BIO extra credit - Genetics

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Muscular Dystrophy
Video 1: In this film from 1910, a boy demonstrates clinical maneuvers that are still used today in gene-therapy trials for Duchenne #39;s muscular dystrophy. The boy has pseudohypertrophy of...

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Muscular Dystrophy - Video

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By Estel Grace Masangkay

Pfizer announced two major moves that will expand its rare disease R&D activities. First, the company said it will establish a gene therapy platform through its newly inked agreement with Spark Therapeutics. Secondly, it has appointed Dr. Michael Linden, Director of the University College London Gene Therapy Consortium, as head of Pfizers gene therapy research in rare diseases area.

Late-stage gene therapy firm Spark Therapeutics will collaborate with Pfizer to develop SPK-FIX, a program incorporating a bio-engineered AAV vector as potential treatment for Hemophilia B. SPK-FIX is set to begin Phase 1/2 clinical trials in the first half of 2015. Under the terms of the agreement, Spark Therapeutics will stay at the helm of the products Phase 1/2 clinical development studies. Pfizer will take over for pivotal studies, regulatory approvals, and potential commercialization of SPK-FIX worldwide. Pfizer will pay Spark an upfront fee of $20 million with up to $260 million in milestone payments for several hemophilia B product leads that may result from the collaboration. Spark will also be eligible to receive royalties based on global sales of the resulting products.

Geno Germano, group president of Global Innovative Pharma Business at Pfizer, said, We believe the SPK-FIX program could add to our existing portfolio of hemophilia products and could pioneer a potential new treatment technology for patients with bleeding disorders.

We are excited to announce our collaboration with Pfizer, as we believe it marks an important step towards bringing a potentially life-altering therapeutic to patients with hemophilia B, said Jeffrey D. Marrazzo, co-founder and CEO of Spark. The company recently announced that it has received Breakthrough Therapy Designation from the FDA for its lead drug candidate SPK-RPE65 as treatment for nyctalopia in certain patients.

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Pfizer Inks Gene Therapy Partnership With Spark Therapeutics

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A short tour of the p-medicine ALGA-C Profiler
Visit http://www.ecancer.org for more The Personalized Medicine project is a 4 year long collaborative effort aimed at developing innovative tools to create ...

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Spinal cord injury assistance: help with housing issues
Returning home from hospital after your accident can be difficult. Your home will require major adaptations so that you can continue to live there freely and...

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Rehabilitation for people with Spinal Cord Injury
Rehabilitation is vital so that you can return, as much as possible, to independent living. And the sooner your rehabilitation begins, the better your recove...

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2014 WFIRM Summer Scholars
SENS Research Foundation sponsored four students to participate in the 2014 Wake Forest Institute for Regenerative Medicine (WFIRM) Summer Scholars Program. In this video, Ethan Bassin, Abigail.

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Researchers at The University of Queensland are part of a global team that has identified a new type of artificial stem cell.

UQ Associate Professor Christine Wells (right) said Project Grandiose had revealed it could track new ways to reprogram a normal adult cell, such as skin cells, into cells similar to those found in an early embryo.

The development is expected to help researchers explore ways to arrive at new cell types in the laboratory, with important implications for regenerative medicine and stem cell science.

Associate Professor Wells, who leads the Stemformatics stem cell research support unit at UQs Australian Institute for Bioengineering and Nanotechnology, said the project involved a consortium of 50 researchers from Canada, Australia, Korea, the USA and the Netherlands

We all come from just one cell the fertilised egg and this cell contains within its DNA a series of instruction manuals to make all of the many different types of cells that make up our body, AIBN Associate Professor Wells said.

These very early stage cells can now be made in the lab by reversing this process of development.

Our research reveals the new instructions imposed on a cell when this developmental process is reversed.

Project Grandiose is a large-scale research effort to understand what happens inside a cell as it reverts to an artificial stem cell.

The role of the Stemformatics.org group was to help the researchers have access to the vast information and data they generated from the project, Associate Professor Wells said.

