Genetic and Clinical Heterogeneity of Perrault syndrome – a rare recessive condition of hearing loss, ovarian insufficiency and neuropathy

Location: 661 University Avenue MaRS Centre, West Tower Rm. 1622

When: September 16, 2025 11:00AM - 12:00PM

Speaker: Dr. William G. Newman 
Professor, Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health Sciences, University of Manchester, Manchester, UK

Dr. Newman’s work has focused on rare condition genetic discovery. His work has led to the identification of many disease associated genes, including the clinically and genetically heterogeneous Perrault syndrome characterized by hearing loss and ovarian insufficiency. Biallelic variants in at least seven separate genes, including CLPP, TWNK, ERAL1, HARS2, LARS2, DAP3 and MRPL49 have collectively been implicated in Perrault syndrome, where dysregulation of mitochondrial protein synthesis and homeostasis appears to play a common etiological role

Poster: BIll Newman_Sept 16_2025.pdf