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The mission of the department is to provide basic and applied genetic/genomic research, education and training at the interface between biology, chemistry, physics, computer science, mathematics, the social sciences, public health and medicine in order to have a profound effect on how medicine will be practiced in the future.

Our graduate programs train students to be creative, sophisticated research scientists prepared to pursue careers focused in genetics and genomics working in academic science, government, or commercial positions. Students conduct their dissertation research using diverse experimental approaches - from classical genetics to the most modern molecular methods - to address a broad range of contemporary problems in biomedical science.

The Department also includes a clinical arm focused on medical genetics, which covers the broad spectrum of clinical genetic research from disease prevention to diagnosis and treatment. This specialty includes evaluation, mutation discovery, counseling and risk assessment through analysis and genetic testing. Locating the clinical group alongside basic scientists facilitates integration of cutting edge genetic research with patient care.

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Cutting edge companies often walk a tightrope between regulators trying to keep their technologies under control and marketers trying to push them out to consumers as fast as possible.

That's where a Silicon Valley company named 23andMe is today. The Mountain View, Calif., firm has been hawking genetic tests for you to take at home. You spit into a receptacle and ship your saliva back to the company so it can analyze your DNA for a mere $99. Eventually you get a readout detailing your genetic susceptibility to hundreds of diseases.

At least, that used to be the case. At the end of November, regulators at the Food and Drug Administration instructed the firm to shut down its genetic analysis service, declaring with plenty of justification that the company's marketing claims were running well beyond what was valid, or legal. The service fell within the legal definition of a medical diagnostic device, the agency said, and demanded data demonstrating the tests' technical validity. It warned 23andMe to ratchet back its marketing claims for the service, which it said requires agency approval before it can be sold to consumers "as FDA has explained to you on numerous occasions," the agency said.

The company will still send customers their raw genetic data and an analysis of what it says about their "ancestry," but it has stopped issuing disease-risk analyses until it gets right with the FDA. Customers who ordered their tests on or after the date of the FDA's warning letter, Nov. 22, can get a refund.

Personal genetic testing has been building toward a craze for some time, as evidence mounts that certain genes or mutations can affect individuals' health profiles. Consumer interest often spikes with news events: Anne Wojcicki, the founder and CEO of 23andMe, says inquiries poured into her office in May, after actress Angelina Jolie disclosed that she'd undergone a precautionary double mastectomy upon learning she carried a gene that predisposed her to breast cancer.

23andMe the firm's name derives from the number of chromosome pairs in the human cell has become the best-known company in the field for a couple of reasons. One is the unique pizazz of its corporate pedigree. It's backed by Google, whose co-founder Sergey Brin is Wojcicki's husband. (They separated earlier this year.)

Another reason is its aggressive national advertising, for which it budgeted $5 million for 2013 alone. But that was before the FDA swooped down; the TV ads have been taken off the company's YouTube channel.

The problem with the service provided by 23andMe and its competitors and the root of the FDA's concern is that raw genetic information is very hard for a lay person to interpret. "The technology is just not ready for prime time," says David B. Agus, a USC cancer specialist who co-founded Navigenics to market professional genetic testing services.

Agus says test interpretation should be done by physicians or trained genetics counselors. "Medicine is lots of shades of gray, so you need discussion with someone who's trained in the field," he says. Agus says he has no financial interest in Life Technologies, which acquired Navigenics in 2012, though he sometimes offers the company unpaid advice.

The reports issued by 23andMe prior to the FDA letter typically included pages of qualifications of the genetic results for every health issue, followed by a broad disclaimer stating that the information "is intended for research and educational purposes only, and is not for diagnostic use."

Originally posted here:
23andMe's genetic tests are more misleading than helpful

Introduction to Mendelian Genetics

By: BioEd Online

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Introduction to Mendelian Genetics - Video

Gene therapy using adeno virus
This gene therapy video tutorial is to explain the method of gene therapy using adeno virus vector to cure genetic diseases. For more information, log on to-...

By: Suman Bhattacharjee

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Gene therapy using adeno virus - Video

MCB 436 - Gene Therapy PSA
Gene Therapy PSA MCB 436 Global Biosecurity.

By: nemeh72

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MCB 436 - Gene Therapy PSA - Video

Poway, California (PRWEB) December 13, 2013

Noni is a ten-year-old released Canine Companion for Independence dog who just achieved her Master Agility Champion status after the pain from arthritis tried to slow her down. Nonis owner, Dr. Kim Dembinski, a veterinarian at Paradise Veterinary Hospital in San Diego turned to stem cell therapy by Vet-Stem, Inc. and fellow colleague Dr. Jennipher Harris to help Noni.

When Dr. Dembinski noticed weakness and discomfort in her aging agility dog she was proactive in keeping Noni happy and comfortable, The main thought was that she gives so much between therapy work, being my best friend, and as the clinic mascot that giving her relief from pain and her being more comfortable was the least I could do for her.