Our online data platform is designed to let non-specialists view the genes involved and the many ways they are regulated during cell formation.

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New UQ platform aids stem cell research

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Professional athletes are getting injections of stem cells to speed up recovery from injury. Critics call it a high-tech placebo.

NFL quarterback Peyton Manning reportedly had a stem cell treatment to his neck in 2011.

Elite athletes do whatever it takes to win. Lately, thats meant getting an injection of their own stem cells.

The treatments, developed over the last eight years, typically involve extracting a small amount of a players fat or bone marrow and then injecting it into an injured joint or a strained tendon to encourage tissue regeneration. Bone marrow contains stem cells capable of generating new blood cells, cartilage, and bone.

Although the treatments have become a multimillion-dollar industry, some doctors say theres only thin medical evidence they actually speed healing. In a report issued last week, public policy researchers at Rice University criticized the National Football Leagues role in promoting unproven treatments to the public. Some players, including Peyton Manning of the Denver Broncos and Sidney Rice, whos now retired but won a Super Bowl with the Seattle Seahawks last year, have reportedly gone overseas for stem cell treatments and others have acted as spokespeople for U.S. clinics offering them.

The Rice researchers, Kirstin Matthews and Maude Cuchiara, say the NFL should create an independent panel and fund research on whether stem cell treatments actually work, similar to what it did after facing questions around concussions and brain injury. I think they should be more proactive. They should get ahead of this one, says Matthews.

Sports Illustrated reports that hundreds of football players have gotten stem cell treatments, with many travelling abroad for types of therapy not offered in the United States.But its not only football players trying them. The tennis player Rafael Nadal is reportedly undergoing stem cell treatments for back pain, and the injections are also being sought out by soccer players and high school athletes.

The NFL didnt respond to questions from MIT Technology Review. Doctors offering the treatments say theyre promising and should be given a chance. Others say theres not enough data. Any of these injections have a placebo effect, says Freddie Fu, an orthopedic surgeon who is chairman of sports medicine at the University of Pittsburgh Medical Center and top doctor for the schools sports teams. We dont know what we are putting in. We dont really know what exactly what it does, biologically.

Orthopedic surgeons hope one day to use stem cells to regenerate cartilage and other lost tissue. But wishful thinking, and profits, have gotten ahead of the facts, says Fu. Theres a lot of marketing in orthopedics right now. I would say 15 to 20 percent of treatments are not effective, he says.

Unlike a drug, which gets tested for years and is then weighed by experts and the U.S. Food and Drug Administration before hitting the market, the bone marrow treatments offered in the U.S. arent regulated.

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The NFL Has a Problem with Stem Cell Treatments

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TIME Health medicine This New Kind of Stem Cell May Revolutionize How We Treat Diseases Scientists have created a new type of stem cell that could speed treatments for diseases and make them safer

Ever since Japanese researcher Shinya Yamanaka found a way to treat skin cells with four genes and reprogram them back to their embryonic state, scientists have been buzzing over the promise of stem cell therapies. Stem cells can be coaxed to become any of the bodys cell types, so they could potentially replace diseased or missing cells in conditions such as diabetes or Alzheimers. And Yamanakas method also meant that these cells could be made from patients themselves, so they wouldnt trigger dangerous immune rejections.

Now scientists led by Dr. Andras Nagy at Mount Sinai Hospital Lunenfeld-Tannenbaum Research Institute in Toronto report an exciting new advance that could push stem cells even closer to the clinic. In a series of papers in the journals Nature and Nature Communications, the group describes a new class of stem cell, which they called F class, that they generated in the lab.

The F class cells, says Nagy, have a few advantages over the Yamanaka-generated induced pluripotent stem cells, or iPS cells. While the iPS cells are created by using viruses to introduce four genes that reprogram the cells, Nagys team relied on a technique they developed several years ago using transposonssmall pieces of DNA that can insert themselves into different parts of a genome. Unlike viruses, these transposons can be popped out of the genome if theyre no longer needed, and they dont carry the potential risk of viral infection.

