Assoc Prof Michael Fahey - Researcher Profile

Michael Fahey

Address

Department of Paediatrics, Level Four
Southern Clinical School, Clayton

Biography

Dr Michael Fahey
Monash Southern Clinical School
Monash Medical Centre
Telephone: +61 3 9594 3499
Email: Michael.Fahey@monash.edu

 Areas of expertise

Commentary: Paediatric neurology; Neurogenetics.

 

Supervision: Neurology; Neurogenetics; Cerebral palsy.

Neurogenetics

 

In Australia, a child is born with Cerebral Palsy every 18 hours. As a physician and the Head of Paediatric Neurology at Monash Medical Centre, Dr Michael Fahey is too familiar with the human face of the condition. However, as a researcher specialising in neurogenetics, Michael also knows there is work underway that could one day lead to a cure.

 

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Neurogenetics is concerned with the link between our genes and the diseases and disorders of the nervous system.  Michael's research focuses on using neurogenetics to understand the causes of movement disorders and diseases of the muscle and nerve.  These include Cerebral Palsy, a disease that affects thousands of Australians.

 

While scientific researchers of Michael's standing - he has undertaken research and training with Monash University, Melbourne University, the Royal Australasian  College of Physicians, the Alfred Hospital, Sydney Children's Hospital and the Murdoch Children's Research Institute - are cautious about raising expectations about the possibility of finding a cure for disorders such as Cerebral Palsy, he is excited by the insights genetic research is generating.

 

"The next stage of research into these conditions is going to be to try and evolve treatments for them," Michael says.

 

"At the moment these are conditions which we are becoming increasingly good at diagnosing and a genetic diagnosis will allow us to understand the mechanisms behind the disease.  Our hope is that for many of the conditions that we're looking at treatments that will be developed within my working lifespan.

 

"this is about moving beyond managing the disease to actively look for cures.  That's our motivation, and I hope this is real.  This kind of research works on long timescales, I think that's fair to say, but it's always hoped that treatments will evolve quickly from the discover of the causes behind the condition."

 

Michael believes that Monash and its network of partners are in a great position to be world leaders in the field.  He is currently collaborating on research into treatments for Cerebral Palsy with researchers at the Ritchie Centre, part of the Monash Institute of Medical Research.  The work has evolved out of Ritchie Centre strengths in women's health and foetal and newborn medicine.  It focuses on melatonin, a hormone produced in the brain, and Michael is confident the research will soon move to human trials.

 

In addition to working with the Ritchie Centre, Michael also collaborates on gene discovery research with Genetic Health Services Victoria and experts at the Alfred Hospital.  He is also involved in the treatment of rare neuro-metabolic diseases with partners at the Royal Melbourne Hospital.

 

Outside of the lab, Michael maintains a heavy workload as a physician.  He is Head of the Paediatric Neurology Unit at Monash Medical Centre, and works in neurogenetics clinics at the Royal Melbourne and St Vincents Hospitals.  He is also collaborating with Professor Elsdon Storey, Head of the Neurology and Stroke Unit at the Alfred.  He still finds the time to act as neurologist at the Paediatric Rehabilitation Clinic and has co-founded a mitochondrial clinic. 

 

 

Qualifications

DOCTOR OF PHILOSOPHY
Institution: University of Melbourne
Year awarded: 2007
FELLOWSHIP ROYAL AUSTRALASIAN COLLEGE OF PHYSICIAN
Institution: Royal Australasian College of Physicians
Year awarded: 2004
MB BS
Institution: Monash University
Year awarded: 1993

Publications

Journal Articles

Walterfang, M., Abel, L., Desmond, P., Fahey, M.C., Bowman, E., Velakoulis, D., 2013, Cerebellar volume correlates with saccadic gain and ataxia in adult Niemann-Pick type C, Molecular Genetics And Metabolism [P], vol 108, issue 1, ACADEMIC PRESS INC ELSEVIER SCIENCE, UNITED STATES, pp. 85-89.