Nonis stem cell therapy involved a small fat sample collection, which was brought to Vet-Stems lab in Poway, California. There, highly trained lab technicians processed Nonis fat tissue to isolate the stem cells into doses that could be injected into the arthritic joints that were causing her pain. Normally the tissue is shipped overnight to Vet-Stem and the cells are shipped overnight back to the veterinarian making doses available within 48 hours, but because Paradise Veterinary Hospital is located near Vet-Stem Nonis stem cell doses were available for injection the same day the fat sample was collected.

Noni did very well post procedure; she regained muscle strength and flexibility, Dr. Dembinski reported, Noni did four weeks of rehab then went right back to competing in agility. Six months after the procedure she earned her MACH (Master Agility Champion), AKC (American Kennel Club) title. Because of her stem cell therapy she is still comfortable and playing agility!

Dr. Dembinski is a general practitioner for pets including dogs, cats, small mammals, birds and exotics. She is currently owner and primary veterinarian at Paradise Veterinary Hospital and sits on the board of the San Diego County Veterinary Medical Association. Caring for animals is not just a job for Dr. Dembinski, it is a passion. In her free time she and Noni compete in dog agility trials with AKC, North American Dog Agility Council and Canine Performance Events.

About Vet-Stem, Inc. Vet-Stem, Inc. was formed in 2002 to bring regenerative medicine to the veterinary profession. The privately held company is working to develop therapies in veterinary medicine that apply regenerative technologies while utilizing the natural healing properties inherent in all animals. As the first company in the United States to provide an adipose-derived stem cell service to veterinarians for their patients, Vet-Stem, Inc. pioneered the use of regenerative stem cells in veterinary medicine. The company holds exclusive licenses to over 50 patents including world-wide veterinary rights for use of adipose derived stem cells. In the last decade over 10,000 animals have been treated using Vet-Stem, Inc.s services, and Vet-Stem is actively investigating stem cell therapy for immune-mediated and inflammatory disease, as well as organ disease and failure. For more on Vet-Stem, Inc. and Veterinary Regenerative Medicine visit http://www.vet-stem.com or call 858-748-2004.

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San Diego Canine Overcomes Pain to Achieve Championship with the Help of Paradise Veterinary Hospital and Vet-Stem, Inc.

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12-Dec-2013

Contact: Shaun Mason smason@mednet.ucla.edu 310-206-2805 University of California - Los Angeles

Stem cell researchers from UCLA have published the first study to identify the origin cells and track the early development of human articular cartilage, providing what could be a new cell source and biological roadmap for therapies to repair cartilage defects and damage from osteoarthritis.

Such transformative therapies could reach clinical trials within three years, said the scientists from UCLA's Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research.

The study, led by Dr. Denis Evseenko, an assistant professor of orthopedic surgery and head of UCLA's Laboratory of Connective Tissue Regeneration, was published online Dec. 12 in the journal Stem Cell Reports and will appear in a forthcoming print edition.

Articular cartilage, a highly specialized tissue formed from cells called chondrocytes, protects the bones of joints from forces associated with load-bearing and impact and allows nearly frictionless motion between the articular surfaces the areas where bone connects with other bones in a joint.

Cartilage injury and a lack of cartilage regeneration often lead to osteoarthritis, which involves the degradation of joints, including cartilage and bone. Osteoarthritis currently affects more than 20 million people in the U.S., making joint-surface restoration a major priority in modern medicine.

While scientists have studied the ability of different cell types to generate articular cartilage, none of the current cell-based repair strategies including expanded articular chondrocytes or mesenchymal stromal cells from adult bone marrow, adipose tissue, sinovium or amniotic fluid have generated long-lasting articular cartilage tissue in the laboratory.

For the current study, Evseenko and his colleagues used complex molecular biology techniques to determine which cells grown from embryonic stem cells, which can become any cell type in the body, were the progenitors of cartilage cells, or chondrocytes. They then tested and confirmed the growth of these progenitor cells into cartilage cells and monitored their growth progress, observing and recording important genetic features, or landmarks, that indicated the growth stages of these cells as they developed into the cartilage cells.

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UCLA stem cell scientists first to track joint cartilage development in humans

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Newswise RNA interference (RNAi) is a regulatory mechanism that occurs naturally within cells. Short pieces of RNA (so-called hairpins) interfere with transcribed genetic information to silence genes. RNAi was originally discovered in plants in 1990, and in 2001 was also found in mammals. Right from its discovery, RNAi has inspired scientists to utilize the new mechanism for the development of experimental gene suppression tools. Beyond many applications in basic biological research, RNAi has become a unique method to identify and study therapeutic target genes. However, despite their enormous potential, currently available RNAi reagents are often ineffective or come along with unspecific side-effects.

Inspired by nature

Johannes Zuber and his colleague Christof Fellmann came up with ideas how to improve RNAi technology back in 2010, when both were still working at Cold Spring Harbor Laboratory (CSHL) in the US. The basic principles of RNAi are not yet fully understood. To shut off a specific gene, one has to test many hairpin molecules, and often only one out of ten will be effective enough. To improve the method, we took nature as an example, Zuber explains their line of thought. He finally took the project to the IMP, while Fellmann continued his scientific career at Mirimus, a CSHL-based biotech company developing advanced RNAi technologies.

