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Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder


Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder
A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children s Hospital and assistant professor at Baylor College of Medicine, and Dr. Vandana Shashi at Duke University Medical Center.
Using a combination of comprehensive clinical tests, trio genome sequencing and functional studies in the fruit flies, and global gene matchmaking efforts, the teams found loss-of-function variants in RNF2 gene disrupt normal neuronal development and function that likely resulted in a wide gamut of symptoms from severe intellectual disabilities, hypotonia, impaired motor skills, epilepsy, growth retardation, seizures and feeding difficulties i ....

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An experimental gene therapy was little Alissa's only hope. Now, instead of certain death, she faces an uncertain future.


An experimental gene therapy was little Alissa s only hope. Now, instead of certain death, she faces an uncertain future.
Karen Weintraub, USA TODAY
© Feldborg family photo
Alissa Feldborg
BOSTON Thomas Feldborg and Daria Rokina set off nearly every afternoon to explore this city. They leave from their hotel in the Charlestown neighborhood, pushing their baby carriage, some days heading deep into downtown, others choosing a path along the Charles River. 
Every few minutes, Rokina stops to peek inside and check on 16-month-old Alissa. She gently rubs Alissa s cheek and coos a few soothing words, making sure the little girl is warm enough in her yellow snowsuit and adjusting her sparkly unicorn earmuffs.  ....

United States , University Of Massachusetts , Auburn University , Cummings School , Charles River , Thomas Feldborg , Feldenkrais Method , Pavan Cheruvu , Daria Rokina , Miguel Sena Esteves , Cynthia Tifft , Florian Eichler , Isaac Kohane , Douglas Martin , Matty Wilkinson , Joan Horak , Alissa Feldborg , Terence Flotte , Department Of Biomedical Informatics , Langone Health , National Institutes Of Health , Drug Administration , Harvard Medical School , Auburn University College Of Veterinary Medicine , York University Medical Center , Umass Memorial Medical Center ,