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Researchers identify a common mechanism underlying diverse brain disorders


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. ....

United States , Jing Qiong Katty Kang , Terry Jo Bichell , Emily Henderson , Researchers At Vanderbilt University Medical Center , Vanderbilt University Medical Center , Amber Freed , ஒன்றுபட்டது மாநிலங்களில் , எமிலி ஹென்டர்சன் , ஆராய்ச்சியாளர்கள் இல் வாண்டர்பில்ட் பல்கலைக்கழகம் மருத்துவ மையம் , வாண்டர்பில்ட் பல்கலைக்கழகம் மருத்துவ மையம் , அம்பர் விடுவிக்கப்பட்டது ,

Common mechanism found for diverse brain disorders: Study


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IMAGE: Jing-Qiong (Katty) Kang, M.D., Ph.D., associate professor of Neurology and Pharmacology, Vanderbilt University Medical Center.
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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, sai ....

United States , Sarah Poliquin , Kathryn Rigsby , Gerald Nwosu , Wangzhen Shen , Alejandra Romero Morales , Vivian Gama , Anuj Rastogi , Jing Qiong Katty Kang , Felicia Mermer , Terry Jo Bichell , Innovation Fund , Researchers At Vanderbilt University Medical Center , National Institutes Of Health , Charlesc Gates Center , Vanderbilt University Medical Center , Amber Freed , Taysha Gene Therapies , Center Director , National Institutes , Medicine Health , Mental Health , ஒன்றுபட்டது மாநிலங்களில் , ஜெரால்ட் நுவோசு , அலெஜாண்ட்ரா ரொமெரோ மன உறுதியும் , விவியன் காமா ,

The Danger of Drug Price Controls | Independent Women's Forum


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. ....

United States , Steven Gray , University Of Texas Southwestern Medical Center , Amber Freed , Texas Southwestern Medical Center , Truths And , Pharmaceutical Price , ஒன்றுபட்டது மாநிலங்களில் , ஸ்டீவன் சாம்பல் , பல்கலைக்கழகம் ஆஃப் டெக்சாஸ் தென்மேற்கு மருத்துவ மையம் , அம்பர் விடுவிக்கப்பட்டது , டெக்சாஸ் தென்மேற்கு மருத்துவ மையம் , உண்மைகள் மற்றும் , மருந்து ப்ரைஸ் ,