MORE: Stem-Cell Research: The Quest Resumes

Nagys team found that the transposons were much more reliable vehicles for delivering the reprogramming genes exactly where they were needed to efficiently turn the clock back on the skin cells. Whats more, they could use the common antibiotic doxycycline to turn the four genes on and off; adding doxycycline to the cell culture would trigger the transposons to activate, thus turning on the genes, while removing the antibiotic would turn them off.

In this way, says Nagy, he was able to pump up the efficiency of the reprogramming process. Using the Yamanaka method, it was hit-or-miss whether the viruses would find their proper place in a cells genome, and more uncertainty over how effectively it could direct the cell to activate the four reprogramming genes. F class cells are much more similar [in the culture dish], like monozygotic twins while iPS cells are more like brothers and sisters, he says.

That consistency is a potential advantage of the transposon method, since any stem cell-based treatment would require a robust population of stem cells which can then be treated with the proper compounds to develop into insulin-making pancreatic cells to treat diabetes, or new nerve cells to replace dying ones in Alzheimers, or fresh heart muscle to substitute for scarred tissue after a heart attack.

MORE: Stem Cell Miracle? New Therapies May Cure Chronic Conditions like Alzheimers

Nagys team also described, with the most detail to date, exactly how mature cells like skin cells perform the ultimate molecular feat and become forever young again when exposed to the four genes. They analyzed the changes in the cells DNA, the proteins they made, and more. Its similar to high definition TV, he says. We see things much better with much more detail. We expect that having that high resolution characterization will allow us to better understand what is happening during this process at the molecular level. And obviously that better understanding is going to affect what we can do with these cells to make them better, safer and more efficient in cell-based treatments in the future.

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Nik Spencer/Nature

Eggs and sperm do it when they combine to make an embryo. John Gurdon did it in the 1960s, when he used intestinal cells from tadpoles to generate genetically identical frogs. Ian Wilmut did it too, when he used an adult mammalian cell to make Dolly the sheep in 1996. Reprogramming reverting differentiated cells back to an embryonic state, with the extraordinary ability to create all the cells in the body has been going on for a very long time.

Scientific interest in reprogramming rocketed after 2006, when scientists showed that adult mouse cells could be reprogrammed by the introduction of just four genes, creating what they called induced pluripotent stem (iPS) cells1. The method was simple enough for almost any lab to attempt, and now it accounts for more than a thousand papers per year. The hope is that pluripotent cells could be used to repair damaged or diseased tissue something that moved closer to reality this year, when retinal cells derived from iPS cells were transplanted into a woman with eye disease, marking the first time that reprogrammed cells were transplanted into humans (see Nature http://doi.org/xhz; 2004).

There is just one hitch. No one, not even the dozen or so groups of scientists who intensively study reprogramming, knows how it happens. They understand that differentiated cells go in, and pluripotent cells come out the other end, but what happens in between is one of biology's impenetrable black boxes. We're throwing everything we've got at it, says molecular biologist Knut Woltjen of the Center for iPS Cell Research and Application at Kyoto University in Japan. It's still a really confusing process. It's very complicated, what we're doing.

Kerri Smith talks to researcher Andras Nagy and reporter David Cyranoski about reprogramming cells.

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One of the problems, stem-cell biologists say, is that their starting population contains a mix of cells, each in a slightly different molecular state. And the process for making iPS cells is currently inefficient and variable: only a tiny fraction end up fully reprogrammed and even these may differ from one another in subtle but important ways. What is more, the path to reprogramming may vary depending on the conditions under which cells are being grown, and from one lab to the next. This makes it difficult to compare experimental results, and it raises safety concerns should a mix of poorly characterized cells be used in the clinic.

