion diseases online, and invited over friends who are biologists and chemists, to help them understand the science.

“And around that time,” Sonia says, “we both enrolled in night classes as well,” in subjects like biology and neuroscience.

They were hungry to learn more as quickly as possible; the night classes weren’t enough.

“I was basically fresh out of law school and started walking into classes at MIT during the day because this was kind of all I could think about,” says Sonia, who at the time wore sneakers every day so that she could rush between work, classes, and a neuroscience lab at Massachusetts General Hospital. She’d started volunteering there, thanks to a professor from one of her classes, and mentors in the lab who helped her learn everything from how to use a pipette to how to work with human brain cells.

“And from there, this is where things happened surprisingly quickly,” Sonia says.

Eric and Sonia prepare materials for an experiment measuring prion protein in spinal fluid. They’re both third-year Harvard graduate students doing research at the Broad Institute in Cambridge, Mass. Kayana Szymczak for NPR hide caption

Eric and Sonia prepare materials for an experiment measuring prion protein in spinal fluid. They’re both third-year Harvard graduate students doing research at the Broad Institute in Cambridge, Mass.

The couple started a nonprofit, Prion Alliance, in hopes of raising money for research. Sonia left her legal job to work in the Mass General lab full-time as a technician. Then, Eric left his job and joined a genetics lab, applying his skills in coding to analyzing genetic data, rather than transportation data.

“I was getting left behind!” he says. “Sonia was out there doing all this science. It was her day job now and I was still in my old career and, you know, it was a good job and all, it was meaningful, but it wasn’t the mission that it was increasingly clear that we were going to be on.”

Just months after they’d finished grad school in law and urban planning, the pair went back to graduate school, this time in biomedical sciences to study prion diseases.

“You are talking to two third-year graduate students,” says Eric.

Life as scientists

The two now share an office and a lab bench, under Schreiber’s supervision, at the Broad Institute of MIT and Harvard.

“There’s a date in the future when Sonia will get the first dose of the drug that’s going to save her life,” Eric says. “What can I do today that brings that date closer to the present?”

A posted printout of an email says: “Let’s just blast forward and solve problems as they become real and as they need immediate solutions.” It’s a note Schreiber sent the pair at one point when they were worrying about bureaucratic hoops they had to jump through.

“I thought it was a good philosophy, so we printed it out and put it on the wall,” says Eric.

Sonia and Eric are “the best of humanity” Schreiber tells Shots. “Their story is, of course, remarkable, and they personify the concept of patientscientists. But their deep understanding of science and ability to innovate and execute on one of the hardest challenges in biomedical science are breathtaking.”

Schreiber says that his lab, like many others in biomedicine, has long included researchers who are physicians as well as scientists; that dual training and experience brings an important perspective to the research, he says.

“But the last decade has seen the emergence of patientscientists including Sonia and Eric, but also others in my lab,” he says. “And this has had an even greater impact on the lab. They remind us of our mission to understand and treat human disease.”

Still, it’s really hard to cure diseases especially conditions like this one, because the usual way scientists look for a treatment isn’t going to work.

Sonia is 33 years old. On average, people with the kind of genetic mutation she has usually start to show symptoms at age 50. But they could surface at any time. Symptoms of fatal familial insomnia have set in as early as age 12 and as late as 84. Once they do, it’s a rapid decline like Alzheimer’s disease on fast-forward.

“You’re healthy, you’re healthy, you’re healthy and then you’re falling off a cliff,” says Sonia. “You wait a little bit too long, and that patient is gone. We need to get out ahead of it aggressively.”

The challenge

They need to keep Sonia from getting sick in the first place. And they need to do it quickly. But right now, Sonia appears to be just fine, and that’s actually one of the first obstacles.

Across medicine, there is an understandable resistance to testing experimental drugs on healthy people. That’s why, traditionally, drug trials go something like this: Take a group of people who are sick, give some of them an experimental medicine, and wait to see if it makes them get better, live longer, or decline more slowly than people who didn’t get the drug.

But Sonia has to convince the medical establishment that, especially in the age of genetics, some people who seem perfectly healthy should be considered patients.

Sonia measures prion protein in mouse cells. In prion disease, certain proteins in the brain start clumping together, which eventually kills neurons. Kayana Szymczak for NPR hide caption

Sonia measures prion protein in mouse cells. In prion disease, certain proteins in the brain start clumping together, which eventually kills neurons.

“We have to be willing to act upstream of what we would traditionally call ‘illness’,” she says.

It’s a shift in mindset that she had to come to grips with, personally.

“I feel very lucky to be healthy today,” she says. “But I hold a sort of dual reality understanding of my own health, which is that I’m healthy today but very seriously at risk for a very serious disease.”

Others in the medical field, like Dr. Reisa Sperling, who studies Alzheimer’s disease, are making the same mental shift as they think about the best time to intervene.

“Alzheimer’s disease is a terrible disease. Many people fear it more than cancer,” says Sperling, a neurologist with Brigham and Women’s Hospital and Massachusetts General Hospital.

Like Sonia and Eric, she, too, is on a quest to prevent even the first symptoms of a terrible brain disease.

Sperling is now enrolling people whose brain scans show they might be in the very early stages of Alzheimer’s in a clinical trial to test an experimental drug treatment. And she’s planning another study in people as young as 50 who have no noticeable symptoms, but are at high risk of developing them.

“It really does primarily come down to thinking about disease as beginning years before symptoms,” says Sperling. “If we can shift that thinking not just in Alzheimer’s disease, but in rarer diseases like prion diseases I think this is the way we win the war.”

But before any of that can happen with a prion disease, there’s the problem of actually doing the science to find a good candidate drug.