A particularly powerful and commonly used RNAi method is based on embedding synthetic hairpin sequences into naturally occurring micro-RNA backbones. The result is an RNA-construct that mimics nature and is processed by normal cellular pathways. However, the performance of existing reagents designed this way remains far from perfect.

Zuber and his team analyzed a human micro-RNA backbone, focusing on sequence parts that remained unchanged during evolution a sign that they may have important functions. The scientists realized that some of these sequences had been altered in the commonly used synthetic RNAi backbone. By correcting these differences and systematically testing many design variants, Zuber and his team managed to greatly improve the effectiveness of the synthetic RNAi tool.

Upgrade from a Beetle to a Lamborghini

The benefit for science is tremendous Zuber points out the relevance of his results. While current methods involve testing up to twenty hairpins to strongly suppress a given gene, the optimized reagents cut down the number to an average of four. Moreover, in high-throughput screening studies it will be easier to nominate positive hits and interpret negative results.

We are taking the technology from a molecular Beetle to a Lamborghini Zuber draws an analogy. The upgrade is simple and existing reagents can be adapted with minimal effort. Zuber and his co-workers at the IMP provide the new method and reagents - an entire toolbox for effective RNAi, as he calls it - to the scientific community. Cooperation partners and colleagues at the IMP who have already tested these new reagents are fully convinced of the benefits.

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A Molecular Toolkit for Gene Silencing

Dec. 5, 2013 In most cases, human gene transfer research is no longer novel or controversial enough to require additional review from the National Institutes of Health's Recombinant DNA Advisory Committee, known as RAC, says a new report by the Institute of Medicine.Patient safety is always paramount, the report says, but most individual RAC reviews no longer provide benefits beyond the existing regulatory and oversight framework and may be impeding scientific advancement with unnecessary administrative burdens.

However, NIH should consider developing a process -- using RAC as a model -- to rigorously review research on humans in any scientific realm that uses applications from emerging technologies or techniques that pose unknown or significant risks.

"The government's role in research must be, first and foremost, to safeguard the rights, dignity, and health of human subjects, while also facilitating vital scientific research to prevent and treat major health threats," said Lawrence O. Gostin, university professor at Georgetown University Law Center and chair of the committee that wrote the report. "The RAC has instilled public confidence in an area of research that was once deeply controversial, and the RAC model could serve as a method for transparent engagement and review of any novel scientific research that poses unknown or heightened risk."

Human gene transfer research involves the introduction of genetic material into a human subject for diagnostic or therapeutic purposes.Individual gene transfer research protocols -- extensive written research plans -- currently must be reviewed by the U.S. Food and Drug Administration as well as by multiple oversight bodies at individual research institutions.Each protocol for NIH-funded research is also reviewed by RAC, which then selects a small number of potentially controversial or novel research protocols for further oversight and public review. The RAC no longer directly regulates human gene transfer research but instead advises NIH on protocols and provides a public forum for discussing scientific, technical, and ethical considerations.

Since RAC was formed in the 1970s, decades of extensive clinical and research experience have helped alleviate many of the initial concerns about human gene transfer research.Hundreds of clinical trials -- predominantly Phase I clinical trials designed to evaluate safety -- have been completed and much has been learned about how to ensure the safety of research participants.In addition, the promise of more effective treatments for devastating and debilitating diseases has increased the public's positive perceptions of this research.

RAC should only review individual research protocols in exceptional cases, the committee concluded. The report identifies specific criteria that a research protocol should meet before it is determined to require RAC review, such as when a new vector, genetic material, or delivery method is first used on human subjects, and when protocols cannot be adequately reviewed by other oversight and regulatory bodies.The NIH director should consult with other regulatory and oversight authorities to determine whether RAC review is warranted.But even if proposed research doesn't meet these criteria, the director should have the flexibility to select research protocols for RAC review that may present significant societal or ethical concerns.

In addition to gene transfer, other emerging technologies to be used in human research, such as nanotechnology, could benefit from public discussion and oversight, the report says.The NIH director should convene an ad hoc working group to consider whether providing oversight and a venue for public deliberation similar to RAC for research on humans involving other emerging applications is needed.The report notes that such oversight and review should focus only on cases that have generated significant public concern or that fall outside existing regulatory capacities.

Access to the report can be found at: http://www.nap.edu/catalog.php?record_id=18577

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New IOM report assesses oversight of clinical gene transfer protocols

Dec. 12, 2013 A newly improved internet research tool is helping cancer researchers and physicians make sense out of a deluge of genetic data from nearly 100,000 patients and more than 50,000 mice.

The tool, called the Gene Expression Barcode 3.0, is proving to be a vital resource in the new era of personalized medicine, in which cancer treatments are tailored to the genetic makeup of an individual patient's tumor.

Significant new improvements in the Gene Expression Barcode 3.0 are reported in the January issue of the journal Nucleic Acids Research, published online ahead of print. Senior author is Michael J. Zilliox of Loyola University Chicago Stritch School of Medicine. Zilliox is co-inventor of the Gene Expression Barcode.