But new techniques are starting to clarify the picture. By carrying out meticulous analyses of single cells and amassing reams of detailed molecular data, biologists are identifying a number of essential events that take place en route to a reprogrammed state. This week, the biggest such project an international collaboration audaciously called Project Grandiose unveiled its results26. The scientists involved used a battery of tests to take fine-scale snapshots of every stage of reprogramming and in the process, revealed an alternative state of pluripotency. It was the first high-resolution analysis of change in cell state over time, says Andras Nagy, a stem-cell biologist at Mount Sinai Hospital in Toronto, Canada, who led the project. I'm not shy about saying grandiose.

I'm not shy about saying grandiose.

But there is more to do if scientists want to control the process well enough to generate therapeutic cells with ease. Yes, we can make iPS cells and yes we can differentiate them, but I think we feel that we do not control them enough says Jacob Hanna, a stem-cell biologist at the Weizmann Institute of Science in Rehovot, Israel. Controlling cell behaviour at will is very cool. And the way to do it is to understand their molecular biology with great detail.

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Stem cells: The black box of reprogramming

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Durham, NC (PRWEB) December 10, 2014

The medical world is excited about the potential that stem cells have demonstrated in aiding the recovery of patients who have suffered a heart attack. Now, a new study appearing in the January issue of STEM CELLS Translational Medicine indicates that stem cells may also benefit those who suffer from hardening of the arteries.

Hardening of the arteries or atherosclerosis occurs due to a buildup of fats, cholesterol and other substances in and on the artery walls. The arteries become hardened by fibrous tissue and calcification and, as the plaque grows, it clogs the artery tubes, reducing the oxygen and blood supply to the affected organ. If the artery becomes severely blocked, it can cause death of the tissue fed by the artery and lead to a heart attack or stroke.

Based on the success of mesenchymal stem cells (MSCs) in treating a heart attack, Shih-Chieh Hung, M.D, Ph.D., of the Department of Medical Research, Taipei Veterans General Hospital, Taiwan, led a team of researchers who wanted to learn if MSCs transplanted in a patient in the early stage of atherosclerosis might prevent the diseases development and/or progression. MSCs are stem cells that can be collected from many adult tissues and differentiate into various cell types, including cartilage, bone, tendons, muscle and skin.

The team began by examining the effects of MSCs on inhibiting atherosclerosis in human/mouse endothelial cells treated with oxidized low-density lipoprotein (oxLDL) in a lab dish. The endothelium is the thin layer of cells that lines the interior surface of blood vessels and lymphatic vessels, forming an interface between circulating blood and the rest of the vessel wall.

Then we moved on to see how they might affect live mice that had been fed a high-fat diet, Dr. Hung said. We found that the MSCs transplantation improved endothelial function and reduced the plaque formation in the lab cells as well as in the high fat-diet fed mice. This leads us to believe that MSCs might prove useful someday in treating atherosclerosis in human patients, he noted.

Dr. Hung said that the next step is to identify ways to maintain the beneficial effect of MSCs for a long time, as well as learn more about the complex mechanism underlying the MSCs transplantation in different stages of atherosclerosis.

This study was aimed at intervening in the early stages of disease development to prevent further progression, said Anthony Atala, M.D., editor of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine. It is the first study to show that in animals, stem cells can treat atherosclerosis by repairing the blood vessel lining.

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The article, Mesenchymal Stem Cells Ameliorate Atherosclerotic Lesions Via Restoring Endothelial Function, can be accessed online at http://www.stemcellsTM.com

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Stem Cells Show Promise in Reducing Hardening of the Arteries

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CALGARY New research from the University of Calgary may hold the key to restoring hair growth.

The findings, published in the scientific journal Developmental Cell this week, identify the existence of a skin stem cell in adult hair follicles that may one day be targeted to stimulate new hair growth after injury, burns, disease or aging.

The discovery is being called an important a step towards new hair loss treatments.

We hope that we can ultimately stimulate these cells with drugs to replenish or rejuvenate the cells that are responsible for inducing hair growth, says assistant professor in stem cell biology at the Faculty of Veterinary Medicine Jeff Biernaskie, PhD.

Hair follicles undergo a constant cycle of regeneration and degeneration, and Biernaskie wanted to identify the stem cells that oversee that cycle.