The plan

Researchers don’t have one in hand yet, but they have a clear idea of what it should look like, based on studies in mice. Sonia and Eric already are talking to pharmaceutical companies that may be involved in running human trials in the future, and have requested a meeting with the Food and Drug Administration to talk about what a trial should involve.

Other efforts at treating prion disease have focused on preventing the misfolded proteins from killing brain cells, or on preventing them from accumulating. Sonia and Eric have a different approach.

“We’re really interested in preventing the misfolding in the first place,” says Sonia.

“Sonia’s brain is producing this mutant protein,” Eric says. “But as far as we know it’s not misfolded yet, and the disease process hasn’t started. I want her brain to be producing half or less of the amount of that protein as she is [producing] right now, because we know that less is better.”

Essentially, they want to muffle the faulty gene in order to reduce the amount of prion protein floating around in Sonia’s brain.

But a key question right now is this: Say they make the right drug and give it to Sonia and others with her type of mutation. If the goal is to change nothing about her current health, then how will they know it’s actually working?

A traditional clinical trial is out of the question, Eric says.

It would be unethical and untenable he says, to “just treat half of the people with a drug and half with placebo and then wait 30 years to see when they die.”

Not only would that kind of experiment condemn some patients to terrible death, it would also be wildly expensive and require thousands of participants. There are only a few hundred people in the U.S. with prion disease mutations.

“Instead, we need a biomarker,” Eric says. “We need some laboratory test that we can run on a living human to see if the drug is having its effect.”

The answer, Sonia and Eric hope, could be in a very cold refrigerator in the lab where they work. It’s full of samples of spinal fluid. In mouse studies, at least, reducing prion protein in the brain seems to delay disease progression.

So, Sonia and Eric are now studying samples of spinal fluid from all sorts of people from people who already have symptoms of prion disease, from others like Sonia (who have mutations for prion disease but no symptoms yet) and from healthy controls. The aim is to establish how the levels of protein in the samples change over time, to figure out if protein levels would be a good enough measure to say, “Yes, this drug works.”

“We have strong evidence that 50 percent [reduction] if we could achieve that would be protective,” says Sonia, based on preliminary findings in mice.

Others are optimistic, too

Sonia and Eric are organized, hardworking, and efficient. Ultimately, for them, failure is not an option. But on a day-to-day basis, failure is what science is all about.

Ericl and Sonia on their wedding day in 2009. Zamana Photography/Courtesy of Sonia Vallabh hide caption

Ericl and Sonia on their wedding day in 2009.

“In biology, if everything you did one day goes wrong, and then you figure out why it went wrong, that was a good day,” says Eric, who chronicles their struggles on a blog.

It’s an achingly slow process. But Eric thinks they will do it they’ll find a drug.

“I’m an optimist that we’ll get there in our lifetime,” he says, “but not this year and not next year.”

He’s not alone in his optimism. Sonia and Eric have some powerful colleagues who believe the couple can pull it off colleagues like Eric Lander, a renowned mathematician, geneticist and molecular biologist. He started the Human Genome Project and founded the Broad Institute where Sonia and Eric now work.

“This is not pie in the sky,” says Lander. “I see a path forward for multiple shots on goal. All you have to do is get one through.”

Fifteen years ago, he says, solving this puzzle would have seemed impossible. But now he believes the science, the technology, and the knowledge about what certain mutations mean for a person’s health have made defeating prion disease possible.

“Human genetics and molecular medicine are reaching a point of maturity where they’re becoming much more powerful,” he says. “It’s exciting and important and there’s nobody who’s more motivated than somebody who’s going to be affected by the disease themselves.”

One small success

In one way, Sonia and Eric have already stopped the disease in its tracks.

Sonia is very pregnant. She’s due in July to have a daughter a daughter without a mutation for prion disease. That’s something the couple made sure of by screening embryos after in vitro fertilization.

A collection of mementos from Sonia and Eric’s wedding in 2009 hangs on a wall in their apartment. Kayana Szymczak for NPR hide caption

A collection of mementos from Sonia and Eric’s wedding in 2009 hangs on a wall in their apartment.

So, they’ve stopped the transmission of prion disease in Sonia’s line of the family. And in a way, that’s a gift from Sonia’s mom, Kamni, the couple says.

“If my mom was still alive, we wouldn’t know any of this and we wouldn’t have had the opportunity to choose to have a mutation-negative baby,” says Sonia. “But, tragically, it also means that they’ll never meet.”

Sonia and Eric hope that, by the time their daughter is in elementary school, Sonia will be taking an experimental drug that could keep her as healthy as she is today.

Read more:

A Couple’s Quest To Stop A Rare Disease Before It Takes One Of Them – NPR

Personalized Medicine SFSU

Personalized medicine seeks to use genetic variation to develop new diagnostic tests and treatments and to identify the sub-groups of patients for whom they will work best. This approach can also help determine which groups of patients are more prone to developing some diseases and, ideally, help with the selection of lifestyle changes and/or treatments that can delay onset of disease or reduce its impact.

This year, to celebrate our tenth anniversary conference on personalized medicine, we take a longer view, looking at how our lives have changed since the advent of personalized, precision and genomic medicine, and just how far we have yet to go. We revisit the topics we focused upon in previous years, including bioinformatics, oncology, epigenetics, the genomics of rare disease, nth generation sequencing technologies, the microbiome, and the unprecedented developments in gene therapy and genome editing.

We examine the hard science, the clinical applications, the business potential, and the regulatory and ethical implications of personalized medicine in 2017. Where next for our society and our species?