Goergen, S.K., Pool, F., Turner, T.J., Grimm, J.E., Appleyard, M.N., Crock, C., Fahey, M.C., Fay, M.F., Ferris, N., Liew, S., Perry, R.D., Revell, A., Russell, G.M., Wang, S.S., Wriedt, C.J., 2013, Evidence-based guideline for the written radiology report: Methods, recommendations and implementation challenges, Journal of Medical Imaging and Radiation Oncology [P], vol 57, issue 1, WILEY-BLACKWELL, AUSTRALIA, pp. 1-7.

Weir, K.A., Bell, K.L., Caristo, F., Ware, R., Davies, P.S., Fahey, M.C., Rawicki, B., Boyd, R.N., 2013, Reported Eating Ability of Young Children with Cerebral Palsy: Is There an Association with Gross Motor Function?, Archives Of Physical Medicine And Rehabilitation [P], W B SAUNDERS CO-ELSEVIER INC, UNITED STATES.

Kearney, M., Orrell, R., Fahey, M., Pandolfo, M., 2012, Antioxidants and other pharmacological treatments for Friedreich ataxia (Review), Cochrane Database of Systematic Reviews [P], vol 4, issue Art. No. CD007791, John Wiley & Sons Ltd, United Kingdom, pp. 1-27.

Wijburg, F., Sedel, F., Pineda, M., Hendriksz, C., Fahey, M.C., Walterfang, M., Patterson, M.C., Wraith, J., Kolb, S., 2012, Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C, Neurology [P], vol 78, issue 20, Lippincott Williams & Wilkins, United States, pp. 1560-1567.

Solarsh, G.C., Lindley, J.M., Whyte, G.S., Fahey, M.C., Walker, A.M., 2012, Governance and assessment in a widely distributed medical education program in Australia, Academic Medicine [P], vol 87, issue 6, Lippincott, Williams and Wilkins, Philadelphia USA, pp. 1-8.

Walterfang, M., Macfarlane, M.D., Looi, J.C.L., Abel, L., Bowman, E., Fahey, M.C., Desmond, P.M., Velakoulis, D., 2012, Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C, European Journal Of Neurology [P], vol 19, issue 3, Wiley-Blackwell Publishing Ltd, United Kingdom, pp. 462-467.

Thompson, M.J., Gowdie, P.J., Kirkwood, C.D., Doherty, R.R., Fahey, M.C., 2012, Rotavirus Cerebellitis: New Aspects to an Old Foe?, Pediatric Neurology [P], vol 46, ELSEVIER SCIENCE INC, UNITED STATES, pp. 48-50.

Abel, L., Bowman, E., Velakoulis, D., Fahey, M.C., Desmond, P., Macfarlane, M.D., Looi, J.C.L., Adamson, C., Walterfang, M., 2012, Saccadic eye movement characteristics in adult Niemann-Pick Type C Disease: Relationships with disease severity and brain structural measures, PLoS ONE [P], vol 7, issue 11, PUBLIC LIBRARY SCIENCE, UNITED STATES, pp. 50947-50953.

Evans-Galea, M., Corben, L., Hasell, J., Galea, C., Fahey, M., Du Sart, D., Delatycki, M., 2011, A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype, Neurogenetics [P], vol 12, issue 4, Springer, Germany, pp. 307-313.

White, S., Fahey, M., 2011, Report of a Further Family with Dominant Deafness-Onychodystrophy (DDOD) Syndrome, American journal of medical genetics. Part A [E], vol 155a, issue 10, WILEY-BLACKWELL, COMMERCE PLACE, 350 MAIN ST, MALDEN 02148, MA,, pp. 2512-2515.

Leonard, J., Cozens, A., Reid, S., Fahey, M., Ditchfield, M., Reddihough, D., 2011, Should children with cerebral palsy and normal imaging undergo testing for inherited metabolic disorders?, Developmental Medicine And Child Neurology [P], vol 53, issue 3, Wiley-Blackwell Publishing Ltd, United Kingdom, pp. 226-232.

