--Researchers at The Childrens Hospital of Philadelphia Identify New Gene in Cornelia deLange Syndrome-- Newswise Philadelphia, Aug. 12, 2012 Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development. As we better understand how CdLS operates at the level of cell biology, we will be better able to define strategies for devising treatments for CdLS, and possibly for related disorders, said study leader Matthew A. Deardorff, M.D., Ph.D., a pediatric genetics clinician and scientist at The Childrens Hospital of Philadelphia. Deardorff also is in the Perelman School of Medicine at the University of Pennsylvania. Deardorff and co-corresponding author Katsuhiko Shirahige, Ph.D., of the Research Center for Epigenetic Disease at the University of Tokyo, published their study online today in Nature. The current findings add to previous discoveries by researchers at The Childrens Hospital of Philadelphia. A group led by Ian Krantz, M.D., and Laird Jackson, M.D., announced in … Continue reading →

Public release date: 12-Aug-2012 [ | E-mail | Share ] Contact: John Ascenzi ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development. "As we better understand how CdLS operates at the level of cell biology, we will be better able to define strategies for devising treatments for CdLS, and possibly for related disorders," said study leader Matthew A. Deardorff, M.D., Ph.D., a pediatric genetics clinician and scientist at The Children's Hospital of Philadelphia. Deardorff also is in the Perelman School of Medicine at the University of Pennsylvania. Deardorff and co-corresponding author Katsuhiko Shirahige, Ph.D., of the Research Center for Epigenetic Disease at the University of Tokyo, published their study online today in Nature. The current findings add to previous discoveries by researchers at The Children's Hospital of Philadelphia. A group led by Ian Krantz, M.D., and Laird Jackson, M.D., announced in … Continue reading →

IACC head Dr. Thomas Insel has failed in his duty to effectively and responsibly allocate federal research money for autism, according to the Elizabeth Birt Center for Autism Law and Advocacy. A July 2012 report says Insel has been transparently biased against studies of environmental causes of autism, especially mercury-containing childhood vaccines. The federal panel charged with allocating funds for autism research has squandered hundreds of millions in taxpayer money on ideological, nonscientific priorities. Its decisions have been financially irresponsible and practically ineffective. Its chairman should be fired and many board members replaced. So says the Brooklyn-based Elizabeth Birt Center for Autism Law and Advocacy (EBCALA) in a stinging critique of autism policy under the Bush and Obama administrations titled "A Critical Review of the Performance of the Interagency Autism Coordinating Committee" (IACC). "From the controversial appointment or retention of committee representatives, to the troublesome history of committee members themselves, to the lack of accountability for the few advances made in autism research, to the questionable direction of the Strategic Plan, it is fair to state that the IACC is not living up to Congress and the publics expectations," the July 10, 2012, report says. 'Autism and the Indiana Environment … Continue reading →

The Soupy Awards are out, and one person recognized was Rep. Pete Petersen (D-Anchorage). Petersen received the award for his work in passing legislation that ensures children with autism receive the treatment they need. Today's recognition comes from the Stone Soup Group, an Alaska non-profitwith the vision to sustain the health and well-being of children with special needs. Rep. Petersen first introduced legislation to require health insurance policies to cover autism in 2009. The mother of a child with autism explained her family's troubles in paying for his treatment, even with proper health coverage. Petersen reintroduced the bill last year with Sen. Johnny Ellis (D-Anchorage) introducing the senate version. Senate Bill 74 finally became law on June 27. Rep. Petersen said the sooner a child with autism can receive treatment, the better his or her chances are to learn and interact with children of their own age. He said he's honored and humbled to receive the award, but says the law is only one step. "One thing that this law will do is typically what is done in other states. Providers have come to those states and opened up businesses, and also with the universities they've started adding programs to … Continue reading →

BAR HARBOR Advances in genetic medicine are proceeding at such a rapid clip that solutions to some of humanitys most intractable medical problems could be present within the decade, Jackson Laboratory President and CEO Edison Liu, M.D. said Monday. Dr. Liu was speaking before a crowd of 150 gathered at the Bar Harbor Club for the annual meeting of the Mount Desert Island Hospital. If we can push the envelope, we will cure cancer by the year 2020, Dr. Liu said in his keynote address. If Jackson Lab, on the little island on MDI, can win the Nobel Prize, we can beat breast cancer. Advances in technology and in knowledge of the human genome have risen so much in the past decade that what we imagined just a few years ago is now reality, Dr. Liu said. Today, we have high-resolution understanding of your genetics and your genome. We dont have to guess anymore, he said. We havent seen anything like this since the development of the motherboard in electronics. In typical cancer treatment, a 30 percent response rate is considered a good outcome. But, with the growing ability to tailor drugs to each individual, the field of personalized medicine … Continue reading →

Saturday, August 11, 2012 EVER since former President Joseph Estrada openly admitted that he had undergone fresh stem cell therapy in Germany early this year, it seems like a lot of people, particularly those in show business are abuzz about it and are themselves going for it. Lolit Solis has had hers recently, although she has no known illness. Good thing she found a generous sponsor for her treatment. The feisty Annabelle Rama is scheduled to have hers in September, hopefully to address her high blood pressure (it sure is so obvious), high blood sugar, as well as her supposed scoliosis. Madonna, Halle Berry and other Hollywood stars are said to have undergone the same therapy as well, which is said to give patients rejuvenation, longevity of life, disease prevention and life-saving purposes. Click here to get the latest Kadayawan 2012 updates. And the list of famous people undergoing fresh stem cell therapy gets longer. So what is this treatment that a lot of people, especially the moneyed, are talking about? Checking out the website of one of the clinics giving the treatment in Weinstrabe, Germany, it says that fresh stem cell therapy is natural, safe and scientifically proven. It … Continue reading →

Researchers may have found a promising stem cell therapy for preventing osteoarthritis after a joint injury. Injuring a joint greatly raises the odds of getting a form of osteoarthritis called post-traumatic arthritis, or PTA. There are no therapies yet that modify or slow the progression of arthritis after injury. Researchers at Duke University Health System have found a very promising therapeutic approach to PTA using a type of stem cell, called mesenchymal stem cells (MSCs), in mice with fractures that typically would lead to them developing arthritis. Their findings could lead to a therapy that would be used after joint injury and before signs of significant osteoarthritis. The scientists thought the stem cells would work to prevent PTA by altering the balance of inflammation and regeneration in knee joints, because these stem cells have beneficial properties in other regions of the body. "The stem cells were able to prevent post-traumatic arthritis," said Farshid Guilak, Ph.D., director of orthopaedic research at Duke and senior author of the study. The researchers also thought that a type of mice bred for their super-healing properties would probably fare better than typical mice, but they were wrong. "We decided to investigate two therapies for the … Continue reading →