Biernaskies team discovered that a small number of dermal sheath cells could self-renew, and gave rise to hundreds of new cells in each hair follicle.

He says the discovery gives researchers a greater understanding of how hair follicles regenerate and it opens the door to creating therapies targeting stem cells to restore hair growth.

However, it could be a decade before such therapies are developed.

Biernaskies research holds hope for animals as well as humans.

Animals suffer skin diseases and injuries similar to people, and he says anything that improves the understanding of stem cells in healing and regeneration in people is also applicable to healing in animals.

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Major study: Professor Thomas Preiss from ANU JCSMR who has been involved in an international project researching stem cells. Photo: Graham Tidy

Scientists, including some from Canberra, have identified a new type of stem cell which is easier to grow and manipulate as part of a major study detailing the changes cells undergo as they reprogram into stem cells.

Experts from across the globe, including some from the Australian National University John Curtin School of Medical Research, have carried out the most detailed study of how specialised body cells can be reprogrammed to be like cells from the early embryo.

"The ultimate goal with this work is to develop therapies in regenerative medicine which is a therapeutic approach whereby you would ultimately replace cells or tissues or organs that are failing in a patient with replacement parts that are made in a laboratory from the patient's own cells or from genetically highly similar stem cells," Professor Thomas Preiss from ANU's JCSMR said.

Professor Preiss said it was hoped the research could help speed up the development of treatments for many illnesses and conditions.

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"There's a range of diseases where tissues are damaged or cells or lost. It ranges from neurodegenerative disease to spinal cord injuries, stroke, diabetes, blood and kidney diseases and ultimately perhaps even heart disease," he said.

"I'm not saying our publication immediately enables any of these therapies but we're working on the molecular basis of understanding the process of making cells that would be useful for this kind of therapy."

Fifty experts in stem cell biology and genomics technologies have been involved in Project Grandiose which mapped the detailed molecular process involved in the generation of induced pluripotent stem (iPS) cells.

Since the 2012 Nobel Prize winning discovery that body cells can in principle be coaxed to become iPS cells, there has been a surge in research to better understand iPS cell reprogramming.

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Researchers identify stem cells that can be reprogrammed

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Grupp: Chimeric T-Cell Therapy for Leukemia
Stephan Grupp, MD, briefly discusses recent findings on chimeric antigen t-cell receptors for pediatric leukemia at the American Society of Hematology 2014 meeting in San Francisco.

By: Cancer Therapy Advisor

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The Latest in Stem Cell Therapy
Dr. MIchael Belich of integrative Medical Clinics talks about the latest therapies using Stem Cells.

By: Integrative Medical Clinics

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MONDAY, Dec. 8, 2014 (HealthDay News) -- Some professional football players are seeking unproven stem cell therapies to speed their recovery from injuries. But experts are concerned that they may be unaware of the potential risks, a new report shows.

Stem cell therapy has attracted the attention of elite athletes. A number of National Football League (NFL) players have highlighted their use of those therapies and their successful recoveries.

Twelve NFL players are known to have received unapproved stem cell treatments since 2009.

"The online data on NFL players and the clinics where they obtained treatment suggest that players may be unaware of the risks they are taking," report co-author Kirstin Matthews, a fellow in science and technology policy at Rice University's Baker Institute for Public Policy, said in a university news release.

"Players who are official spokespersons for these clinics could influence others to view the therapies as safe and effective despite the lack of scientific research to support these claims," she added.

Most of the players receive treatment in the United States, but several have gone to other countries for stem cell therapies that aren't available in the United States.

"With the rise of new and unproven stem cell treatments, the NFL faces a daunting task of trying to better understand and regulate the use of these therapies in order to protect the health of its players," Matthews said.

The NFL and other sports leagues may need to evaluate and possibly regulate stem cell therapies in order to ensure the safety of their players, the report authors suggested.

The paper appears in a special supplement to the journal Stem Cells and Development.