Continue reading here:

Personalized Medicine SFSU

The Upside of Bad Genes – New York Times


New York Times
The Upside of Bad Genes
New York Times
Earlier this year, the National Academy of Sciences and the National Academy of Medicine issued recommendations on editing embryos and other germ line cells, calling for a high degree of caution but not prohibition. An obvious counterargument to the …
A Crack in Creation review Jennifer Doudna, Crispr and a great scientific breakthroughThe Guardian

all 5 news articles »

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The Upside of Bad Genes – New York Times

New three-in-one blood test opens door to precision medicine for prostate cancer – The Institute of Cancer Research

Scientists have developed a three-in-one blood test that could transform treatment of advanced prostate cancer through use of precision drugs designed to target mutations in the BRCA genes.

By testing cancer DNA in the bloodstream, researchers found they could pick out which men with advanced prostate cancer were likely to benefit from treatment with exciting new drugs called PARP inhibitors.

They also used the test to analyse DNA in the blood after treatment had started, so people who were not responding could be identified and switched to alternative therapy in as little as four to eight weeks.

And finally, they used the test to monitor a patients blood throughout treatment, quickly picking up signs that the cancer was evolving genetically and might be becoming resistant to the drugs.

The researchers, at The Institute of Cancer Research, London, and The Royal Marsden NHS Foundation Trust, say their test is the first developed for a precision prostate cancer therapy targeted at specific genetic faults within tumours.

It could in future allow the PARP inhibitor olaparibto become a standard treatment for advanced prostate cancer, by targeting the drug at the men most likely to benefit, picking up early signs that it might not be working, and monitoring for the later development of resistance.

The study is published today(Monday) in the prestigious journal Cancer Discovery. It was funded by the Prostate Cancer Foundation, Prostate Cancer UK, The Movember Foundation, Cancer Research UKand the National Institute for Health Research(NIHR) via the Experimental Cancer Medicine Centre Network, and the NIHR Biomedical Research Centreat The Royal Marsden and the ICR.

The test could help to extend or save lives, by targeting treatment more effectively, while also reducing the side-effects of treatment and ensuring patients dont receive drugs that are unlikely to do them any good.

The new study is also the first to identify which genetic mutations prostate cancers use to resist treatment with olaparib. The test could potentially be adapted to monitor treatment with PARP inhibitors for other cancers.

Researchers at the ICR and The Royal Marsden collected blood samples from 49 men at The Royal Marsden with advanced prostate cancer enrolled in the TOPARP-A phase II clinical trial of olaparib.

Olaparib is good at killing cancer cells that have errors in genes that have a role in repairing damaged DNA such as BRCA1 or BRCA2. Some patients respond to the drug for years, but in other patients, the treatment either fails early, or the cancer evolves resistance.

Douglas Baker, aged 73 from Berkshire, has been receiving olaparib for prostate cancer for a year and a half. He is being treated at The Royal Marsden. He said: “Over 14 years I’ve had chemotherapy, radiotherapy, everything they could throw at it. It had spread to my lymph nodes and liver but since I’ve been on olaparib these tumours have shrunk. I took part in this trial to give something back. I’ve been on olaparib for 18 months now and can stay on it for as long as it works. I feel very lucky, especially as I feel well.”

Find out more about the prostate cancer research undertaken at our Movember Centre of Excellence.

Learn more

Looking at the levels of cancer DNA circulating in the blood, the researchers found that patients who responded to the drug had a median drop in the levels of circulating DNA of 49.6 per cent after only eight weeks of treatment, whereas cancer DNA levels rose by a median of 2.1 per cent in patients who did not respond.

Men whose blood levels of DNA had decreased at eight weeks after treatment survived an average of 17 months, compared with only 10.1 months for men whose cancer DNA levels remained high.

The researchers also performed a detailed examination of the genetic changes that occurred in cancer DNA from patients who had stopped responding to olaparib. They found that cancer cells had acquired new genetic changes that cancelled out the original errors in DNA repair particularly in the genes BRCA2 and PALB2 that had made the cancer susceptible to olaparib in the first place.

The research puts into action the central aim of the ICRs and The Royal Marsdensresearch strategy, which is to overcome cancers adaptability, evolution and drug resistance.

Professor Johann de Bono, Regius Professor of Cancer Research at The Institute of Cancer Research, London, and Consultant Medical Oncologist at The Royal Marsden NHS Foundation Trust, said: Our study identifies, for the first time, genetic changes that allow prostate cancer cells to become resistant to the precision medicine olaparib.

From these findings, we were able to develop a powerful, three-in-one test that could in future be used to help doctors select treatment, check whether it is working and monitor the cancer in the longer term. We think it could be used to make clinical decisions about whether a PARP inhibitor is working within as little as four to eight weeks of starting therapy.

Not only could the test have a major impact on treatment of prostate cancer, but it could also be adapted to open up the possibility of precision medicine to patients with other types of cancer as well.

Professor Paul Workman, Chief Executive of the ICR, said: Blood tests for cancer promise to be truly revolutionary. They are cheap and simple to use, but most importantly, because they arent invasive, they can be employed or applied to routinely monitor patients to spot early if treatment is failing offering patients the best chance of surviving their disease.

This test is particularly exciting because it is multi-purpose, designed for use both before and after treatment, and using both the absolute amounts of cancer DNA in the bloodstream and also a readout of the specific mutations within that genetic material. We believe it can usher in a new era of precision medicine for prostate cancer.

Professor David Cunningham, Director of Clinical Research at The Royal Marsden NHS Foundation Trust, said: This is another important example where liquid biopsies a simple blood test as opposed to an invasive tissue biopsy can be used to direct and improve the treatment of patients with cancer.

Dr Matthew Hobbs, Deputy Director of Research at Prostate Cancer UKsaid: To greatly improve the survival chances of the 47,000 men diagnosed with prostate cancer each year, its clear that we need to move away from the current one-size-fits-all approach to much more targeted treatment methods. The results from this study and others like it are crucial as they give an important understanding of the factors that drive certain prostate cancers, or make them vulnerable to specific treatments.

