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Dr Symon Kariuki with associates looking at laptop

Which Genetic Risk Factors Are Involved in Epilepsy and Mental Health Conditions?

Principal investigator: Dr Symon Kariuki
Location: Kenya
Research award: Fellows Award
Funding Period: 2018-2021

Dr Symon Kariuki is looking at genetic information from sub-Saharan African populations to understand more about epilepsy and mental illness.

Studies have shown that epilepsy, a neurological disorder where people have a tendency to experience seizures, often co-occurs with mental health conditions. And it is thought that genetics are key to understanding why that is the case.

Dr Symon Kariuki has been investigating which genetic risk factors are involved in epilepsy and mental health conditions, offering hope of improved treatments for those affected.

 

The project

Genetic codes in DNA give the instructions for how our bodies are built.  The study’s aim is to investigate the genetic susceptibility and interaction between epilepsy, autism, and psychosis in African populations, where these conditions are both common and under-researched. African populations have a greater diversity in their genes but at the moment, most genetic research involves caucasian people. This novel approach – of studying different ethnicities – offers potential to find important new genetic risk factors, which could impact mental health care on a global scale.

We know that certain genetic codes can put someone at a greater risk of developing diseases and can be used to understand which pathways might be going awry.  Symon is interested in discovering the genetic risk factors that put someone at increased vulnerability to epilepsy and mental illness.

 

The process

By leveraging existing DNA samples from African cohorts, the project seeks to identify genetic risk factors and their overlap, with the ultimate goal of improving understanding and treatment of these conditions.

The project was designed as a series of case-control studies, comparing individuals with epilepsy (approximately 800 participants), autism (around 600), and psychosis (about 1,550) to matched controls. The research methods included genotyping and exome sequencing of samples, polygenic risk scoring, and analysis of rare genetic variants. The team collaborated with international consortia such as MalariaGEN, the Stanley Centre, and Epi25, and placed strong emphasis on community engagement and public involvement, including running free clinics and conducting media outreach.

Additionally, a Stage II clinical trial was launched to train clinicians in identifying and managing mental health problems.

 

The outcome

Symon and his team discovered  new genetic variants relevant to epilepsy and psychosis.

They also found evidence that traumatic life events are highly prevalent among people with psychosis in Kenya.

The project itself also had a number of practical outcomes:

    • Significant increase in patients accessing free epilepsy and mental health clinics (from 2,000 to 3,600)
    • Increased representation of African populations in global genetic studies
    • Validation of the Kessler Psychological Distress Scale (K10) for use in Kenya.

 

Published papers

 

 

The impact

This study enhanced global understanding of the genetic basis of epilepsy, autism, and psychosis, especially in underrepresented African populations. It also made a significant contribution of African genomic data to international consortia.

Dr Symon Kariuki

Dr Symon Kariuki is a researcher working in the KEMRI-Wellcome Trust Research Programme, a partnership between the Kenya Medical Research Institute, Wellcome Trust and the University of Oxford.

This project is jointly funded with The Stanley Center for Psychiatric Research at the Broad Institute.

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