Rare Disease Genetics and Functional Genomics
Dr Gina Ravenscroft
Rare Disease Genetics and Functional Genomics
Dr Gina Ravenscroft
Dr Gina Ravenscroft received her PhD in 2009 from the University of Western Australia. In 2011 she was awarded an NHMRC Early Career Fellowship (2011-2016) to continue to work in the Group of Prof Nigel Laing AO at the Harry Perkins Institute of Medical Research. She is currently an NHMRC Career Development Fellow and Senior Research Fellow at the University of Western Australia. She is also the Honorary Patricia Verne Kailis Fellow. In 2020, Dr Ravenscroft established her own research group at the Harry Perkins Institute of Medical Research. Her Rare Disease Genetics and Functional Genomics Group will continue to work closely with the Preventive Genetics Group of Prof Nigel Laing AO.
Her research interests are in rare genetic diseases, with a particular focus on neurogenetic diseases in babies and children. Dr Ravenscroft has identified more than 10 novel human disease genes in recent years. She continues to identify novel human disease genes and investigate the pathobiology associated with genetic defects using a range of laboratory-based assays. Dr Ravenscroft collaborates with her extensive network of clinical and research colleagues from across Australia and around the world on these disease gene discovery projects.
She is recognised as a world leader in fetal akinesias and congenital myopathies. In 2016, she was named Young Myologist of the Year at the 2016 International Congress of the World Muscle Society. In the same year she was named an Australian Institute of Policy and Science Young Tall Poppy. In 2020, Dr Ravenscroft was made an Associate Member of the Australian Academy of Health and Medical Sciences.
Dr Ravenscroft is also a committed long-term advocate for medical research and early- and mid-career researchers. She is currently Secretary of the National Association of Research Fellows (NARF) and Chair of the Harry Perkins Institute’s EMCR Committee. She served on the Executive of the Australian Academy of Science’s EMCR Forum (2018-2019) and has in the past been an active committee member with the Australian Society of Medical Research and UWA Researchers’ Association.
NHMRC Career Development Fellow
Honorary Patricia Verne Kailis Fellow
- Gene discovery in severe, early-onset diseases
- Gene discovery in neuropathies
- The fundamental biology of skeletal muscle in health and disease.
- The skeletal muscle regulome
- Transcriptomic profiling in muscle disease
- Functional genomics
- Biobanking and generation of patient-derived iPSCs
- Genetics of recurrent miscarriage
- RAVENSCROFT G*, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, P Moon, P McGrath, B Kamien, M Edwards, M Delatycki, PJ Lamont, S Chan, A Colley, A Ma, G McGillivray, S Ghedia, K Chao, A O’Donnell-Luria, NG Laing, MR Davis. (2020). Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. J Med Genet
This paper describes the combined diagnostic and research findings from 81 cases with a genetic diagnosis from a cohort of 190. This includes a number of phenotype expansions for known genes and details 50 novel variants not previously associated with disease. All variants have been entered into the Leiden Open Variant Database (LOVD) such that these findings can be of clinical utility for families across the globe.
- CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, N Dominik, M Rodrigues, E Walker, Z Dyer, TY Wu, MR Davis, DC Chandler, B Weisburd, H Houlden, MM Reilly, NG Laing, PJ Lamont, Richard H. Roxburgh, G RAVENSCROFT*. (2020). A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain
- PB Martin, Y Kigoshi-Tansho, RB Sher, G RAVENSCROFT, JE Stauffer, Kumar, Ryo Yonashiro, Tina Müller, Christopher Griffith, William Allen, Davut Pehlivan, T Haral, M Zenker, D Howting, D Schanze, G Douglas, JE Posey, M Ryan, JR Lupski, NG Laing, Claudio A.P. Joazeiro, GA Cox. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease. Nature Commun 11(1), 4625. https://pubmed.ncbi.nlm.nih.gov/32934225/
- RAVENSCROFT G, Olivé M, Engvall M, , Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. (2019). Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic inclusions. Nat Commun 10(1), 1396. https://pubmed.ncbi.nlm.nih.gov/30918256/
- RAVENSCROFT G, Zaharieva I, Bortolotti CA, Lambrughi, M, Pignataro M, Borsari M, Sewry CA., Phadke, R., Haliloglu, G., Ong, R., Goullee, H., Whyte, T., Uk K. Consortium, Manzur A, Talim B, Kaya U, Osborn DP, Forrest A, Laing NG. (2018). Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet 27, 4263-4272. https://pubmed.ncbi.nlm.nih.gov/30215711/
- RAVENSCROFT G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG. (2015) Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita. Am J Hum Genet 96:955-961. https://pubmed.ncbi.nlm.nih.gov/26004201/
- RAVENSCROFT G, Laing NG, Bonnemann CG. (2015) Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. Brain 138(Pt 2), 246-68. https://pubmed.ncbi.nlm.nih.gov/25552303/
- Garg A, O’Rourke J, Long C, Doering J, RAVENSCROFT G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson, EN. (2014) KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest 124, 3529-3539. https://pubmed.ncbi.nlm.nih.gov/24960163/
- RAVENSCROFT G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG. (2013) Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy. Am J Hum Genet 93(1):6-18. https://pubmed.ncbi.nlm.nih.gov/23746549/
- RAVENSCROFT G, Jackaman C, Bringans S, Papadimitriou JM, Griffiths LM, McNamara E, Bakker AJ, Davies KE, Laing NG, Nowak KJ. (2011) Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies. Brain 134:1101-1115. https://pubmed.ncbi.nlm.nih.gov/21303860/