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RNA SEQUENCING OF A SOUTH AFRICAN ASD COHORT

What Is The Study About?

Our research group studies how the genes linked to autism work in the cell. Previous research by our group showed that mitochondria are involved in Autism Spectrum Disorder (ASD). Mitochondria are special units inside a cell that are responsible for the metabolism and energy of the cell. Our current research builds on our earlier work and examines how genes affect mitochondrial function, and how mitochondrial function is linked to ASD. Genes are sections of DNA that give instructions for making specific types of building blocks (called proteins) in a cell via a special messaging system (called RNA). Genetic studies look at DNA sequences but transcriptomic studies look at RNA expression at one snapshot in time. 

Our study is using a transcriptomic approach to look at how RNA expression may result in changes to the function of mitochondria. The function of mitochondria may be linked to ASD. Participation in this study will involve a play-based assessment (you can think of it as a game) called the ADOS-2 (Autism Diagnostic Observation Schedule- 2nd Edition) and collection of biological material (urine, blood, and a buccal swab) from the study participants.

THANK YOU!

We would like to extend our appreciation to the families, schools, and most of all, the study participants that made this research possible. We are no longer recruiting for this study but, please look out for the results in the near future.

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