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Some NFL Players Use Unproven Stem Cell Therapies: Report

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By Estel Grace Masangkay

Novartis revealed strong clinical data for its investigational chimeric antigen receptor (CAR) therapy CTL019 as treatment for relapsed/refractory acute lymphoblastic leukemia (r/r ALL).

CAR-T therapy reprograms the patients cells to hunt down cancer cells carrying the protein CD19. The reprogrammed T cell therapy, called CTL019, is re-introduced into the bloodstream to bind to and destroy the targeted cancer cells. Novartis has partnered with the University of Pennsylvania's Perelman School of Medicine (Penn) to develop CTL019, which has been granted Breakthrough Therapy Designation by the U.S. Food and Drug Administration (FDA) in July. The partners published results of the drugs initial study in The New England Journal of Medicine (NEJM).

The company reported that the results of the long-term study show 92 percent, or 36 out of 39 patients with r/rALL, experienced complete remission of their disease following treatment with CTL019. In addition, remissions were sustained for up to one year or more with a six-month event-free survival of 70 percent and overall survival of 75 percent. The study, which involved children and young adult patients, showed that most of the cases needed no further therapy. All patients who responded developed cytokine release syndrome (CRS) at peak T cell expansion, which was managed with an IL-6 receptor antagonist and other required treatments.

We're seeing pediatric patients who have not responded to any other therapy achieve complete remission as a result of treatment with CTL019. However, this is only the first step. Now that these patients have been followed for a longer period of time, we're seeing that a number of them remain in remission for one year or more. This leads me to believe the persistence and durability of CAR-modified cells may help protect against relapse, said lead investigator Dr. Stephan Grupp, the Yetta Deitch Novotny Professor of Pediatrics at Penn.

Usman Azam, Global Head of Cell & Gene Therapies Unit at Novartis Pharmaceuticals, said, When we see the response patients have to CTL019 when they have few options left, it's incredibly inspiring. Novartis will leverage our facility in Morris Plains and the multi-center study for CTL019 in collaboration with the University of Pennsylvania, to broaden the reach of this therapy to additional patients in the clinical setting.

Novartis will present the results at the upcoming 56th American Society of Hematology (ASH) annual meeting in San Francisco. The company said it will also include data on CTL019 as treatment for B cell cancers, chronic lymphocytic leukemia (CLL) and B cell non-Hodgkin lymphoma (NHL).

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Novartis Posts Positive CTL019 Data In r/r ALL

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10-Dec-2014

Contact: Paul Goldsmith paulg@broadinstitute.org 617-714-8600 Broad Institute of MIT and Harvard @broadinstitute

CAMBRIDGE, MA, December 10, 2014 - A team of investigators from the Broad Institute, Massachusetts General Hospital and other leading biomedical research institutions has pinpointed rare mutations in a gene called APOA5 that increase a person's risk of having a heart attack early in life. These mutations disable the APOA5 gene and also raise the levels in the blood of triglyceride-rich lipoproteins, a type of fat. The researchers' findings, together with other recent genetic discoveries -- specifically, the identification of protective mutations in the APOC3 gene that lower triglyceride levels and the risk of heart attack -- refocus attention on abnormal triglyceride metabolism as an important risk factor for heart attack at any age. The work -- the largest exome sequencing study yet published for any disease -- appears this week in the journal Nature.

"Our APOA5 result tells us that beyond LDL levels, which are well known to contribute to heart attack risk, abnormalities in triglyceride metabolism also play an important role," said Sekar Kathiresan, a senior author of the study, Broad associate member, and director of preventive cardiology at Massachusetts General Hospital. "This gives us an important window into the biology of the disease and also suggests potential new avenues for therapeutic development."

