Mahmoud Koko Musa

Postdoctoral Fellow

I studied medicine and did a masters in molecular medicine at the University of Khartoum, then went on to do a doctorate in cellular and molecular neuroscience at the University of Tuebingen. My research focuses on studying the patterns, properties and consequences of rare coding variants in individuals, families and populations, both in health and disease. I have strong expertise in rare variant analysis from exome sequencing data.

I joined Sanger in 2022 as a postdoctoral fellow. My work in the Medical and Population Genomics group explores the genetics of developmental, behavioural and cognitive traits. My focus is on understanding the relationship between rare coding variants and sex differences in autism prevalence. We also work on curating exome sequencing data from UK Birth Cohorts and leveraging these data to understrand the genetics of cognitive traits in the population.

Previously, I worked on studying the role of rare genetic variants in common and rare epilepsy syndromes. My doctorate focused on using exome sequencing in small and large scale cohorts to understrand the genetic causes of devemopmental eepilepsy sydromes as well as the genetic predisposition to less severe epilepsy presentations. I also worked on predicting and functionally validating the electrophysiological consequences of rare coding variants in ion channels and their relationship with epilepsy and other neurological conditions.

Since 2013, I work with several Sudanese colleagues and collaborators on studying the genetics of the Sudanese population in health and disease. We work extensively on investigating novel and known genetic causes of neurodegenerative and neurodevelopmental diseases in consanguineous Sudanese families in a range of conditions including spinocerebellar degeneration, developmental disorders, epilepsy, and movement disorders. We are also using exome and genome sequencing to understand the population diversity and history.


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