But scientists now hope that identifying the genetic cause it will help them develop drugs that can block activity in the mutant gene, thus treating SWS and port wine stains far more effectively than at present. Researchers at the Kennedy Krieger Institute in Baltimore uncovered the mutation by sequencing the genomes of affected and unaffected tissue and blood samples from three people with SWS. They were able to identify one mutation shared by all three affected samples, in gene GNAQ on chromosome 9q21. Study author Dr Anne Comi, whose findings are published in the New England Journal of Medicine said: "This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks. "Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time." Co-author Dr Jonathan Pevsner said: "This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks. "While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist. "The advancements in whole genome sequencing and the development … Continue reading →

Dr. Christian de Duve, a Belgian biochemist whose discoveries about the internal workings of cells shed light on genetic disorders such as Tay-Sachs disease and earned him a Nobel Prize in 1974, died at his home in Nethen, Belgium, on May 4. He was 95. The cause was euthanasia, legal in Belgium, and administered by two doctors at Dr. de Duves request, his son Thierry said. He was suffering from a number of health problems, including cancer and arrhythmia, Dr. Gunter Blobel, a colleague of Dr. de Duves at the Rockefeller University in Manhattan, said, and decided to end his life after falling a few weeks ago. He wanted to make the decision while he was still able to do it and not be a burden. Dr. de Duve spent the last month writing letters to friends and colleagues telling them of his decision, and he put off his death until Thierry, who lives in Los Angeles, could be with him, along with his three other children, he told the Belgian newspaper Le Soir in an interview published after his death. Beginning in the late 1940s, Dr. de Duve used a centrifuge and other techniques to separate and examine the … Continue reading →

By Duke Medicine News and Communications DURHAM, N.C. A non-inherited genetic mutation that arises during fetal development has been shown to be the cause of port-wine stains, one of the most common birth defects, as well as a related, but rare disorder called Sturge-Weber Syndrome (SWS). In a study published May 8, 2013, in the New England Journal of Medicine, Duke Medicine scientists, in collaboration with researchers at Kennedy Krieger Institute, Johns Hopkins School of Medicine, and the Medical College of Wisconsin, have identified a variant of the gene GNAQ as the mutation that causes the defects. Sturge-Weber Syndrome occurs in approximately 1 in 20,000-50,000 live births, and is characterized by seizures, developmental delays and glaucoma, among other health problems. Researchers believe that the earlier the mutation in GNAQ happens during fetal development, the more likely it will lead to the more severe SWS outcome. The findings confirms a hypothesis posited by German dermatologist Rudolf Happle in 1987, who observed that the conditions did not appear to be inherited, suggesting they resulted from a somatic mutation a mutation that happens during development. What was really exciting was that Happle was right, said co-senior author Douglas Marchuk, Ph.D., professor and vice … Continue reading →

Public release date: 10-May-2013 [ | E-mail | Share ] Contact: Shaun Mason smason@mednet.ucla.edu 310-206-2805 University of California - Los Angeles Led by Dr. Peiyee Lee and Dr. Richard Gatti, researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA have used induced pluripotent stem (iPS) cells to advance disease-in-a-dish modeling of a rare genetic disorder, ataxia telangiectasia (A-T). Their discovery shows the positive effects of drugs that may lead to effective new treatments for the neurodegenerative disease. iPS cells are made from patients' skin cells, rather than from embryos, and they can become any type of cells, including brain cells, in the laboratory. The study appears online ahead of print in the journal Nature Communications. People with A-T begin life with neurological deficits that become devastating through progressive loss of function in a part of the brain called the cerebellum, which leads to severe difficulty with movement and coordination. A-T patients also suffer frequent infections due to their weakened immune systems and have an increased risk for cancer. The disease is caused by lost function in a gene, ATM, that normally repairs damaged DNA in the cells and preserves normal function. Developing … Continue reading →

NewsLife Interview: Dr. Theresa Deischer, Founder, SCPI- benefits and effects of stem cell therapy NewsLife Interview: Dr. Theresa Deischer, Founder, Sound Choice Pharmaceutical Institute - benefits and effects of stem cell therapy - [May 7, 2013] For more... By: PTV PH … Continue reading →