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Archive - Feb 21, 2019

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Geneticists ID Molecular Pathway for Autism-Related Disorder (KOS)

Geneticists have discovered a molecular trigger for a severe autism-related disorder that has enabled them to start testing a potential therapy targeting a specific protein in the brain. A UT (University of Texas) Southwestern study involving humans and mice details one of the few instances in which researchers have found a precise pathway that causes a neurodevelopmental disorder – in this case a rare condition called Kaufman oculocerebrofacial syndrome (KOS). The research gives scientists a better understanding of potential treatments for KOS, which is characterized by intellectual disability and lack of speech. It also demonstrates the benefits of using modern genetic sequencing to dissect the vast and complicated network of mutations that underlie autism spectrum disorder. “Researchers have already identified broad molecular pathways for different forms of autism spectrum disorder,” said Dr. Maria Chahrour (photo), a neurogeneticist who led the study published published online on February 11, 2019 in PNAS. “What we are working on now is defining specific pathways like this one that are actionable and can be targeted for therapies.” The PNAS article is titled “The Ubiquitin Ligase UBE3B, Disrupted in Intellectual Disability and Absent Speech, Regulates Metabolic Pathways by Targeting BCKDK.” Scientists have known that the absence of the UBE3B gene leads to KOS but were not aware of what happened inside the brain that caused the symptoms. The new PNAS study found that KOS may occur when a protein known as BCKDK accumulates in the brain in the absence of UBE3B, which would normally regulate the BCKDK protein. Mutations in the BCKDK gene can also lead to autism spectrum disorder. Dr.

Rare Disease Day at NIH Is Thursday Feb 28, 8:30 am-4:00 pm EST; NIH Director Francis Collins to Speak at 10:45 am; Pre-Meeting Twitter Chat Is Friday, Feb 22, 1-2 pm EST

Rare Disease Day at NIH (https://ncats.nih.gov/rdd), will be held this year on February 28, 2019, from 8:30 am to 4:00 pm in the Main Auditorium of the Natcher Conference Center, Bldg. #45, on the main NIH campus in Bethesda, Maryland. The center will open at 7:30 am for registration and poster/booth setup. The event is free, but pre-meeting registration is requested (https://events-support.com/events/Rare_Disease_Day/page/1960). The event is open to the public, including patients, patient advocates, health care providers, industry representatives, and government employees. In association with Global Genes®, participants are encouraged to wear their favorite pair of jeans. The aims of Rare Disease Day at NIH 2019 are to raise awareness about rare diseases, about the people they affect and NIH research collaborations under way to address scientific challenges, and to advance new treatments. The goals are to: demonstrate the NIH commitment to helping people with rare diseases through research; highlight NIH-supported rare diseases research and the development of diagnostics and treatments; initiate a mutually beneficial dialogue among public and private researchers, patients, patient advocates, and policymakers; exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts; and to put a face on rare diseases by sharing stories of patients, their families, and their communities.