Coming from Dubai, this episode of NeuroCentury, is devoted to advances in genetics and their impact on the treatment of brain disorders. Paweł Świeboda talks to Mohammed Uddin, a human geneticist with a focus on the genetics neurological and neuropsychiatric disorders. Mohammed is Professor at the University of Medicine and Health Sciences in Dubai, an important emerging hub for genomic medicine.
Entire buckets of genes are now established in genome-wide discovery studies. Yet, the pathway towards understanding the underlying biology is not always obvious. Many genes might be plausible candidates for associated variants. Most traits are polygenic, and many genetic variants have small effect. In this context, the episode covers the future of clinical genomics, with emphasis on mass scale modelling to characterize variants of uncertain significance, the use of Machine Learning in variant detection, single cell sequencing and the Pangenome initiative to identify population-specific risk factors
The conversation zooms in on Autism Spectrum Disorder, a neurodevelopmental disorder affecting 1 in 44 children globally. Over 100 genes have been identified to be strongly associated with the ASD. Mohammed’s work has shown that non-neuronal cells, the astrocytes, play a strong role in the development of autism.
Mohammed has recently launched a startup GenomeArc with a platform for ultrafast genome variant classification and interpretation. In the conversation, he explains why it is so important to obtain this type of rapid reading of the genome.
#neurocentury #genetics #genomicmedicine #brainhealth
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Music for the NeuroCentury podcast is composed by Rafał Kulczycki
