Pathogenic repeat expansions in ataxia: advancing gene discovery and genetic diagnosis [ 2020-05-20T00:00:00 ]

Research Grant

Brief description Hereditary ataxia is a severe neurological disorder that results in impaired coordination and balance and affects 1 in 20,000 Australians. Ataxias are often caused by complex genetic mutations called repeat expansions (RE), which are difficult to detect. Therefore, genetic diagnosis of ataxia remains limited and poorly accessible, leading to a gap in clinical care. In this study, we will utilise modern advances in genetic sequencing technology to diagnose and discover ataxias caused by REs.

Funding Amount $645,205

Funding Scheme Investigator Grants

Chief Investigator Dr Haloom Rafehi

Notes Emerging Leadership 1