"The tool has two main advantages," Zilliox said. "It's fast and it's free." The Gene Expression Barcode is available at a website http://barcode.luhs.org/ designed and hosted by Loyola University Chicago Stritch School of Medicine. The website is receiving 1,600 unique visitors per month.

Knowing how a patient's cancer genes are expressed can help a physician devise an individualized treatment. In a tumor cell, for example, certain genes are turned on (expressed) while other genes are turned off (unexpressed). Also, different types of cancer cells have different patterns of gene expression. Genes are expressed through RNA, a nucleic acid that acts as a messenger to carry out instructions from DNA for making proteins.

Research institutions have made public genetic data from nearly 100,000 patients, most of whom had cancer, and more than 50,000 laboratory mice. In raw form, however, these data are too unwieldy to be of much practical use for most researchers. The Gene Expression Barcode applies advanced statistical techniques to make this mass of data much more user-friendly to researchers.

The barcode algorithm is designed to estimate which genes are expressed and which are unexpressed. Like a supermarket barcode, the Gene Expression Barcode is binary, meaning it consists of ones and zeros -- the expressed genes are ones and the unexpressed genes are zeroes.

Zilliox co-invented the Gene Expression Barcode, along with Rafael Irizarry, PhD. (At the time, Zilliox and Irizarry were at Johns Hopkins University.) Zilliox joined Loyola in 2012, and Irizarry now is at the Dana Farber Cancer Institute. Zilliox and Irizarry first reported the Gene Expression Barcode in 2007. In 2011, they reported an improved 2.0 version. The Barcode already has been cited in more than 120 scientific papers, and the new 3.0 version will make it even easier and faster for researchers to use, Zilliox said.

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Helping cancer researchers make sense of deluge of genetic data

Rajeev Saini MD, recently passed the American Board of Obesity Medicine Certification Exam for Obesity Medicine Physicians and became certified in the subspecialty of obesity medicine.

Physicians certified in obesity medicine are able to positively impact all systems of the body by incorporating weight management into traditional models of medical practice. Specifically, this subspecialty requires competency in and a thorough understanding of the treatment of obesity and the genetic, biologic, environmental, social and behavioral factors that contribute to obesity.

Rajeev Saini

Dr. Saini was among only 191 physicians nationally who successfully completed this years exam.

According to the Centers for Disease Control and Prevention, more than one-third of adults and 17 percent of children and adolescents in this country are obese. Obesity-related conditions include heart disease, stroke, type 2 diabetes and certain types of cancer. In 2008, medical costs associated with obesity were estimated at $147 billion.

Supervision from a health care provider is necessary to detect and treat weight-related medical conditions, Dr. Saini said. A healthcare program supervised by a physician, certified in obesity medicine offers a comprehensive and effective approach to maximizing overall health and reversing obesity-related co-morbidities.

In New York State, the prevalence of adult obesity is about 25 percent. said Dr. Saini. I am interested in being part of the solution to this medical epidemic by locally helping patients affected by obesity who seek access to non-surgical treatment options. It is amazing to see as people lose weight, we are able to cut down or even stop their medications for various medical conditions like diabetes, hypertension, hyperlipidemia, etc.

Patients and their health care providers need a variety of options for obesity treatments, since no single treatment approach will work for every individual. The American Society of Bariatric Physicians provides guidance to its members through a set of obesity medicine guidelines, which outline four medical weight-loss methods: dietary modification, exercise prescription, behavior modification and, when appropriate, medication.

Dr. Saini has been in practice for the last 17 years. He is board certified in Internal Medicine and has offices in Fulton and Baldwinsville. He went to medical school at AIIMS, India and did his residency in Internal Medicine at Upstate Medical University.

Since its founding in January 2012, ABOM has sought to further the accreditation of a sub-specialization of medical practice: obesity medicine.

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Local Physician Earns Certification In Obesity Medicine

PUBLIC RELEASE DATE:

13-Dec-2013

Contact: Emma Rayner emma.rayner@nottingham.ac.uk 44-011-595-15793 University of Nottingham

A research team from The University of Nottingham has helped uncover a second rare genetic mutation which strongly increases the risk of Alzheimer's disease in later life.

In an international collaboration, the University's Translational Cell Sciences Human Genetics research group has pinpointed a rare coding variation in the Phospholipase D3 (PLD3) gene which is more common in people with late-onset Alzheimer's than non-sufferers.

The discovery is an important milestone on the road to early diagnosis of the disease and eventual improved treatment. Having surveyed the human genome for common variants associated with Alzheimer's, geneticists are now turning the spotlight on rare mutations which may be even stronger risk factors.

More than 820,000 people in the UK have dementia and the number is rising as the population ages. The condition, of which Alzheimer's disease is the predominant cause, costs the UK economy 23 billion per year, much more than other diseases like cancer and heart disease.

Nottingham's genetic experts have been working with long-term partners from Washington University, St Louis, USA and University College, London, to carry out next-generation whole exome sequencing on families where Alzheimer's affects several members.

