MBRU Professor Publishes Study in the American Journal of Human Genetics about Homing in on Micro-deletion

05 Mar 2018

MBRU’s faculty member Dr. Mohammed Uddin recently published collaborative research in the American Journal of Human Genetics. His study, OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome, published February of 2018 is a collaborative effort with leading educational and healthcare institutes from the Canada, USA, UK, and Denmark.

In the study, scientists have identified a gene causing a syndrome associated with numerous conditions including autism spectrum disorder, epilepsy and schizophrenia. Understanding the gene’s pathway could lead to therapies for the syndrome. The genetic code is contained in our two sets of 23 chromosomes; one set inherited from each parent. When part of the genetic code on one of the paired chromosomes is deleted or copied, known as a copy-number variation, there is a major risk of neurodevelopmental and psychiatric disorders.

Dr. Uddin, Assistant Professor of Human Genetics at MBRU’s College of Medicine said, “This deletion syndrome has been known for decades but we do not know which of the ten genes is the most important that may be impacting it.”

Recently, MBRU celebrated a research milestone for publishing 100 studies in PubMed. Dr. Uddin’s work contributes to MBRU’s research efforts, until date he has published 30 publications. 




















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