Researchers have narrowed down the list of genes implicated in autism spectrum disorder, and they appear to point toward a part of the brain that has largely been overlooked. Most research into the genetic roots of autism, a highly heritable disorder that affects about 1 in 68 children, starts with a kind of inventory of genes. Then, it narrows down this genome-wide survey to prime suspects that appear to be different among those with one or several of the symptoms of autism. That gene-by-gene approach, however, has unearthed too many suspects, each with somewhat vague relationships to a small sliver of the autism spectrum. That situation has sparked some to abandon the gene-by-gene approach in favor of environmental factors that may alter gene behavior. Whats special about autism is that it doesnt seem like its a one-gene thing, said Stanford UniversitySchool of Medicinegeneticist Michael Snyder, lead investigator of the study published online Tuesday in the journal Molecular Systems Biology. Maybe this is a tough way to look at it, Snyder said of the gene-by-gene approach. Maybe a better way to look at it is to see what the normal biological landscape looks like, and see how people who are mutated … Continue reading →

See Inside As comprehensive genetic tests become more widespread, patients and experts mull how to deal with unexpected findings Skip Sterling Last spring Laura Murphy, then 28 years old, went to a doctor to find out if a harmless flap of skin she had always had on the back of her neck was caused by a genetic mutation. Once upon a time, maybe five years ago, physicians would have focused on just that one question. But today doctors tend to run tests that pick up mutations underlying a range of hereditary conditions. Murphy learned not only that a genetic defect was indeed responsible for the flap but also that she had another inherited genetic mutation. This one predisposed her to long QT syndrome, a condition that dramatically increases the risk of sudden cardiac death. In people with the syndrome, anything that startles themsay, a scary movie or an alarm clock waking them from a deep slumbermight kill by causing the heart to beat completely erratically. Doctors call this second, unexpected result an incidental finding because it emerged during a test primarily meant to look for something else. The finding was not accidental, because the laboratory was scouring certain genes for … Continue reading →

Protein UbcH7 regulates action of 53BP1 gene repair route where cancer cells are met with fatal inhospitality Case Western Reserve researchers have identified a two-pronged therapeutic approach that shows great potential for weakening and then defeating cancer cells. The team's complex mix of genetic and biochemical experiments unearthed a way to increase the presence of a tumor-suppressing protein which, in turn, gives it the strength to direct cancer cells toward a path that leads to their destruction. If the laboratory findings are supported by tests in animal models, the breakthrough could hold the promise of increasing the effectiveness of radiation and chemotherapy in shrinking or even eliminating tumors. The key is to build up a "good" protein - p53-binding protein 1 (53BP1) -- so that it weakens the cancer cells, leaving them more susceptible to existing cancer-fighting measures. The breakthrough detailed appeared in the Nov. 24 online edition of the journal PNAS (Proceedings of the National Academy of Sciences). "Our discovery one day could lead to a gene therapy where extra amounts of 53BP1 will be generated to make cancer cells more vulnerable to cancer treatment," said senior author Youwei Zhang, PhD, assistant professor of pharmacology, Case Western Reserve University … Continue reading →

By Dennis Thompson HealthDay Reporter MONDAY, Dec. 29, 2014 (HealthDay News) -- An experimental therapy that kills off and then "resets" the immune system has given three years of remission to a small group of multiple sclerosis patients, researchers say. About eight in 10 patients given this treatment had no new adverse events after three years. And nine in 10 experienced no progression or relapse in their MS, said lead author Dr. Richard Nash of the Colorado Blood Cancer Institute at Presbyterian/St. Luke's Medical Center in Denver. "I think we all think of this as a viable therapy," Nash said. "We still need to perform a randomized clinical trial, but we're all pretty impressed so far, in terms of what we've seen." In multiple sclerosis, the body's immune system for some unknown reason attacks the nervous system, in particular targeting the insulating sheath that covers the nerve fibers, according to the U.S. National Institutes of Health. People with the more common form, called relapsing-remitting MS, have attacks of worsening neurologic function followed by partial or complete recovery periods (remissions). Over time, as the damage mounts, patients become physically weak, have problems with coordination and balance, and suffer from thinking and … Continue reading →

The author has posted comments on this articleSushmi Dey, TNN | Dec 30, 2014, 04.18AM IST The proposal suggests enrolling all district hospitals in the first phase to seek stem cell details from across the country. Page 1 of 4 The proposal suggests enrolling all district hospitals in the first phase to seek stem cell details from across the country. "Once a stem cell donor registry is in place, a willing donor can be contacted and one can coordinate easily. Also, this would enhance access to safe blood," the official said. Stem cells, found in bone marrow, are like building blocks which can grow into any normal cell of the body such as red blood cells to carry oxygen, white blood cells to fight infection, or platelets to stop bleeding. Once created, this would be the first government registry in the country. Till now, such registries have been run in the country by a few NGOs such as Bharat Stem Cells. According to Bharat Stem Cells, there is usually 25% chance of a patient finding a matching donor within the family. The rest depend on unrelated voluntary stem cell donors. Stem cell therapy has been shown to be effective in … Continue reading →