Walterfang, M., Fahey, M.C., Abel, L., Fietz, M., Wood, A., Bowman, E., Reutens, D., Velakoulis, D., 2011, Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables, AJNR. American journal of neuroradiology [P], vol 32, issue 7, American Society of Neuroradiology, United States, pp. 1340-1346.

Fahey, M., Wallace, E., 2011, Stem cells: Research tools and clinical treatments, Journal Of Paediatrics And Child Health [P], vol 47, issue 9, Wiley-Blackwell Publishing Ltd, United Kingdom, pp. 672-675.

Leonard, J.M., Cozens, A.L., Reid, S.M., Fahey, M.C., Ditchfield, M., Reddihough, D., 2011, The diagnostic implications of a normal MRI scan in cerebral palsy, Developmental Medicine And Child Neurology [P], vol 53, issue 12, WILEY-BLACKWELL, ENGLAND, p. 1161.

Corben, L.A., Delatycki, M.B., Bradshaw, J.L., Horne, M.K., Fahey, M.C., Churchyard, A.J., Georgiou-Karistianis, N., 2010, Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction, Journal of Neurology [P], vol 257, Dr. Dietrich Steinkopff Verlag, Germany, pp. 782-791.

Whittingham, K., Fahey, M.C., Rawicki, B.H., Boyd, R.N., 2010, The relationship between motor abilities and early social development in a preschool cohort of children with cerebral palsy, Research in Developmental Disabilities [P], vol 31, issue 6, Pergamon, UK, pp. 1346-1351.

Walterfang, M., Fahey, M., Desmond, P., Wood, A., Seal, M., Steward, C., Adamson, C., Kokkinos, C., Fietz, M., Velakoulis, D., 2010, White and gray matter alterations in adults with Niemann-Pick disease type C, Neurology [P], vol 75, LIPPINCOTT WILLIAMS & WILKINS, UNITED STATES, pp. 49-56.

Storey, E., Bahlo, M., Fahey, M.C., Sisson, O., Lueck, C.J., Gardner, R.J.M., 2009, A new dominantly inherited pure cerebellar ataxia, SCA 30, Journal of Neurology, Neurosurgery and Psychiatry, vol 80, issue 4, BMJ Group, UK, pp. 408-411.

Kearney, M., Orrell, R.W., Fahey, M.C., Pandolfo, M., 2009, Antioxidants and other pharmacological treatments for Friedreich ataxia, Cochrane Database of Systematic Reviews [P], vol 5.182, issue CD007791, John Wiley & Sons, Ltd, UK, pp. 1-27.

Burns, J., Ouvrier, R.A., Yiu, E.M., Joseph, P.D., Kornberg, A.J., Fahey, M.C., Ryan, M.M., 2009, Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial, Lancet Neurology [P], vol 8, issue 6, The Lancet Publishing Group, UK, pp. 537-544.

Clark, M.T., Brooks, E.L., Chong, W., Pappas, C., Fahey, M.C., 2008, Cobb syndrome: a case report and systematic review of the literature, Pediatric Neurology, vol 39, issue 6, Elsevier Inc, USA, pp. 423-425.

Clarke, N.F., Kolski, H., Dye, D.E., Lim, E., Smith, R.L.L., Patel, R., Fahey, M.C., Bellance, R., Romero, N.B., Johnson, E.S., Labarre-Vila, A., Monnier, N., Laing, N.G., North, K.N., 2008, Mutations in TPM3 are a common cause of congenital fiber type disproportion, Annals Of Neurology [P], vol 63, issue 3, John Wiley & Sons, Inc., USA, pp. 329-337.

Fahey, M.C., Cremer, P.D., Aw, S.T., Millist, L., Todd, M., White, O., Halmagyi, M., Corben, L., Collins, V., Churchyard, A., Tan, K., Kowal, L., Delatycki, M., 2008, Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia, Brain [P], vol 131, OXFORD UNIV PRESS, ENGLAND, pp. 1035-1045.