Earlier this year the collaboration uncovered the first ever rare genetic mutation implicated in disease risk, linking the TREM2 gene to a higher risk of Alzheimer's (published in the New England Journal of Medicine). Now, in a new study published today in the international journal, Nature, the team reveal that after analysis of the genes of around 2,000 people with Alzheimer's, a second genetic variation has been found, in the PLD3 gene.

PLD3 influences processing of amyloid precursor protein which results in the generation of the characteristic amyloid plaques seen in AD brain tissue, suggesting that it may be a potential therapeutic target.

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New gene discovery sheds more light on Alzheimer's risk

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Newswise BETHESDA, MD December 13, 2013 The Genetics Society of America (GSA) is pleased to announce the selection of eleven early career researchers five graduate students and six postdoctoral researchers as recipients of a spring 2014 DeLill Nasser Award for Professional Development in Genetics. The award is a $1,000 travel grant for each researcher to attend any national or international meeting, conference or laboratory course that will enhance his or her career.

GSA is always honored to present the DeLill Nasser Awards because they are about promoting the future of our discipline, said Adam Fagen, PhD, Executive Director of GSA. Attending scientific conferences and courses is an essential element of practicing science, and we are glad to play a role in fostering the professional development of some of our most promising early career members.

The DeLill Nasser Award was established by GSA in 2001 to honor its namesake, DeLill Nasser (19292000), a long-time GSA member who provided critical support to many early career researchers during her 22 years as program director in eukaryotic genetics at the National Science Foundation. Since the formation of this award, over 100 graduate students and postdocs have received funding for travel to further their career goals and enhance their education. The program is supported by GSA, and with charitable donations from members of the genetics community.

The eleven recipients of the spring 2014 DeLill Nasser Awards, their institutions, the conference or course each intends to attend, and a brief summary of their research is listed below.

PLEASE NOTE: a full media release complete with pictures is available here.

Graduate Students:

Yang Cao University of WisconsinMadison, Madison, WI GSA 55th Annual Drosophila Research Conference March 2630, 2014, San Diego, CA I am investigating two fundamental neurobiological processes, synaptic development and neuroprotection, using Drosophila as an animal model.

Huan Chen Columbia University Medical Center, New York, NY Mechanisms of Recombination Meeting May 1923, 2014, Alicante, SPAIN I am studying the molecular mechanism of DNA double-strand break repair and genome integrity in eukaryotes.

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Genetics Society of America Announces Recipients of Spring 2014 DeLill Nasser Award for Professional Development

PUBLIC RELEASE DATE:

13-Dec-2013

Contact: Beth Ruedi eruedi@genetics-gsa.org 301-634-7371 Genetics Society of America

BETHESDA, MD December 13, 2013 The Genetics Society of America (GSA) is pleased to announce the selection of eleven early career researchers five graduate students and six postdoctoral researchers as recipients of a spring 2014 DeLill Nasser Award for Professional Development in Genetics. The award is a $1,000 travel grant for each researcher to attend any national or international meeting, conference or laboratory course that will enhance his or her career.

"GSA is always honored to present the DeLill Nasser Awards because they are about promoting the future of our discipline," said Adam Fagen, PhD, Executive Director of GSA. "Attending scientific conferences and courses is an essential element of practicing science, and we are glad to play a role in fostering the professional development of some of our most promising early career members."

The DeLill Nasser Award was established by GSA in 2001 to honor its namesake, DeLill Nasser (1929-2000), a long-time GSA member who provided critical support to many early career researchers during her 22 years as program director in eukaryotic genetics at the National Science Foundation. Since the formation of this award, over 100 graduate students and postdocs have received funding for travel to further their career goals and enhance their education. The program is supported by GSA, and with charitable donations from members of the genetics community.

The eleven recipients of the spring 2014 DeLill Nasser Awards, their institutions, the conference or course each intends to attend, and a brief summary of their research is listed below.

Graduate Students:

Yang Cao University of WisconsinMadison, Madison, WI GSA 55th Annual Drosophila Research Conference March 26-30, 2014, San Diego, CA "I am investigating two fundamental neurobiological processes, synaptic development and neuroprotection, using Drosophila as an animal model."

Huan Chen Columbia University Medical Center, New York, NY Mechanisms of Recombination Meeting May 19-23, 2014, Alicante, SPAIN "I am studying the molecular mechanism of DNA double-strand break repair and genome integrity in eukaryotes."

Originally posted here:
Genetics Society of America announces recipients of spring 2014 DeLill Nasser Award

In one of the biggest advances against leukemia and other blood cancers in many years, doctors are reporting unprecedented success by using gene therapy to transform patients blood cells into soldiers that seek and destroy cancer.

A few patients with one type of leukemia were given this one-time, experimental therapy several years ago and some remain cancer-free today. Now, at least six research groups have treated more than 120 patients with many types of blood and bone marrow cancers, with stunning results.

Its really exciting, said Dr. Janis Abkowitz, blood diseases chief at the University of Washington in Seattle and president of the American Society of Hematology. You can take a cell that belongs to a patient and engineer it to be an attack cell.

In one study, all five adults and 19 of 22 children with acute lymphocytic leukemia, or ALL, had a complete remission, meaning no cancer could be found after treatment, although a few have relapsed since then.

