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DOT1L gene variants associated with a new neu

<p>A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the&nbsp;<a href="file:///C:/Users/rxnatara/AppData/Local/Microsoft/Windows/INetCache/Content.Outlook/DJZEC7Z1/nri.texaschildrens.org">Jan and Dan Duncan Neurological Research Institute</a>&nbsp;(Duncan NRI) at Texas Children&rsquo;s Hospital, has discovered that gain-of-function variants in the&nbsp;<em>DOT1L&nbsp;</em>gene cause a new disorder. Further studies revealed that the majority of the symptoms in the patients were surprisingly due to an increase in the enzymatic activity of a histone methylase encoded by this gene. This study was published in the&nbsp;<em><u><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(23)00322-1">American Journal of Human Genetics</a></u></em>.</p>

Rare Disease Day 2023: Isla's Story and NGLY1 Deficiency

Sucheta Bhatt, MD, FACMG and Rong Mao, MD, FACMG Elected to Board of Directors of the ACMG Foundation for Genetic and Genomic Medicine

/PRNewswire/ The ACMG Foundation for Genetic and Genomic Medicine (ACMGF) announced today that Sucheta (Suchi) Bhatt, MD, FACMG and Rong Mao, MD, FACMG were.

Australian-first project to map people living with Huntington's Disease

Vaccinex Reports Third Quarter 2022 Results and Provides Corporate Update

14.11.2022 - Continued Progress in Pepinemab Oncology and Neurology Clinical ProgramsPromising initial responses in Phase 1b/2 open-label KEYNOTE B84 study of pepinemab with KEYTRUDA in Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma Patient .