Researchers identify a common mechanism underlying diverse brain disorders
Researchers at Vanderbilt University Medical Center (VUMC) have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain.
Their findings, reported last month in the journal
Brain, suggest that boosting transporter function via genetic or pharmacological means could be beneficial in treating brain disorders linked to these genetic variations.
This points to a clear direction of treating a wide spectrum of neurodevelopmental disorders, from various epilepsy syndromes (and) autism to neurodevelopmental delay and intellectual disabilities, caused by the pathological variants in this gene.
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IMAGE: Jing-Qiong (Katty) Kang, M.D., Ph.D., associate professor of Neurology and Pharmacology, Vanderbilt University Medical Center. view more
Credit: Vanderbilt University Medical Center
Researchers at Vanderbilt University Medical Center (VUMC) have identified a common mechanism underlying a spectrum of epilepsy syndromes and neurodevelopmental disorders, including autism, that are caused by variations in a gene encoding a vital transporter protein in the brain.
Their findings, reported last month in the journal
Brain, suggest that boosting transporter function via genetic or pharmacological means could be beneficial in treating brain disorders linked to these genetic variations. This points (to) a clear direction of treating a wide spectrum of neurodevelopmental disorders, from various epilepsy syndromes (and) autism to neurodevelopmental delay and intellectual disabilities, caused by the pathological variants in this gene, said Jing-Qiong (Katty) Kan
Min
Amber Freed, a mother of boy-and-girl twins, has high hopes and aspirations for her son, Maxwell, who was diagnosed with an incredibly rare, unnamed debilitating disease, SLC6A1. The disease is progressive and neurodevelopmental. It causes speech apraxia, intellectual disability, and progresses into a debilitating form of epilepsy.
When the diagnosis was first given to Freed, she immediately sought answers but doctors had devastating news: Not only was there no cure for Maxwell’s disease, there were no existing drugs or therapies to help with the symptoms.
After tracking down a well-respected scientist, Dr. Steven Gray of the University of Texas Southwestern Medical Center, Freed flew to Washington, D.C. for a conference she knew he was attending and the two sat down for a four-hour long dinner. During the dinner, Freed learned that Maxwell was a good candidate for gene replacement therapy and thus, discussed a treatment plan.
Story City, Iowa couple seeks a cure for their son s rare disease amestrib.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from amestrib.com Daily Mail and Mail on Sunday newspapers.