ScienceDaily (Nov. 28, 2012) Nearly three-quarters of mutations in genes that code for proteins -- the workhorses of the cell -- occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine. "One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.) How events affected genome The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from what would have been seen 5,000 years ago, said Leal and her colleagues in … Continue reading →

Public release date: 29-Nov-2012 [ | E-mail | Share ] Contact: Lauren Woods Law2014@med.cornell.edu 646-317-7401 New York- Presbyterian Hospital/Weill Cornell Medical Center/Weill Cornell Medical College NEW YORK (Nov. 29, 2012) -- Weill Cornell Medical College researchers Dr. Shahin Rafii and Dr. Xin-Yun Huang have been elected new Fellows of the American Association for the Advancement of Science (AAAS), the world's largest general scientific society, for their significant contributions to the advancement of the biological sciences. Dr. Rafii, director of the Ansary Stem Cell Institute and the Arthur B. Belfer Professor in Genetic Medicine at Weill Cornell, is honored for his important contributions to the field of vascular biology, stem cell homeostasis and the development of transformative preclinical models to induce organ regeneration and target tumors. Dr. Huang, professor of physiology and biophysics at Weill Cornell, is recognized for his distinguished contributions in the field of cellular signaling, particularly his investigations of G-protein-mediated cell signaling. "Dr. Rafii and Dr. Huang's research discoveries in cellular communication, stem cell research, cancer and vascular disease have led to major advancements in biomedical research and the development of targeted therapies," says Dr. Laurie H. Glimcher, the Stephen and Suzanne Weiss Dean of Weill Cornell Medical … Continue reading →

Public release date: 28-Nov-2012 [ | E-mail | Share ] Contact: Jeffrey Bright jeffrey.bright@joslin.harvard.edu 617-309-1957 Joslin Diabetes Center BOSTON November 28, 2012 As part of their ongoing research on the role of genes in the development of type 1 diabetes, Joslin Diabetes Center scientists, in collaboration with scientists at the University of Wrzburg, have demonstrated how a genetic variant associated with type 1 diabetes and other autoimmune diseases influences susceptibility to autoimmunity. The findings appear in the upcoming issue of Diabetes. Recent studies of the human genome have identified genetic regions associated with autoimmune diseases such as type 1 diabetes. Joslin scientists in the Section of Immunobiology seek to understand how genes that are most widely associated with various autoimmune diseases contribute to disease risk. One of these genes is PTPN22, which plays a role in lymphocyte (immune cell) function. A PTPN22 variant (or mutation) has been implicated as a risk factor for type 1 diabetes and several other autoimmune disorders. PTPN22 is involved in the formation of a key protein known as lymphoid tyrosine phosphatase (LYP), which helps control the activity of T and B cells in the immune system. The PTPN22 mutation generates a variation of LYP with … Continue reading →

Public release date: 29-Nov-2012 [ | E-mail | Share ] Contact: Christopher Rucas christopher.rucas@nyumc.org 212-404-3525 NYU Langone Medical Center / New York University School of Medicine Scientists at NYU Langone Medical Center have identified two genes involved in establishing the neuronal circuits required for breathing. They report their findings in a study published in the December issue of Nature Neuroscience. The discovery, featured on the journal's cover, could help advance treatments for spinal cord injuries and neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS), which gradually kill neurons that control the movement of muscles needed to breathe, move, and eat. The study identifies a molecular code that distinguishes a group of muscle-controlling nerve cells collectively known as the phrenic motor column (PMC). These cells lie about halfway up the back of the neck, just above the fourth cervical vertebra, and are "probably the most important motor neurons in your body," says Jeremy Dasen, PhD, assistant professor of physiology and neuroscience and a member of the Howard Hughes Medical Institute, who led the three-year study with Polyxeni Philippidou, PhD, a postdoctoral fellow. Harming the part of the spinal cord where the PMC resides can instantly shut down breathing. But relatively little … Continue reading →

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- The vast majority (80 percent) of parents with at least one child with Autism Spectrum Disorder (ASD) would pursue genetic testing if a test were available that could identify risk in a younger sibling, citing the desire for earlier identification of children at risk, earlier evaluation and intervention, closer monitoring and lessened anxiety. The findings were reported in Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders, a survey published online today in the journal Clinical Pediatrics. The survey of 162 parents of children with ASD also reported an almost three-year lag from the time ASD was initially suspected until a child received a diagnosis--even in families with a previously diagnosed child. Link to publication. The internet-based survey was sponsored by IntegraGen, Inc. and conducted during February and March 2012. Earlier this year, the CDC announced that ASD prevalence in the United States has increased to one in 88 children, and even with increased awareness, the average age of ASD diagnosis is greater than four years. The majority of parents surveyed said they would be interested in having their child tested if a genetic test was available that could identify ASD risk--even if it … Continue reading →

