[S-08] Symposium 08「Oculopharyngodistal myopathy in Asian and Oceanian region」

[S-08-6] A CCG expansion in ABCD3 causes oculopharyngodistal myopathy

Gina Ravenscroft^1,2, Sarah J. Beecroft^1,2, Stefano G. Facchini³, Riccardo J. Curro³, Macarena Cabrera-serrano^2,9, Igor Stevanovski⁴, Sanjog Chintalaphani⁴, Hasindu Gamaarachchi⁴, Ben Weisburd⁵, Chiara Folland^1,2, Catriona Mclean⁶, Nigel G. Laing^1,2, Tanya Stojkovic⁷, Henry Houlden³, Michael Hanna³, Ira Deveson⁴, Paul Lockhart¹⁰, Phillipa Lamont⁹, Michael Fahey⁸, Enrico Bugiardini³, Andrea Cortese³ (1.University of Western Australia, 2.Harry Perkins Institute of Medical Research, 3.University College London, MRC Centre for Neuromuscular Diseases, 4.Garvan Institute of Medical Research, 5.Broad Institute of MIT and Harvard, 6.Department of Anatomical Pathology, Alfred Hospital, 7.Institut de Myologie, 8.Monash Children's Hospital, 9.Royal Perth Hospital, 10.Murdoch Children's Research Institute)

Associate Professor Ravenscroft is the Group Leader of the Rare Disease Genetics and Functional Genomics Group at the Harry Perkins Institute of Medical Research and a Principal Research Fellow at UWA. She is one of Australia’s foremost emerging medical research leaders and is the recipient of three consecutive NHMRC Fellowships. She currently holds a prestigious NHMRC Emerging Leadership 2 Fellowship. Her research focuses on the genetics of rare diseases. One particular focus has been neuromuscular diseases ranging from onset in utero to old age.

She has led or contributed to the discovery of >20 novel human disease genes. Discovery and characterisation of myoglobinopathy (Nat Comms) was highlighted as one of the Top 10 Neuromuscular Disease discoveries of 2019 (Margeta, 2020, Free Neuropath). Her research has immediate clinical translation. It provides much needed answers to families affected by devastating early onset genetic diseases. Many of her discoveries have resulted in prenatal or preimplantation genetic diagnosis for subsequent pregnancies helping couples avoid having further affected children.