However, there is still much more to understand before the potentially huge benefits of widespread precision treatment for prostate cancer will reach men in clinics across the UK. That is why Prostate Cancer UK is investing so heavily in this area, including supporting this research released today.

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New three-in-one blood test opens door to precision medicine for prostate cancer – The Institute of Cancer Research

Precision medicine: Hype today but the promise is even bigger than we think – Healthcare IT News

Precision medicine is more hype than reality right now but, at the same time, the incredible potentialit holds for the future is even greater than all the buzz teases today.

Thats what I came away with from the Precision Medicine Summit in Boston this week.

Lets look into the distant future: A patient walks into a hospital to meet with clinicians who run tests and pinpoint a biomarker for, say, Alzheimers. Then a gene surgeon does some on-the-spot genome editing. The patient walks out with that Alzheimers-free-for-life feeling.

Primary care andgenome sequencing will come to the forefrontto identify which patients can benefit in a future where genome editing is widespread, said Ross Wilson, principal investigator at the University of California Berkeleys Institute for Quantitative Biosciences.

Just how widespread can precision medicine get? Well, Eric Dishman, who spearheads the NIHs All of Us program said the program is starting off with the goal of attracting 1 million American participants but is already thinking about how toscale that into the billionsglobally.

Getting genomic data into an EHR The grand vision is to democratize research and apply more brainpower per problem to the most vexing medical issues.

Before we can get there, though, a lot has to happen to hammer out data gathering and sharing capabilities, retool the healthcare system so its much more adaptable to change and ultimately modernize IT infrastructure to support precision medicine and all the data that entails.

Robert Green, MD, a medical geneticist and physician-scientist at Brigham and Womens Hospital and Harvard Medical School predicted skirmishes,if not all-out war, over genetic and genomic screening practices: with clinicians and patients on one side, calling for as much information as they can possibly get, versus public health officials and others, warning about the unforeseeable consequences of over-screening.

Among the reasons that people are refusing to participate in genetic testing is fear of discriminationby life, disability or long-term care insurance companies, according to Mayo Clinic Department of Laboratory Medicine and Pathology attorney Sharon Zehe. She added that the whole scenario puts providers in an awkward position because even among patients who are willing to undergo screening, many dont want that data to live in their medical records.

Not that getting genetic data into a medical record is exactly easy. One of the fascinating accounts at the conference was Washington University genetics fellow and bioinformaticist Nephi Walton explaining how it took nine months working with Epic to include genetic results into the EHR. You can make a human in that time, Walton said to laughter from the audience as he turned to a slide with a baby picture.

Precision medicine architecture emerging While its true that todays EHRs and IT infrastructure are not ready for the big data needs of precision medicine and I saw that thesame thing is true about population healthlast month at least one architecture is emerging.

Indeed, the strategy of harnessing FHIR standards, with mobile phones as middleware and a common data repository outside the EHR, is an apt way to manage the demands of precision medicine, said John Halamka, MD, CIO of Beth Israel Deaconess Medical Center. The idea is to maximize what patients already have in their homes.

That approach also gives patients more controlover who can and cannot share their data, including researchers, which India Hook-Barnard, director of strategy and associate director of precision medicine at University of California, San Francisco, said it is both the right thing to do and sound science.

But even the architecture Halamka described and giving patients more control over data sharing will not conquer all precision medicine challenges, of course. Michael Dulin, MD, director of the academy for population health innovation at the University of North Carolina Charlotte said simply dumping a whole heap of genomic data on top of the already broken healthcare system, replete with huge variances and medical errors, may actually yield worse outcomes than we have today.

We have to use technology, we need AI, Dulin said. We cannot do this without it.

Walton noted that first we need simple artificial intelligence and machine learning algorithms just to clean up healthcares messy data so its suitable for more sophisticated AI tools.

Becoming’precision health’ What was perhaps the boldest prediction to emerge from the conference came from Bryce Olsen, global strategist for Intels Health and Life Sciences unit: Patients will start asking for precision medicine in the second half of 2017 though many of them will not even realize what theyre requesting.

Patients are going to demand that doctors get a better understanding of underlying drivers of disease and defects in their tumor. Were going to see this for cancer first, Olsen said. Doctors that dont have good answers will see patients bounce.

Ill add one more to the mix: Precision medicine, in both term and concept, will be supplanted by the phrase precision health and, yes, this is distinct from how Im seeing digital health become digital medicine.

Precision health, said Megan Mahoney, chief of primary care in Stanfords population health division, is a fundamental shift to a more proactive and personalized approach that empowers people to live healthy lives.

Twitter:SullyHIT Email the writer:tom.sullivan@himssmedia.com

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Precision medicine: Hype today but the promise is even bigger than we think – Healthcare IT News

Scientists Find Genetic Mutation That Could Increase the Male Lifespan – Gizmodo

Jiroemon Kimura, the oldest man ever (Image: YouTube/Screenshot)

Professor S. Jay Olshansky once told Gizmodo, In the world of aging sciences, if you want to live a long life, choose long-lived parents. So genetic markers linked to longevity are interesting as hell. But if youve got the wrong genes, then the wrong moves might do you in.

A team of researchers from universities in the United States wanted to figure out the role of genetics in human lifespan, specifically relating to growth hormone. The researchers work shows two main things: first, that a mutation in mens DNA relating to growth hormone might lead to a longer lifespan. And secondly, that treating older people with growth hormone might be dangerous if they dont have the variation.

Gil Atzmon, the studys principal investigator from Albert Einstein College of Medicine and the University of Haifa in Israel, was most excited by how a slight change in DNA could have such a big impact. Delete a few base pairs, and you still have a functional protein that now makes people live longer, he said. I think this is phenomenal.