There are some striking parallels between Kathiresan's work and a similar study conducted over 40 years ago and published in 1973. That historic effort, which was led by Joseph Goldstein and his colleagues, examined several hundred people from Seattle, Washington who had suffered a heart attack before age 60. Looking at the levels of lipids in the blood, Goldstein and his team identified high total cholesterol levels as the major abnormality associated with early-onset heart attack. That work spurred decades of research trying to unravel the role of LDL, the major carrier of cholesterol in the bloodstream, in causing atherosclerosis -- the progressive accumulation of fatty material in blood vessel walls that can lead to a heart attack. It also led to a Nobel Prize for Goldstein and his colleague Michael Brown. Interestingly, in the seminal work from 1973, the second most common abnormality observed by Goldstein and his colleagues was elevated blood triglycerides.

In addition to underscoring the role of high triglycerides in heart attack risk, Kathiresan and his colleagues also found that harmful LDL receptor mutations are more prevalent than previously believed -- roughly twice as common than had been estimated in the Goldstein study.

"In 1973, Goldstein's work taught us what types of lipids in the blood are most important for early heart attack risk," said Kathiresan. "Now, after sequencing all of the genes in the genome, we can directly point to the specific genes that are most important. There is remarkable consistency between the observations from 40 years ago and today."

Heart attacks are extremely common. In the United States, someone suffers from one roughly every 34 seconds. Even though the condition is widespread, it tends to strike later in life. Only about 5 percent of people who suffer a heart attack do so at a relatively young age -- before age 50 for men and before age 60 for women. Tragically, the first sign of illness in this minority is often a devastating heart attack, inflicting significant damage to the heart and resulting in severe disability, even death.

Kathiresan has had a long-standing interest in the genetics of early-onset heart attack. In his current work, he and his colleagues conducted a large-scale, DNA sequencing-based study, focusing exclusively on the protein-coding portion of the genome, called the exome. They analyzed the exomes of roughly 10,000 people -- half of whom had suffered from an early heart attack and half who had not.

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Rare gene mutations raise risk of early heart attack

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10-Dec-2014

Contact: Sarah McDonnell s_mcd@mit.edu 617-253-8923 Massachusetts Institute of Technology @MIT

CAMBRIDGE, MA -- Using a gene-editing system originally developed to delete specific genes, MIT researchers have now shown that they can reliably turn on any gene of their choosing in living cells.

This new application for the CRISPR/Cas9 gene-editing system should allow scientists to more easily determine the function of individual genes, according to Feng Zhang, the W.M. Keck Career Development Professor in Biomedical Engineering in MIT's Departments of Brain and Cognitive Sciences and Biological Engineering, and a member of the Broad Institute and MIT's McGovern Institute for Brain Research.

This approach also enables rapid functional screens of the entire genome, allowing scientists to identify genes involved in particular diseases. In a study published in the Dec. 10 online edition of Nature, Zhang and colleagues identified several genes that help melanoma cells become resistant to a cancer drug.

Silvana Konermann, a graduate student in Zhang's lab, and Mark Brigham, a McGovern Institute postdoc, are the paper's lead authors.

A new function for CRISPR

The CRISPR system relies on cellular machinery that bacteria use to defend themselves from viral infection. Researchers have previously harnessed this cellular system to create gene-editing complexes that include a DNA-cutting enzyme called Cas9 bound to a short RNA guide strand that is programmed to bind to a specific genome sequence, telling Cas9 where to make its cut.

In the past two years, scientists have developed Cas9 as a tool for turning genes off or replacing them with a different version. In the new study, Zhang and colleagues engineered the Cas9 system to turn genes on, rather than knock them out.

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New way to turn genes on

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Genetic engineering essay

By: Brittany Erpestad

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Genetic engineering essay - Video

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Genomics researcher Alison Van Eenennaam, with Monsanto's Robert Fraley, argues that genetically modified foods have increased farmers' yields and profits around the world. Samuel LaHoz/Intelligence Squared U.S. hide caption

Genomics researcher Alison Van Eenennaam, with Monsanto's Robert Fraley, argues that genetically modified foods have increased farmers' yields and profits around the world.

Many plants we eat today are a result of genetic modifications that would never occur in nature. Scientists have long been altering the genes of food crops, to boost food production and to make crops more pest-, drought- and cold-resistant.