Public release date: 28-Nov-2012 [ | E-mail | Share ] Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine HOUSTON -- (Nov. 29, 2012) Nearly three-quarters of mutations in genes that code for proteins the workhorses of the cell occurred within the past 5,000 to 10,000 years, fairly recently in evolutionary terms, said a national consortium of genomic and genetic experts, including those at Baylor College of Medicine. "One of the most interesting points is that Europeans have more new deleterious (potentially disease-causing) mutations than Africans," said Dr. Suzanne Leal, professor of molecular and human genetics at BCM and an author of the report. She is also director of the BCM Center for Statistical Genetics. "Having so many of these new variants can be partially explained by the population explosion in the European population. However, variation that occur in genes that are involved in Mendelian traits and in those that affect genes essential to the proper functioning of the cell tend to be much older." (A Mendelian trait is controlled by a single gene. Mutations in that gene can have devastating effects.) The amount variation or mutation identified in protein-coding genes (the exome) in this study is very different from … Continue reading →

Procedure Combines Point-of-Care Stem Cell Therapy and Enriched Mesenchymal Stem Cell Injection NAMPA, ID--(Marketwire - Nov 29, 2012) - Veterinarians from Idaho Equine Hospital, including Dr. William Maupin and Dr. Stuart Shoemaker, performed the first-ever combination regenerative medicine treatment on a six-year-old Quarter Reined Cow horse that suffered a significant injury to its distal straight sesamoidean ligament. This injury can be challenging for veterinarians to successfully treat and return the horse to athletic competition. The veterinary team and the scientific team at Stemlogix, LLC determined that the best treatment protocol would be to treat him with point-of-care stem cell therapy using the Stemlogix In-Clinic Regenerative Medicine System and then perform a follow up treatment a few weeks later using culture expanded mesenchymal stem cells. He received a dose of the point-of-care stem cell therapy three weeks ago and three weeks later received an injection of culture expanded mesenchymal stem cells. Stemlogix, LLC pioneered the landmark stem cell therapy treatment regimen and this is the first time this combination stem cell therapy treatment has ever been performed on a horse. The team that treated the horse believes this revolutionary treatment protocol will give him the best chance for an improved quality … Continue reading →

Washington, November 28 (ANI): When mesenchymal cells derived from skeletal muscle (SM-MSCs) or adipose tissue (ADSCs) were injected into the heart muscle (myocardium) of separate groups of laboratory rats that had suffered a myocardial infarction, rats in both groups experienced significantly improved left ventricle function and smaller infarct size after cell therapy, a study has found. The study, carried out by researchers at Oslo University Hospital and the Norwegian Center for Stem cell Research, Oslo University, sought to determine if MSCs from different organs would result in different functional outcomes. "Despite advances in revascularization and medical therapy, acute myocardial infarction (AMI) and heart failure are still important causes of morbidity and mortality in industrialized countries," said study co-author Dr. Jan E. Brinchmann of the Norwegian center for Stem Cell Research at Oslo University Hospital, Oslo. "AMI leads to a permanent loss of contractile elements in the heart and the formation of fibrous scarring. Regeneration of contractile myocardium has been a target of cell therapy for more than a decade," he added. According to Dr. Brinchmann, MSCs tolerate hypoxia, secrete angiogenic factors and have been shown to improve vascularization; thus, they have properties suggesting that they may beneficially impact AMI, chronic … Continue reading →

Dr. Paul A. Dreschnack Offers New Options for Those With Hair Loss. New York City, NY (PRWEB) November 29, 2012 Baldness can cause social anxiety, depression and many other emotional and psychological conditions. The solutions currently being offered such as transplants and pharmaceuticals can be uncomfortable or may compromise other aspects of the patients health, explains Dr. Dreschnack. In my work around the world, I strive to find ways for people to look good and feel well so that they are able to enjoy their lives fully. Stem Cell Therapy seems to be a new frontier that may be a way for patients to improve their quality of life. Dr. Dreschnack is a four-time Nobel Prize Nominee for his work with The India Project. He has traveled internationally, helping patients who need plastic, cosmetic and reconstructive surgery. He is now working with Dr. Kamau Kokayi, Medical Director of the New York Stem Cell Treatment Center (NYSCTC) at Patients Medical. We are excited that Dr. Dreschnack is joining our Stem Cell Research Team, says Dr. Kokayi. Dr. Dreschnack has been the recipient of numerous awards including the Distinguished Surgeon Award from the Association of Operating Room Nurses, a 2002 Rose Model … Continue reading →

Released: 11/28/2012 3:45 PM EST Source: Mayo Clinic Expert Available Newswise ROCHESTER, Minn. -- Next week, more than 1,200 people from 25 countries are expected to attend the 8th Annual World Stem Cell Summit in West Palm Beach, Fla., a gathering co-sponsored by Mayo Clinic. As those close to the science explore potential stem cell applications, many patients have questions about what stem cells are and how they are being used. Timothy Nelson, M.D., Ph.D., director of Mayo Clinics Regenerative Medicine Consult Service, answers some of the most commonly asked questions about stem cells: MULTIMEDIA ALERT: Multimedia resources, including a Medical Edge package, are available for journalists to download on the Mayo Clinic News Network. What are stem cells? Stem cells are the bodys raw materials. These cells have the ability to renew themselves or change to become specialized cells with a more specific function, such as blood cells, brain cells, heart muscle or bone. Where do stem cells come from? Adult stem cells are found in tissues of the body, such as bone marrow. Emerging evidence suggests that adult stem cells may be more versatile than previously thought and have the ability to create other types of cells. Amniotic … Continue reading →