Paediatric Neurologist / Clinical Trials Investigator
Dr Eppie Yiu is a paediatric neurologist at the Royal Children’s Hospital Melbourne and an honorary fellow at the Murdoch Children’s Research Institute. She underwent training in paediatric neurology at The Royal Children's Hospital Melbourne and The Hospital for Sick Children in Toronto. She completed her PhD in 2013 in neurogenetic disorders, which included studies in Charcot-Marie-Tooth disease and an investigator-initiated trial Friedreich ataxia. She was awarded a NHMRC early career fellowship for her post doctoral studies, during which she lead development of international best practice guidelines for Charcot-Marie-Tooth disease. Eppie continues to have a special interest in neuromuscular disorders as well as demyelinating disorders such as multiple sclerosis. She has extensive experience an investigator in both investigator-initiated and industry-sponsored clinical drug trials in neuromuscular disorders and multiple sclerosis.
Selected Publications:
1. 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 Apr 1;22(7):1404-16. *co-first authors
2. Yiu EM, Brockley CR, Lee KJ, Carroll K, de Valle K, Kennedy R, Rao P, Delatycki MB, Ryan MM. Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A. Neurology. 2015 Feb 10;84(6):569-74.
3. Yiu EM, Tai G, Peverill RE, Lee KJ, Croft KD, Mori TA, Scheiber-Mojdehkar B, Sturm B, Praschberger M, Vogel AP, Rance G, Stephenson SE, Sarsero JP, Stockley C, Lee CY, Churchyard A, Evans-Galea MV, Ryan MM, Lockhart PJ, Corben LA, Delatycki MB. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol. 2015 May;262(5):1344-1353
4. Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med. 2017 Nov 2;377(18):1723-1732.