These were gravely ill patients out of options. Some had tried multiple bone marrow transplants and up to 10 types of chemotherapy or other treatments.

Cancer was so advanced in 8-year-old Emily Whitehead of Philipsburg, Pa., that doctors said her major organs would fail within days. She was the first child given the gene therapy and shows no sign of cancer today, nearly two years later.

Emily Whitehead, 8, 20 months after T Cell Therapy treatment in Philadelphia.Photo: AP

Results on other patients with myeloma, lymphoma and chronic lymphocytic leukemia, or CLL, will be reported at the hematology groups conference that starts Saturday in New Orleans.

Doctors say this has the potential to become the first gene therapy approved in the United States and the first for cancer worldwide. Only one gene therapy is approved in Europe, for a rare metabolic disease.

The treatment involves filtering patients blood to remove millions of white blood cells called T-cells, altering them in the lab to contain a gene that targets cancer, and returning them to the patient in infusions over three days.

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Leukemia patients in complete remission after gene therapy

T Cell Therapy for Acute Lymphoblastic Leukemia: Results as of November 2013
CTL019 is a clinical trial of T cell therapy for patients with B cell cancers such as acute lymphoblastic leukemia (ALL), B cell non-Hodgkin lymphoma (NHL), ...

By: ChildrensHospPhila

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T Cell Therapy for Acute Lymphoblastic Leukemia: Results as of November 2013 - Video

Californias government-run stem-cell research agency, on course to spend $3 billion in taxpayer money to find treatments for some of the worlds most intractable diseases, is pushing to accelerate human testing before its financing runs out.

For the California Institute for Regenerative Medicine, time is growing short to fund research that demonstrates the potential of stem cells to help treat everything from cancer to heart disease to spinal cord injuries.

The agency, created by voters in 2004, has given out more than half of its $3 billion from state bonds and must spend the rest by 2017. The largest U.S. funding source for stem-cell research outside the federal government, its under pressure to show results to attract new money from pharmaceutical companies, venture capitalists or even more municipal bonds.

We need to figure out how to keep them going, said Jonathan Thomas, a founding partner of Saybrook Capital LLC in Los Angeles, and chairman of the institutes board, which meets today. We could do public-private partnerships, venture philanthropy, a ballot box.

Embryonic stem cells have the potential to change into any type of cell in the body. They are among the first cells created in embryos after conception. Scientists hope they may replace damaged or missing tissue in the brain, heart and immune system.

California voters approved the bonds after President George W. Bush banned the use of federal funds for research on embryonic stem cells. Since then, other types of stem cells have been shown to act like embryonic cells, relieving some of the debate over the ethics of destroying human embryos to use the cells.

The agencys funding decisions have included a grant of $20 million to a team led by Irv Weissman at the Stanford University School of Medicine, seeking a cure for cancer.

Weissmans team is working on an antibody manufactured with stem cells that allows a cancer patients own immune system to destroy a tumor, instead of relying on toxic radiation or chemotherapy. The antibody counteracts a protein called CD47, which creates what scientists call a dont eat me shield around the cancer. Once that cloak is removed, the patients immune system recognizes the cancer and attacks the tumor, shrinking or eliminating it.

Tests on humans are to begin early next year. The antibody has already worked in mice against breast, colon, ovarian, prostate, brain, bladder and liver cancer.

Two other research projects funded by the California agency are in human trials now -- one targeting HIV, the virus that causes AIDS, and another that regrows cardiac tissue in heart-attack victims.

Excerpt from:
California’s Stem-Cell Quest Races Time as Money Dwindles

Dec. 11, 2013 Muscle cell therapy to treat some degenerative diseases, including Muscular Dystrophy, could be a more realistic clinical possibility, now that scientists have found a way to isolate muscle cells from embryonic tissue.

PhD Student Bianca Borchin and Associate Professor Tiziano Barberi from the Australian Regenerative Medicine Institute (ARMI) at Monash University have developed a method to generate skeletal muscle cells, paving the way for future applications in regenerative medicine.

Scientists, for the first time, have found a way to isolate muscle precursor cells from pluripotent stem cells using a purification technique that allows them to differentiate further into muscle cells, providing a platform to test new drugs on human tissue in the lab. Pluripotent stem cells have the ability to become any cell in the human body including, skin, blood, brain matter and skeletal muscles that control movement.

Once the stem cells have begun to differentiate, the challenge for researchers is to control the process and produce only the desired, specific cells. By successfully controlling this process, scientists could provide a variety of specialised cells for replacement in the treatment of a variety of degenerative diseases such as Muscular Dystrophy and Parkinson's disease.

"There is an urgent need to find a source of muscle cells that could be used to replace the defective muscle fibers in degenerative disease. Pluripotent stem cells could be the source of these muscle cells," Professor Barberi said.

"Beyond obtaining muscle from pluripotent stem cells, we also found a way to isolate the muscle precursor cells we generated, which is a prerequisite for their use in regenerative medicine.

"The production of a large number of pure muscle precursor cells does not only have potential therapeutic applications, but also provides a platform for large scale screening of new drugs against muscle disease."