This is complex, so Im going to take it slow and possibly oversimplify things. Basically, theres one system in question, the IGF-1/GH axis. Each of these are genes that code for different molecules in your body.

Researchers have already had a hunch that IGF-1 can regulate height at the expense of longevity, like the case in dogs. More IGF-1 means taller but shorter lifespan and less IGF-1 means shorter but longer lifespan. This should make senseits akin to the way big dogs live shorter lives than small dogs.

The researchers studied 800 men and women from across four populations and found something surprising. Indeed, the IGF-1 levels were lower in the centenarians, but many of the men were also taller. The data showed the researchers that theres more than just IGF-1 at play.

Centenarian males were often missing a specific snippet of DNA in their GHR gene. These people seem to be more sensitive to growth hormone and grow taller. So, even though their IGF-1 levels were lower (they lived longer), they still grew taller from their special GH gene. The people with this mutation seemed to live ten years longer, on average.

And the study really was huge. The replication across the four different populations makes our result more accurate and globally translated.

Atzmon himself admitted that all this is pretty complex. But its definitely new, important evidence pointing to the role that this IGF-1/GH axis plays in simultaneously determining your height and your lifespan, explained Andrzej Bartke, Professor of Physiology and Internal Medicine at Southern Illinois University School of Medicine, in a conversation with Gizmodo.

But were not at some level of life-hacking clarity. Clearly more research is needed to understand exactly why this type of GH receptor favors extreme longevity, why the effect was seen only in men and why the results in people studied by these investigators differ from some of the previous findings in different groups of human subjects with the same type of receptors, said Bartke.

Theres a catch to all this. Their results seemed to show that folks who dont have the GH variation might actually be sensitive to growth hormone therapy. This is a stark reminder that administering growth hormone as an intervention to slow agingwhich is still being done in the anti-aging medicine industry is not warranted by the scientific literature, Olshansky told Gizmodo. In fact, could actually be harmful.

So, youre still going to die one day. But as to when, that answer probably doesnt reside in what you eat (or in young blood) nearly as much as it does in what your DNA looks like.

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Scientists Find Genetic Mutation That Could Increase the Male Lifespan – Gizmodo

Genomic analysis of liver cancer reveals unexpected genetic players – Medical Xpress

June 16, 2017 Cancer cell during cell division. Credit: National Institutes of Health

Liver cancer has the second-highest worldwide cancer mortality, and yet there are limited therapeutic options to manage the disease. To learn more about the genetic causes of this cancer, and to identify potential new therapeutic targets for HCC, a nation-wide team of genomics researchers co-led by David Wheeler, Director of Cancer Genomics and Professor in the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, and Lewis Roberts, Professor of Medicine at the Mayo Clinic, analyzed 363 liver cancer cases from all over the world gathering genome mutations, epigenetic alteration through DNA methylation, RNA expression and protein expression. The research appears in Cell.

Part of the larger Cancer Genome Atlas project (TCGA), this work represents the first large scale, multi-platform analysis of HCC looking at numerous dimensions of the tumor. “There have been large-cohort studies in liver cancer in the past, but they have been limited mainly to one aspect of the tumor, genome mutation. By looking at a wide variety of the tumor’s molecular characteristics we get substantially deeper insights into the operation of the cancer cell at the molecular level,” Wheeler said.

The research team made a number of interesting associations, including uncovering a major role of the sonic hedgehog pathway. Through a combination of p53 mutation, DNA methylation and viral integrations, this pathway becomes aberrantly activated. The sonic hedgehog pathway, the role of which had not been full appreciated in liver cancer previously, is activated in nearly half of the samples analyzed in this study.

“We have a very active liver cancer community here at Baylor, so we had a great opportunity to work with them and benefit from their insights into liver cancer,” Wheeler said. Among the many critical functions of the liver, hepatocytes expend a lot of energy in the production of albumin and urea. It was fascinating to realize how the liver cancer cell shuts these functions off, to its own purpose of tumor growth and cell division.

“Intriguingly, we found that the urea cycle enzyme carbamyl phosphate synthase is downregulated by hypermethylation, while cytoplasmic carbamyl phosphate synthase II is upregulated,” said Karl-Dimiter Bissig, Assistant Professor of Molecular and Cellular Biology at Baylor and co-author of the study. “This might be explained by the anabolic needs of liver cancer, reprogramming glutamine pathways to favor pyrimidine production potentially facilitating DNA replication, which is beneficial to the cancer cell.”

“Albumin and apolipoprotein B are unexpected members on the list of genes mutated in liver cancer. Although neither has any obvious connection to cancer, both are at the top of the list of products that the liver secretes into the blood as part of its ordinary functions,” explained Dr. David Moore, professor of molecular and cellular biology at Baylor. “For the cancer cell, this secretion is a significant loss of raw materials, amino acids and lipids that could be used for growth. We proposed that mutation of these genes would give the cancer cells a growth advantage by preventing this expensive loss.”

Multiple data platforms coupled with clinical data allowed the researchers to correlate the molecular findings with clinical attributes of the tumor, leading to insights into the roles of its molecules and genes to help design new therapies and identify prognostic implications that have the potential to influence HCC clinical management and survivorship.

“This is outstanding research analyzing a cancer that’s increasing in frequency, especially in Texas. Notably, the observation of gene expression signatures that forecast patient outcome, which we validate in external cohorts, is a remarkable achievement of the study. The results have the potential to mark a turning point in the treatment of this cancer,” said Dr. Richard Gibbs, director of the HGSC at Baylor. The HGSC was also the DNA sequence production Center for the project.

Wheeler says they expect the data produced by this TCGA study to lead to new avenues for therapy in this difficult cancer for years to come. “There are inhibitors currently under development for the sonic hedgehog pathway, and our results suggest that those inhibitors, if they pass into phase one clinical trials, could be applied in liver cancer patients, since the pathway is frequently activated in these patients,” added Wheeler.

