Mahmoud Koko Musa

Postdoctoral Fellow

Dr Mahmoud Koko studies the patterns, properties and consequences of rare coding and non-coding variants in individuals, families and populations, both in health and disease. He specialises in rare variant analysis from short-read sequencing data.

Mahmoud joined Sanger in 2022 as a postdoctoral fellow. His work in the Medical and Population Genomics group explored the genetics of developmental, behavioural and cognitive traits. He focused on understanding the relationship between rare coding variants and sex differences in autism prevalence. He also worked with the group on curating exome sequencing data from UK Birth Cohorts and leveraging these data to understrand the genetics of cognitive traits in the population. Additionally, he explored the differntial effects of rare coding and non-coding variants on cognitive traits in UK Biobank.

Before joining Sanger, Mahmoud worked on studying the role of coding genetic variants in genetic predisposition to epilepsy. His doctorate focused on using exome sequencing in small and large scale cohorts to understrand the genetic causes of rare and common epilepsy syndromes. He also worked on predicting and functionally validating the electrophysiological consequences of rare coding variants in ion channels.

Previously, Mahmoud worked with the Sudanese Neurogenetics research group on investigating novel and known genetic causes of neurodegenerative and neurodevelopmental diseases in consanguineous Sudanese families. This work explored a range of conditions including spinocerebellar degeneration, developmental disorders, epilepsy, and movement disorders.

 

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