Using a technology known as fluorescence activated cell sorting (FACS), the researchers identified the precise combination of protein markers expressed in muscle precursor cells that enabled them to isolate those cells from the rest of the cultures.

Ms Borchin said there were existing clinical trials based on the use of specialised cells derived from pluripotent stem cells in the treatment of some degenerative diseases but deriving muscle cells from pluripotent stem cells proved to be challenging.

"These results are extremely promising because they mark a significant step towards the use of pluripotent stem cells for muscle repair," Ms Borchin said.

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Step closer to muscle regeneration

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Newswise A team led by researchers at Washington University School of Medicine in St. Louis has identified variations in a gene that doubles a persons risk of developing Alzheimers disease later in life.

The research is published online Dec. 11 in the journal Nature.

Over the past two decades, scientists have discovered a number of common genetic variants linked to early-onset (which strikes before age 65) and the more common late-onset forms of Alzheimers disease. But those variants account for only a fraction of Alzheimers cases.

The newly identified variations, found in a gene never before linked to Alzheimers, occur rarely in the population, making them hard for researchers to identify. But theyre important because individuals who carry these variants are at substantially increased risk of the disease.

As part of the new research, the investigators focused on families with several members who had Alzheimers.

As a practical matter, finding mutations linked to Alzheimers disease means it may be possible to identify more people at risk years before they develop any symptoms. These patients could be monitored carefully for early signs of Alzheimers and possibly even get treatments to slow the progression of the disease.

We were very excited to be able to identify a gene that contains some of these rare variants, said lead author Carlos Cruchaga, PhD. And we were surprised to find that the effect of the gene was so large. After adjusting for other factors that can influence risk for the disease, we found that people with certain gene variants were twice as likely as those who didnt have the variants to develop Alzheimers.

As in many genetic studies of Alzheimers, Cruchaga and his co-investigators analyzed DNA from people in families in which multiple members were affected by the disease.

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Rare Gene Variants Double Risk for Alzheimer's Disease

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11-Dec-2013

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, December 10, 2013Young women, ages 55 years or below, are more likely to be hospitalized for an acute myocardial infarction (AMI) and to die within the first 30 days than men in the same age group, according to a new study published in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Women's Health website at http://www.liebertpub.com/jwh.

In fact, although overall AMI hospitalization rates declined for both women and men from 2000-2009 in this Canadian study, the only increase was for younger women (<55 years), in whom the AMI rate rose 1.7% per year. Furthermore, Mona Izadnegahdar and coauthors, University of British Columbia and Providence Health Care Research Institute (Vancouver, BC), reported that the higher 30-day mortality rate for young women compared to young men persisted throughout the study period.

"These findings highlight the need for more aggressive strategies to reduce the incidence of AMI and improve outcomes after AMI in younger women," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health, Richmond, VA, and President of the Academy of Women's Health.

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About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Complete tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the Official Journal of the Academy of Women's Health and the Society for Women's Health Research.

About the Academy

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Are younger women more likely to have and die from a heart attack?

PUBLIC RELEASE DATE:

11-Dec-2013

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, December 11, 2013People with the genetic blood clotting disorder hemophilia who have been infected with HIV for decades have an increased proportion of immune cells in their blood that specifically target HIV. This protective immune response helps chronically infected hemophilia patients survive, even during periods of HIV activity, according to a study published in BioResearch Open Access, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the BioResearch Open Access website.

Volker Daniel and colleagues, University of Heidelberg and Kurpfalz Hospital, Germany, compared the levels of a class of HIV-reactive immune cells called CD8+ lymphocytes in the blood of hemophilia patients infected with HIV for 30 years and in health individuals. They present the results in "HIV-Specific CD8+ T Lymphocytes in Blood of Long-Term HIV-Infected Hemophilia Patients."

"Understanding the reasons for long-term clinical stability in hemophilia patients living with HIV remains an important research goal, with high clinical significance," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland. "Using a unique cohort of patients, who have been living with HIV-1 for more than 30 years, the authors propose that it is the cellular anti-HIV-1 response in combination with anti-retroviral therapy that ensures the long-term survival of these patients."

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About the Journal

BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMedCentral. All journal content is available on the BioResearch Open Access website.

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Hemophilia and long-term HIV infection -- is there a protective link?

PUBLIC RELEASE DATE:

10-Dec-2013

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, December 10, 2013Antisense therapeutics, a class of drugs comprised of short nucleic acid sequences, can target a dysfunctional gene and silence its activity. A new study has shown that antisense drugs delivered systemically show activity in a wide range of tissues and organs, supporting their broad therapeutic potential in many disease indications, as described in an article in Nucleic Acid Therapeutics, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available on the Nucleic Acid Therapeutics website.

