Glenn Maughan, who has epilepsy, receives marijuana treatment in Salt Lake City. (Rick Bowmer/AP) The parents of 9-year-old Sam Saretti have tried everything to help his epilepsy. Various drugs helped a little, but they added 40 pounds to his frame. Not even an implant that zapped his vagus nerve has stopped him from frequently dropping to the floor and convulsing with seizures. So this year, the Sarettis opted to try something a little unorthodox: pot. The Florida legislature last year passed a law allowing doctors to administer low-THC cannabis to patients with certain medical conditions. The Sarettis are still in limbo, however, because a judge recently invalidated a system for choosing marijuana growers, so no one in the state is currently authorized to cultivate the stuff, ABC News reported. There's some very early, and largely anecdotal, evidence that marijuana might be an effective treatment for some forms of epilepsy in children who haven't responded to traditional medications. It's partly to help bolster these types of clinical studies that the American Academy of Pediatrics today recommended that the government re-classify marijuana as a Schedule II drug, a category that includes other addictive, yet still therapeutic, substances like oxycodone, morphine, and codeine. … Continue reading →

Study is cover of Nature Medicine; included in historic first upload to Autism Speaks MSSNG portal for open-access research TORONTO, ONT. (January 26, 2015) - The largest-ever autism genome study, funded by Autism Speaks, reveals that the disorder's genetic underpinnings are even more complex than previously thought: Most siblings who have autism spectrum disorder (ASD) have different autism-linked genes. Led by the director of the Autism Speaks MSSNG project (pronounced "missing"), the report made the cover of today's Nature Medicine. Simultaneous with publication, the study's data became part of the historic first upload of approximately 1,000 autism genomes to the Autism Speaks MSSNG portal in Google Cloud Platform. Autism Speaks is making the de-identified data openly available for global research in order to speed understanding of autism and the development of individualized treatments. "This is a historic day," says study leader Stephen Scherer, "as it marks the first time whole genome sequences for autism will be available for research on the MSSNG open-science database. This is an exemplar for a future when open-access genomics will lead to personalized treatments for many developmental and medical disorders." In addition to leading Autism Speaks' MSSNG program, Dr. Scherer directs the Centre for Applied … Continue reading →

Results of the largest autism study to use whole genome sequencing suggest that no two autism cases are the same, even if they come from the same family. The study, published online Monday in the journal Nature Medicine, shows that there is a large genetic diversity in autism. It also underscores the need to do whole genome sequencing on patients, Dr. Stephen Scherer from Toronto's Hospital for Sick Children said in a statement. "We already knew that there are many differences between autism cases, but our recent findings firmly nail that down," he said. "It shows that a full assessment of each individual's genome is needed to determine how to best use knowledge of their own genetic makeup for autism treatment." For the study, researchers analyzed the DNA of 85 different families, each with two children with autism. Whole genome sequencing technology was used to detect any genetic mutations in the children. Scherer said the results showed that no two autism cases are the same, even if they come from the same family. "We believe each child with autism is like a snowflake; one is unique from another. Surprisingly, our research found that in more cases than not, even siblings … Continue reading →