Explore further: Study identifies a role for the metabolism regulator PPAR-gamma in liver cancer

More information: Adrian Ally et al. Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma, Cell (2017). DOI: 10.1016/j.cell.2017.05.046

Journal reference: Cell

Provided by: Baylor College of Medicine

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Genomic analysis of liver cancer reveals unexpected genetic players – Medical Xpress

Analyses of liver cancer reveals unexpected genetic players – Baylor College of Medicine News (press release)

Liver cancer has the second-highest worldwide cancer mortality, and yet there are limited therapeutic options to manage the disease. To learn more about the genetic causes of this cancer, and to identify potential new therapeutic targets for HCC, a nation-wide team of genomics researchers co-led by David Wheeler, Director of Cancer Genomics and Professor in the Human Genome Sequencing Center (HGSC) at Baylor College of Medicine, and Lewis Roberts, Professor of Medicine at the Mayo Clinic, analyzed 363 liver cancer cases from all over the world gathering genome mutations, epigenetic alteration through DNA methylation, RNA expression and protein expression. The research appears in Cell.

Part of the larger Cancer Genome Atlas project (TCGA), this work represents the first large scale, multi-platform analysis of HCC looking at numerous dimensions of the tumor. There have been large-cohort studies in liver cancer in the past, but they have been limited mainly to one aspect of the tumor, genome mutation. By looking at a wide variety of the tumors molecular characteristics we get substantially deeper insights into the operation of the cancer cell at the molecular level, Wheeler said.

The research team made a number of interesting associations, including uncovering a major role of the sonic hedgehog pathway. Through a combination of p53 mutation, DNA methylation and viral integrations, this pathway becomes aberrantly activated. The sonic hedgehog pathway, the role of which had not been full appreciated in liver cancer previously, is activated in nearly half of the samples analyzed in this study.

We have a very active liver cancer community here at Baylor, so we had a great opportunity to work with them and benefit from their insights into liver cancer, Wheeler said. Among the many critical functions of the liver, hepatocytes expend a lot of energy in the production of albumin and urea. It was fascinating to realize how the liver cancer cell shuts these functions off, to its own purpose of tumor growth and cell division.

Intriguingly, we found that the urea cycle enzyme carbamyl phosphate synthase is downregulated by hypermethylation, while cytoplasmic carbamyl phosphate synthase II is upregulated, said Karl-Dimiter Bissig, Assistant Professor of Molecular and Cellular Biology at Baylor and co-author of the study. This might be explained by the anabolic needs of liver cancer, reprogramming glutamine pathways to favor pyrimidine production potentially facilitating DNA replication, which is beneficial to the cancer cell.

Albumin and apolipoprotein B are unexpected members on the list of genes mutated in liver cancer. Although neither has any obvious connection to cancer, both are at the top of the list of products that the liver secretes into the blood as part of its ordinary functions, explained Dr. David Moore, professor of molecular and cellular biology at Baylor. For the cancer cell, this secretion is a significant loss of raw materials, amino acids and lipids that could be used for growth. We proposed that mutation of these genes would give the cancer cells a growth advantage by preventing this expensive loss.

Multiple data platforms coupled with clinical data allowed the researchers to correlate the molecular findings with clinical attributes of the tumor, leading to insights into the roles of its molecules and genes to help design new therapies and identify prognostic implications that have the potential to influence HCC clinical management and survivorship.

This is outstanding research analyzing a cancer thats increasing in frequency, especially in Texas. Notably, the observation of gene expression signatures that forecast patient outcome, which we validate in external cohorts, is a remarkable achievement of the study. The results have the potential to mark a turning point in the treatment of this cancer, said Dr. Richard Gibbs, director of the HGSC at Baylor. The HGSC was also the DNA sequence production Center for the project.

Wheeler says they expect the data produced by this TCGA study to lead to new avenues for therapy in this difficult cancer for years to come. There are inhibitors currently under development for the sonic hedgehog pathway, and our results suggest that those inhibitors, if they pass into phase one clinical trials, could be applied in liver cancer patients, since the pathway is frequently activated in these patients, added Wheeler.

This work was supported by the National Institutes of Health and represents the last major cancer to be analyzed in the TCGA program. See a full list of contributors.

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Analyses of liver cancer reveals unexpected genetic players – Baylor College of Medicine News (press release)

ACMG’s Genetics in Medicine Journal Receives Record High Impact Factor of 8.229 for 2016: GIM Now in Top 2.5% of … – PR Newswire (press release)

“We are very excited that the Impact Factor has again increased for Genetics in Medicine. This is a testament to the excellent work by those in the genetics field who have been kind enough to submit their high-quality work to GIM, the hard work of the editorial board and the strength of the American College of Medical Genetics and Genomics. It is also an important reflection of the fact that genetics and genomics are increasingly important in the broader practice of medicine,” said GIM’s Editor-in-Chief Jim Evans, MD, PhD, FACMG. Evans added that the journal’s success is a reflection of the importance, contributions and visibility of the American College of Medical Genetics and Genomics.

ACMG President Louanne Hudgins, MD, FACMG said, “Dr. Jim Evans and the entire editorial team at Genetics in Medicine should be congratulated on this great accomplishment! The steady rise of the impact factor for GIM over the past several years reflects the incredible hard work of Dr. Evans, the editorial board and the staff. It also highlights the critical role of medical genetics and genomics in the practice of medicine and the excellent science being performed by the authors, many of whom are members of the ACMG. This important publication is essential in promulgating ACMG’s official policy statements and clinical and laboratory guidelines, thereby improving the practice of medical genetics.”

