Influence of rare variants on autism prevalence

Includes a Live Web Event on 05/14/2025 at 12:00 PM (EDT)

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Mahmoud Koko, MBBS, Dr rer nat, will discuss findings from a meta-analysis of two large autism cohorts investigating the extent to which damaging coding variants influence a person's chances of having an autism diagnosis, and whether this influence varies by sex.

Overview of Presentation:

There are notable sex differences in autism prevalence. This work asks whether autosomal rare variants contribute to this disparity.
We found that the effects of rare damaging variants on the chances of having an autism diagnosis were similar between sexes.
These variants, however, were not sufficient on their own to reach the diagnostic threshold for autism.
When disrupted, autism-linked genes were more likely to predispose to neurodevelopmental disorders in general than autism specifically.

Mahmoud Koko, MBBS, Dr rer nat

Postdoctoral Fellow

Hilary Martin's Lab, Wellcome Sanger Institute

Mahmoud Koko, MBBS, Dr rer nat, is a postdoctoral fellow at Sanger Institute, UK. His research has focused on studying the influence of rare variants on neurological conditions. He graduated from the Faculty of Medicine, University of Khartoum and obtained his PhD in neuroscience from the University of Tübingen. He joined Hilary Martin's Lab at Sanger in 2022 to study the influence of rare genetic variants on autism, developmental conditions, and cognitive traits.

Hilary C. Martin, DPhil (Oxon)

Group Leader

Wellcome Sanger Institute

Hilary is a Group Leader at the Wellcome Sanger Institute. Her work addresses various medical and population genetic questions by integrating genomic data from large clinical cohorts, biobanks, and birth cohorts. She completed her PhD in Oxford in before taking up a postdoctoral position at Sanger where she started her own group in 2018. The group studies the contribution of common and rare variants to neurodevelopmental conditions and cognitive traits, as well as to the genetic architecture of complex traits in South Asian populations.