Fahey, M.C., Corben, L.A., Collins, V., Churchyard, A.J., Delatycki, M.B., 2007, How is disease progress in Friedreich's ataxia best measured? A study of four rating scales, Journal of Neurology Neurosurgery and Psychiatry, vol 78, issue 4, BMJ Publishing Group, UK, pp. 411-413.

Wilson, C.L., Fahey, M.C., Corben, L.A., Collins, V., Churchyard, A.J., Lamont, P.J., Delatycki, M.B., 2007, Quality of life in Friedreich ataxia: What clinical, social and demographic factors are important?, European Journal of Neurology, vol 14, issue 9, Blackwell Publishing, Oxford, UK, pp. 1040-1047.

Fahey, M.C., Corben, L.A., Collins, V., Churchyard, A.J., Delatycki, M.B., 2007, The 25-foot walk velocity accurately measures real world ambulation in Friedreich ataxia, Neurology, vol 68, issue 9, Lippincott Williams & WIlkins, USA, pp. 705-706.

Walterfang, M., O'Donovan, J., Fahey, M., Velakoulis, D., 2007, The Neuropsychiatry of Adrenomyeloneuropathy, CNS Spectrums [P], vol 12, issue 9, M B L COMMUNICATIONS, INC, 333 HUDSON ST, 7TH FLOOR, NEW YORK, NY 10013, pp. 696-701.

Fielding, J., Georgiou-Karistianis, N., Millist, L., Fahey, M.C., White, O.B., 2006, Saccadic trajectory in Huntington's disease, Journal of the International Neuropsychological Society, vol 12, issue 4, Cambridge University Press, New York USA, pp. 455-464.

Walterfang, M., Fietz, M.J., Fahey, M.C., Sullivan, D., Leane, P., Lubman, D.L., Velakoulis, D., 2006, The neuropsychiatry of Niemann-Pick type C disease in adulthood, Journal Of Neuropsychiatry And Clinical Neurosciences [P], vol 18, issue 6, American Psychiatric Publishing Inc., USA, pp. 158-170.

Corben, L.A., Georgiou-Karistianis, N., Fahey, M.C., Storey, E., Churchyard, A.J., Horne, M., Bradshaw, J.L., Delatycki, M.B., 2006, Towards an understanding of cognitive function in Friedreich ataxia, Brain Research Bulletin, vol 70, issue 3, Elsevier, Kidlington England, pp. 197-202.

Vinton, A., Fahey, M.C., O'Brien, T.J., Shaw, J.H., Storey, E., Gardner, R.J.M., Mitchell, P.J., Du Sart, D., King, J.O., 2005, Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent, American Journal of Medical Genetics, vol 136 A, issue 2, John Wiley and Sons, Inc., USA, pp. 201-204.

Fahey, M.C., Knight, M., Shaw, J.H., Gardner, R.J.M., Du Sart, D., Lockhart, P.J., Delatycki, M.B., Gates, P.C., Storey, E., 2005, Spinocerebellar ataxia type 14: Study of a family with an exon 5 mutation in the PRKCG gene, Journal of Neurology, Neurosurgery and Psychiatry, vol 76, issue 12, BMJ Publishing Group, UK, pp. 1720-1722.

White, S., Thompson, E., Kidd, A., Savarirayan, R., Turner, A., Amor, D., Delatycki, M., Fahey, M., Baxendale, A., White, S., Haan, E., Gibson, K., Halliday, J., Bankier, A., 2004, Growth, Behavior, and Clinical Findings in 27 Patients with Kabuki (niikawa-Kuroki) Syndrome, American Journal Of Medical Genetics Part A [P], vol 127A, WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030, pp. 118-127.

MacLennan, S., Fahey, M., Lawson, J., 2004, Pharyngeal-Cervic al-Brachial Variant Guillain-Barre Syndrome in a Child, Journal of Child Neurology [P], vol 19, issue 8, Sage Publications, Inc., United States, pp. 626-627.

Kahler, S., Fahey, M., 2003, Metabolic Disorders and Mental Retardation, American Journal Of Medical Genetics Part C-Seminars In Medical Genetics [P], vol 117C, John Wiley & Sons, Inc., United States, pp. 31-41.