Genetics in Medicine is published by Springer Nature (www.nature.com/gim).

The journal, published since 1998, is supported by an expert Board of Editors representing all facets of genetic and genomic medicine, including such specialties as biochemical genetics, cytogenetics and pharmacogenetics.

About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, ACMG is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics. The American College of Medical Genetics and Genomics (www.acmg.net) provides education, resources and a voice for more than 2000 biochemical, clinical, cytogenetic, medical and molecular geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. The College’s mission is to develop and sustain genetic initiatives in clinical and laboratory practice, education and advocacy. Three guiding pillars underpin ACMG’s work: 1) Clinical and Laboratory Practice: Establish the paradigm of genomic medicine by issuing statements and evidence-based or expert clinical and laboratory practice guidelines and through descriptions of best practices for the delivery of genomic medicine. 2) Education: Provide education and tools for medical geneticists, other health professionals and the public and grow the genetics workforce. 3) Advocacy: Work with policymakers and payers to support the responsible application of genomics in medical practice. Genetics in Medicine, published monthly, is the official ACMG peer-reviewed journal. ACMG’s website (www.acmg.net) offers a variety of resources including Policy Statements, Practice Guidelines, Educational Resources, and a Find a Geneticist tool. The educational and public health programs of the American College of Medical Genetics and Genomics are dependent upon charitable gifts from corporations, foundations, and individuals through the ACMG Foundation for Genetic and Genomic Medicine (www.acmgfoundation.org.)

Contact Kathy Ridgely Beal, MBA 301-238-4582 kbeal@acmg.net

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/acmgs-genetics-in-medicine-journal-receives-record-high-impact-factor-of-8229-for-2016-gim-now-in-top-25-of-all-indexed-journals-300474733.html

SOURCE American College of Medical Genetics and Genomics

http://www.acmg.net

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ACMG’s Genetics in Medicine Journal Receives Record High Impact Factor of 8.229 for 2016: GIM Now in Top 2.5% of … – PR Newswire (press release)

Newly revealed cellular pathway may lead to cancer therapies – Baylor College of Medicine News (press release)

Scientists have discovered a new cellular pathway that can promote and support the growth of cancer cells. In a mouse model of melanoma, blocking this pathway resulted in reduction of tumor growth. The study, which appears in Science, offers a novel opportunity to develop drugs that could potentially inhibit this pathway in human cancer cells and help control their growth.

We had been studying components of this pathway for several years, said senior author Dr. Andrea Ballabio, professor of molecular and human genetics at Baylor College of Medicine and Texas Childrens Hospital in Houston, Texas, and director of the Telethon Institute of Genetics and Medicine in Naples, Italy. We know that the pathway is important for normal cells to carry their activities as it is involved in regulating metabolism, that is, how cells process nutrients to obtain energy and how cells use energy to grow. In this study we wanted to learn more about how the pathway regulates its activity.

Pathways involved in cellular metabolism typically regulate themselves, meaning that some components of the pathway control each others activities. We suspected that the pathway was autoregulated, and we confirmed it in this study. Our experimental approaches showed that there is a feedback loop within the path that allows it to control itself.

An important pathway for normal cellular activities

Ballabio and his colleagues studied the role of the pathway in two normal cellular activities; how cells respond to physical exercise and how they respond to nutrient availability. In terms of physical exercise, the researchers determined that the self-regulating mechanism they discovered is essential for the body builder effect.

Some athletes take the aminoacid leucine or a mixture of aminoacids immediately after exercising, which promotes protein synthesis that leads to muscle growth. This is the body builder effect, Ballabio said. When we genetically engineered mice to lack the pathway, we lost the body builder effect.

The researchers had a group of normal mice and another of mice lacking the pathway. Both groups were set to exercise and fed leucine immediately after. While normal mice showed enhanced protein synthesis, the mice without the pathway did not.

In healthy organisms, this pathway also allows cells to adapt more efficiently to nutrient availability, Ballabio said. For example, when transitioning from a period of starvation to one in which food is available, cells need to switch from catabolism to anabolism. Starvation promotes catabolism the breakdown of nutrients to obtain energy to function and eating promotes anabolism the buildup of molecules, such as proteins. The feedback we discovered mediates the switch from catabolism to anabolism, allowing organisms to adapt to food availability.

An important pathway for cancer growth

The scientists also studied the role this pathway might play in cancer cells. They discovered that overactivation of this pathway, which is observed in some types of cancer such as renal cell carcinoma, melanoma and pancreatic cancer, is important to promote and support the growth of cancer cells in culture and animal models.

Most importantly, we demonstrated in our study that blocking the pathway resulted in reduction of tumor growth in an experimental model of human melanoma transplanted into mice, Ballabio said. I am most excited about the future potential therapeutic applications of this discovery against cancer. Developing pharmacological treatments that interfere with this pathway might one day help stop tumor growth.

Rare disease discoveries can improve our understanding of common diseases

Our lab focuses on rare genetic diseases, such as lysosomal storage genetic disorders, in which we originally studied this pathway, Ballabio said. Then, we discovered that the pathway is also important in cancer. Our and other researchers work on rare genetic diseases sometimes produces findings that can potentially be applicable to more common diseases, such as cancer.

For a complete list of the authors of this work and their affiliations, please refer to the published article.

This study was supported by grants from the Italian Telethon Foundation (TGM11CB6); European Research Council Advanced Investigator grant no. 250154 (CLEAR) and no. 341131 (InMec); U.S. National Institutes of Health (R01-NS078072); and the Associazione Italiana per la Ricerca sul Cancro (A.I.R.C.) IG 2015 Id 17639 and IG 2015 Id 17717.

