Mutaz Amin, MD, PhD

Mutaz (he/him) obtained his MBBS and Master's degrees in Molecular Medicine from the University of Khartoum (Sudan). He finished his PhD in Genetics at the University of Paris (France) studying the genetics of rare hereditary white matter diseases. He then worked for two years in Orphanet as a Geneticist/Gene curator and represented Orphanet in the international Consortium of Gene Curation Coalition (GenCC). He also was a member in the executive committee of the European Reference Network of experts on Intellectual disabilities (ERN-ITHACA). Mutaz is now a postdoctoral associate in the O’Donnell-Luria’s lab. He uses data from the gnomAD database to estimate the prevalence of rare diseases and helps in identifying rare disease diagnostics from exome and genome data. His research interests include rare disease genetics focusing on intellectual disabilities and neurodevelopmental disorders.