Proponents of genetically modified organisms, or GMOs, say that farmers who grow these crops are able to use fewer environmentally damaging pesticides. The increased yields of GMO crops, they also argue, are essential to feeding the world's growing population. And proponents say that numerous studies have shown that genetically modified foods are safe to eat.

Critics, however, say the claims of those benefits are overblown. They say farmers growing GMO crops have actually increased their use of herbicides. And widespread use of the crops, they say, have also led to an increase in herbicide- and pesticide-resistant weeds and insects. And, they argue, there is still no scientific consensus on the long-term safety of these foods.

Four scientists recently took on those questions in an Intelligence Squared U.S. debate, facing off two against two on the motion, "Genetically Modify Food." In these Oxford-style debates, the team that sways the most people to its side by the end is the winner.

Before the debate, the audience at the Kaufman Music Center in New York voted 32 percent in favor of the motion, with 30 percent against and 38 percent undecided. Afterward, 60 percent agreed with the motion, and 31 percent disagreed making the side arguing in favor of the motion the winners of this debate.

Those debating:

FOR THE MOTION

Robert Fraley is executive vice president and chief technology officer at Monsanto, where he has worked for more than 30 years. He currently oversees the company's global technology division which includes plant breeding, biotechnology and crop protection research facilities in dozens of countries. Fraley has authored more than 100 publications and patent applications. In 2013, he was honored as a World Food Prize Laureate and is the recipient of numerous awards, including the 2008 National Academy of Sciences Award for the Industrial Application of Science for his work on crop improvement and the National Medal of Technology from President Clinton in 1999.

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Debate: Should We Genetically Modify Food?

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PUBLIC RELEASE DATE:

10-Dec-2014

Contact: Shawna Williams shawna@jhmi.edu 410-955-8236 Johns Hopkins Medicine @HopkinsMedicine

While many different combinations of genetic traits can cause autism, brains affected by autism share a pattern of ramped-up immune responses, an analysis of data from autopsied human brains reveals. The study, a collaborative effort between Johns Hopkins and the University of Alabama at Birmingham, included data from 72 autism and control brains. It will be published online Dec. 10 in the journal Nature Communications.

"There are many different ways of getting autism, but we found that they all have the same downstream effect," says Dan Arking, Ph.D. , an associate professor in the McKusick-Nathans Institute for Genetic Medicine at the Johns Hopkins University School of Medicine. "What we don't know is whether this immune response is making things better in the short term and worse in the long term."

The causes of autism, also known as autistic spectrum disorder, remain largely unknown and are a frequent research topic for geneticists and neuroscientists. But Arking had noticed that for autism, studies of whether and how much genes were being used -- known as gene expression -- had thus far involved too little data to draw many useful conclusions. That's because unlike a genetic test, which can be done using nearly any cells in the body, gene expression testing has to be performed on the specific tissue of interest -- in this case, brains that could only be obtained through autopsies.

To combat this problem, Arking and his colleagues analyzed gene expression in samples from two different tissue banks, comparing gene expression in people with autism to that in controls without the condition. All told, they analyzed data from 104 brain samples from 72 individuals -- the largest data set so far for a study of gene expression in autism.

Previous studies had identified autism-associated abnormalities in cells that support neurons in the brain and spinal cord. In this study, Arking says, the research team was able to narrow in on a specific type of support cell known as a microglial cell, which polices the brain for pathogens and other threats. In the autism brains, the microglia appeared to be perpetually activated, with their genes for inflammation responses turned on. "This type of inflammation is not well understood, but it highlights the lack of current understanding about how innate immunity controls neural circuits," says Andrew West, Ph.D., an associate professor of neurology at the University of Alabama at Birmingham who was involved in the study.

Arking notes that, given the known genetic contributors to autism, inflammation is unlikely to be its root cause. Rather, he says, "This is a downstream consequence of upstream gene mutation." The next step, he says, would be to find out whether treating the inflammation could ameliorate symptoms of autism.

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