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Newly revealed cellular pathway may lead to cancer therapies – Baylor College of Medicine News (press release)

Why legal challenges could slow down precision medicine – Healthcare IT News

BOSTON — While researchers and providers continue to make strides to make precision medicine more of the norm, obvious barriers like government regulations are hindering widespread implementation.

But providers also need to be aware of the legal entanglements, once they begin to incorporate genetics and precision medicine into operations.

[Also:How precision medicine can fix a broken healthcare system]

To Sharon Zehe, attorney for Mayo Clinic Department of Laboratory Medicine and Pathology, there are four major legal challenges to precision medicine: Navigating research and privacy protections on gathered data; providing affordable testing for patients without breaking fraud and abuse laws; responsibly using results as the data evolves; and discrimination

The issue that I see for the most part is discrimination, Zehe said at the HIMSS Precision Medicine Summit on Monday. People are refusing genetic testing and research, as theyre concerned about discrimination.

While the Genetic Information Nondiscrimination Act became law in 2008, which prohibits discrimination in health insurance, it doesnt cover life insurance, disability insurance or long-term care insurance, said Zehe. And patients are worried about results of these tests because of these purposes.

[Also:Widespread precision medicine is still years away, experts say]

And no, genetic data cant be kept out of the medical record, said Zehe.

Providers are in an awkward position, she added. While the FDA is making strides on better educating providers on whats expected when it comes to testing, there is still a long way to go.

The FDA published draft guidance for NGS testing in July 2016 and is in the process of creating a workable regulatory platform to encourage innovation, while ensuring accuracy.

Genetic data is PHI, but the genetic sequence is not considered PHI, said Zehe. But the minute the sequence is interpreted it becomes PHI. Theres a delicate balance between sharing sequencing data and related data, while protecting identity of participants or patients.

[Also:Eric Dishman wants precision medicine to move from personal to universal]

Another issue involves who pays for testing, as there are many ways providers and labs can find themselves in legal trouble.

For example, Zehe said, Were seeing pharma companies teaming with labs to offer free testing for patients. Pharma companies say I will pay for all tests. Providers can order tests and dont need to worry about reimbursement, as a test sent to that lab would be paid by the pharma company.

While it appears the pharma company is doing that to be altruistic, theyre doing it for the data, sahe continued.

Labs are also running tests in exchange for data. Entering into that type of collaborating involves the lab sharing a lot of data — but all of that data sharing must be HIPAA-compliant, said Zehe. Do your patients know the data is being given to pharma?

Health plans also often lack coverage and may require preauthorization.

Providers may want to use a lab with limited charges to patients, Zehe said. But there are several lawsuits from payers on these fee forgiveness programs to patients, who never receive a bill.

While financial assistance is ok, a lab cant come in and say a patient doesnt have to pay, as it breaches the insurance contract — tortious interference, she continued.

Twitter:@JessieFDavis Email the writer: jessica.davis@himssmedia.com

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Why legal challenges could slow down precision medicine – Healthcare IT News

Laboratory IT systems grapple with genetic testing surge – Healthcare IT News

BOSTON Precision medicine holds big promise, but it’s also posing big challenges for hospital labs trying to manage a huge increase in requests for genetic tests.

At the HIMSS Precision Medicine Summit on Tuesday, Patrick Mathias, associate director of laboratory medicine informatics at University of Washington, spotlighted just how complex the genetic testing boom has become for clinical technology.

Hospital laboratories are “feeling the first wave of precision medicine,” said Mathias, as they’re “on the front lines of coordinating high-complexity testing.”

[Also:How Penn Medicine primed its IT infrastructure for precision medicine]

Many hospitals rely on having to send out tests to reference laboratory when testing is unavailable at primary lab. But that leads to IT challenges for hospitals. Most distinct tests aren’t integrated into EHRs and there’s a big potential for order entry errors from tests not defined in clinical information systems.

As genetic testing has evolved in complexity beyond the single-gene paradigm, the genetic testing market has become similarly complex and dynamic, he said with more than 69,100 genetic testing products on the market and as many as 10 new ones every day.

[Also:EHRs and health IT infrastructure not ready for precision medicine]

To improve the management of tests and better integrate their genetic information into workflow, Seattle Childrens Hospital which spends more than $1,000,000 annually on genetic sendout testing helped launched the Pediatric Laboratory Utilization Guidance Services, or PLUGS, a nationwide network with more 60 other hospitals and health systems, with the aim of improving ordering, retrieval, interpretation and reimbursement for genetic tests.

Along the way, within its own walls, coordination between clinical and IT staff was key, said Mathias, and demanded a nuanced approach to process improvement from both sides of the equation.

The initiative required staff at Seattle Children’s to embrace workflow standardization improve the efficiency of manual sendout processes through. The hospital had to bolster lab staff expertise to improve ordering process, streamlining test comparison and get better test result management.

It also made used lab genetic counselors to improve quality and reduce costs they help spot and correct errors that could impacting patient safety, said Mathias, leading to cost savings that in turn justify the addition of more resources.

Having achieved those successes, “the challenge was how can we do that so we can scale across all health systems,” said Mathias.

PLUGS enables hospital labs across to decrease testing costs and errors. Seattle Children’s says network members that have implemented smart utilization management have achieved savings of 10 percent or more on their sendout testing.

Within his hospital, Mathias said clinicians and IT staff are still grappling with certain aspects of precision medicine especially making better use of testing results in clinical workflow.

“There’s this foundational question of, if you want data in the workflow, there has to be some EHR integration,” he said. “I don’t think we’ve really solved that question yet.

HL7 and FHIR standards are helping, he said, but “this is the tip of the iceberg we need to lower the barrier to move usable genetic data.”

But while integrating genomic data remains “an ongoing challenge,” said Mathias, “we are creating actionable results today.”

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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Laboratory IT systems grapple with genetic testing surge – Healthcare IT News