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Professor Monique Ryan
Associate Professor Ryan's qualifications include Bachelor Degrees in Medicine and Surgery (University of Melbourne, 1991), fellowship of the Royal Australasian College of Physicians (1998) and a Master's degree in Medicine (University of Sydney, 2001).
She completed subspecialty training in paediatric neurology in Sydney, a neurology residency at the Children's Hospital Boston, and a neurophysiology fellowship at the Lahey Clinic, Boston Massachusetts.
Career highlights include awards for clinical research from the Child Neurology Society (USA) (2000), American Academy of Neurologists (2002), and the XIth International Congress on Neuromuscular Disorders (2006).
- 2006: Best Oral Presentation (Nerve or Neuromuscular Junction), XIth International Congress on Neuromuscular Disorders, Istanbul Turkey
- 2002: Founders' Award for Clinical Research by a Neurologist-in-Training, American Association of Neurologists
- 2000: Caroline Margaret Duncan Award, Southern Pediatric Neurology Society (USA)
- 2000: Von L Meyer Fellowship, Children's Hospital, Boston
- 2000: Outstanding Junior Member, Child Neurology Society (USA)
Associate Professor Ryan is head of the multidisciplinary Neuromuscular Clinic and Neuromuscular Research Unit at The Royal Children's Hospital (RCH) which includes a growing team of clinicians and researchers aimed at improving diagnosis and management of children affected by muscular dystrophies, myopathies and neuropathies.
She is a board member of the Australian and New Zealand Child Neurology Society and Cooperative International Neuromuscular Research Group (CINRG), head of the Clinical Trials group in the Australian Neuromuscular Network, and an associate member of the international TREAT-NMD therapeutics advisory committee. Her current research interests include natural history studies and clinical trials of new therapeutics for paediatric neuromuscular disorders such as Duchenne muscular dystrophy, Charcot-Marie-Tooth disease and spinal muscular atrophy.
- Clinical trials into antisense oligonucleotide and nonsense–mediated read-through of Duchenne muscular dystrophy, bisphosphonate therapy and Nutriceuticals for DMD, and antisense oligonucleotide therapy for spinal muscular atrophy type 1.
Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM. Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol. 2009;8:537-544
Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium incl Ryan MM, Freeman JL, Dobyns WB, Baas F, Poll-The BT. Clinical,neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 2011;134:143-156
Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM, McDonald CM, On behalf of the Cooperative International Neuromuscular Research Group. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology 2011;76:219-226
Rance G, Ryan MM, Bayliss K, Gill K, O'Sullivan C, Whitecross M. Auditory function in children with Charcot-Marie-Tooth disease. Brain 2012;135(Pt 5):1412-1422
Wan J, Yourshaw M, Mamsa H, Rudnik-Schöneborn S, Menezes MP, Hong JE, Leong DW, Senderek J, Salman MS, Chitayat D, Seeman P, von Moers A, Graul-Neumann L, Kornberg AJ, Castro-Gago M, Sobrido MJ, Sanefuji M, Shieh PB, Salamon N, Kim RC, Vinters HV, Chen Z, Zerres K, Ryan MM, Nelson SF, Jen JC. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet. 2012;44:704
Ryan MM. Pediatric Guillian-Barré syndrome. Curr Opin Pediatr 2013;25:689-693
Foley AR, Quijano-Roy S, Collins J, Straub V, McCallum M, Deconinck N, Mercuri E, Pane M, D'Amico A, Bertini E, North K, Ryan MM, Richard P, Allamand V, Hicks D, Lamandé S, Hu Y, Gualandi F, Auh S, Muntoni F, Bönnemann CG. Natural history of pulmonary function in collagen VI-related myopathies. Brain. 2013;136(Pt 12):3625-33
Rudnik-Schöneborn S, Senderek JC, Jen JC, Houge G, Seeman PJ, Puchmajerová A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hübner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth A, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K. Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology 2013; 80:438-446
Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Zuchner S, Ryan MM, Nicholson GA. A new locus for X-linked dominant Charcot Marie Tooth Disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum Mol Genet 2013;22:1404-1416
Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J,
Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski
JR, Eng CM, Muzny DM, Yang Y, Gibbs RA.
ef="http://www.ncbi.nlm.nih.gov/pubmed/24791903">De novo truncating mutations in AHDC1 in individuals with syndromic
expressive language delay, hypotonia, and sleep apnea.
Am J Hum Genet.