Gene Hung, Xiaokun Xiao, Raechel Peralta, Gourab Bhattacharjee, Sue Murray, Dan Norris, Shuling Guo, and Brett Monia, Isis Pharmaceuticals, Carlsbad, CA, developers of antisense therapeutics, compared two antisense drug chemistries (Generation 2.0 and 2.5) designed to target a gene that is expressed by virtually all cells in mice and non-human primates. They demonstrated antisense activity in many tissues and cell types, including liver, kidney, lung, muscle, adipose, adrenal gland, and peripheral nerves. The Generation 2.5 antisense compound was more effective in a wider range of tissues, according to the results presented in the article "Characterization of Target mRNA Reduction Through In Situ RNA Hybridization in Multiple Organ Systems Following Systemic Antisense Treatment in Animals."

"This seminal work addresses one of the most important questions facing the field, the demonstration and evaluation of multiple organ targeting by Nucleic Acid Therapeutics," says Executive Editor Graham C. Parker, PhD, The Carman and Ann Adams Department of Pediatrics, Wayne State University School of Medicine, Children's Hospital of Michigan, Detroit, MI. "This publication provides a benchmark for convergent analyses in multiple models for preclinical efficacy evaluation."

Nucleic Acid Therapeutics is under the editorial leadership of Co-Editors-in-Chief Bruce A. Sullenger, PhD, Duke Translational Research Institute, Duke University Medical Center, Durham, NC, and C.A. Stein, MD, PhD, City of Hope National Medical Center, Duarte, CA; and Executive Editor Graham C. Parker, PhD.

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About the Journal Nucleic Acid Therapeutics is an authoritative, peer-reviewed journal published bimonthly in print and online that focuses on cutting-edge basic research, therapeutic applications, and drug development using nucleic acids or related compounds to alter gene expression. Nucleic Acid Therapeutics is the official journal of the Oligonucleotide Therapeutics Society. Complete tables of content and a free sample issue may be viewed on the Nucleic Acid Therapeutics website.

About the Society

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New study shows a breadth of antisense drug activity across many different organs

Arlington, VA (PRWEB) December 10, 2013

Join us for this free 60-minute webinar on December 12, 2013 at 2:00PM EST/11:00AM PST, as Genetic Engineering & Biotechnology News hosts BioInformatics LLC and other top industry leaders from Life Technologies and Chempetitive Group to discuss effective mobile marketing practices for reaching life scientists.

According to a recent study, one-third of scientists engage in social media either weekly or daily to support their research. And some scientists are constantly using social media for non-work related activities, which indicates that they are also more likely to spend time on social media sites to support their research.

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What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure.

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age).

Some examples of monogenetic disorders include:

Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

Genetic Disease - Symptoms Question: What were the symptoms of a genetic disease in you or a relative?

Genetic Disease - Screening Question: Have you been screened for a genetic disease? Please share your story.

Genetic Disease - Personal Experience Question: Is there a genetic disease in your family? Please share your experience.

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Genetic Disease Causes, Types, and Conditions Information ...

PUBLIC RELEASE DATE:

10-Dec-2013

Contact: Donna Dubuc Donna.M.Dubuc@Dartmouth.edu 603-653-3615 The Geisel School of Medicine at Dartmouth

(Lebanon, NH, 12/9/13)There may be a better way to analyze the genetic causes of cutaneous melanoma (CM) according to a study published in Human Genetics conducted by researchers Yale and Dartmouth. A statistical analysis using the natural and orthogonal interaction (NOIA) model showed increased power over existing approaches for detecting genetic effects and interactions when applied to the genome-wide melanoma dataset.

The gene-gene interactions underlying CM had not been fully explored. The usual functional model uses substitution of alleles for estimating genetic effects but the estimators are confounded. The NOIA model estimates population effects of alleles and the resulting estimators are orthogonal and no longer confounded. In simulation studies, the NOIA model had higher power for finding interactions and main effects than the usual model.

"We confirmed the previously identified significant associated genes HERC2, MC1R, and CDKN2A using a NOIA one-locus statistical model," said Christopher I. Amos, PhD, associate director for Population Sciences, Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, a corresponding author of the study. "When compared to the usual one-locus model we found that the HERC2 signal was detected more clearly by the NOIA model" The NOIA model also identified an additional potential interaction between the rs1129038 of HERC2 gene and a region at chromosome 5. The SNPs that interact with HERC2 to increase melanoma risk are located in the IL31RA gene, which is involved in STAT3 signaling and upregulated in activated monocytes.

The first author Feifei Xiao, a postdoctoral associate of Yale University, concluded that the power of the NOIA model was better for detecting genetic effects when interactions are tested. When main and interaction effects between two loci were modeled, the usual functional model was less powerful.

CM is highly aggressive and accounts for the majority of deaths from skin cancer. Prior genome-wide association studies have identified multiple genetic factors for the illness, including MC1R, HERC2, and CDKN2A. This study provides new insights for understanding the influence of gene-gene interactions on melanoma risk.

The NOIA framework was developed for modeling gene-gene interactions in the analysis of quantitative traits, to allow for reduced genetic models, dichotomous traits, and gene-environment interactions. The NOIA statistical model can be used for additive, dominant, and recessive genetic models as well as for a binary environmental exposures. It is an easily implemented approach that improves estimation of genetic effects that include interactions.

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Scientists identify more powerful approach to analyze melanoma's genetic causes