WEHI Wednesday Seminar hosted by Professor Melanie Bahlo
 

Dr Haloom Rafehi

Senior Research Officer – Bahlo Laboratory, Genetics and Gene Regulation division, WEHI

Decoding the genetic landscape of cerebellar ataxias

 

Davis Auditorium

Join via SLIDO enter code #WEHIWednesday

Including Q&A session
 

Cerebellar ataxias are progressive neurogenetic disorders often caused by a genetic mutation type known as repeat expansions which occur when short tandem repeats are expanded, pushing them over thresholds that then cause disease. Cerebellar ataxias are underdiagnosed, with an estimated prevalence of 1 in 10,000. Genetic discovery and diagnosis have been challenging due to the difficulties of detecting repeat expansions through conventional detection methods.

Recent advances in bioinformatics and long-read sequencing have enabled the discovery of novel pathogenic REs, including two common adult-onset CA forms (CANVAS and SCA27B), accounting for 30% of unsolved cases. Our ataxia research program has provided rapid genetic diagnosis to hundreds of Australians, though more than half of CA patients still remain undiagnosed. This seminar will highlight the recent progress in the field of ataxia and repeat expansion genetics and discuss future work needed for the continued discovery and novel ataxia genes.

All welcome!