Zarazuela Zolkipli-Cunningham, MBChB, MRCP

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Zarazuela Zolkipli-Cunningham, MBChB, MRCP, is an attending physician and the Clinical Research Director with Mitochondrial Medicine at Children's Hospital of Philadelphia.

Phone: 267-426-4961

Email: mmfp@email.chop.edu

Education and Training

Medical School

MBChB - Edinburgh University Medical School, Scotland, UK

Fellowship

Clinical Fellowship in General Pediatrics (Pediatrics and Neurometabolic Research) - Hospital for Sick Children, Toronto, ON
Mitochondrial Clinical Fellowship - Metabolic & Mitochondrial Disease Center (MMDC), University of California, San Diego, San Diego, CA
North American Mitochondrial Disease Consortium (NAMDC) Fellowship - University of California, San Diego, San Diego, CA
Neuromuscular - The Children's Hospital of Philadelphia, Philadelphia, PA

Board Certification

Child Neurology – American Board of Psychiatry and Neurology
Pediatrics – American Board of Pediatrics
Royal College of Pediatrics and Child Health (MRCPCH)

Titles and Academic Titles

Attending Physician

Clinical Research Director

Conditions Treated

Departments and Services

Publications

Papers

2019

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat. 2019 Feb 14. doi: 10.1002/humu.23723. [Epub ahead of print]

2018

McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr. 2018 Sep 7.[Epub ahead of print]

Glanzman AM, Mazzone ES, Young SD, Gee R, Rose K, Mayhew A, Nelson L, Yun C, Alexander K, Darras BT, Zolkipli-Cunningham Z, Tennekoon G, Day JW, Finkel RS, Mercuri E, De Vivo DC, Baldwin R, Bishop KM, Montes J. Evaluator Training and Reliability for SMA Global Nusinersen Trials1. J Neuromuscul Dis. 2018;5(2):159-166.

Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Wang X, Thompson JLP, Falk MJ. Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One. 2018 May 17;13(5):e0197513.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2018 Apr 5;102(4):713.

2017

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. Response to Newman et al. Genet Med. 2017 Dec;19(12).

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 Dec;19(12).

McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM. Hospitalizations for mitochondrial disease across the lifespan in the U.S. Mol Genet Metab. 2017 Jun;121(2):119-126. 

Kuszak AJ, Espey MG, Falk MJ, Holmbeck MA, Manfredi G, Shadel GS, Vernon HJ, Zolkipli-Cunningham Z. Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annu Rev Pathol. 2017 Nov 3. doi: 10.1146/annurev-pathol-020117-043644. [Epub ahead of print]

Zolkipli-Cunningham Z, Falk MJ. Clinical effects of chemical exposures on mitochondrial function. Toxicology. 2017 Nov 1;391:90-99. doi: 10.1016/j.tox.2017.07.009. Epub 2017 Jul 27.

2016

DeBrosse C, Nanga RP, Wilson N, D'Aquilla K, Elliott M, Hariharan H, Yan F, Wade K, Nguyen S, Worsley D, Parris-Skeete C, McCormick E, Xiao R, Cunningham ZZ, Fishbein L, Nathanson KL, Lynch DR, Stallings VA, Yudkoff M, Falk MJ, Reddy R, McCormack SE. Muscle oxidative phosphorylation quantitation using creatine chemical exchange saturation transfer (CrCEST) MRI in mitochondrial disorders. JCI Insight. 2016 Nov 3;1(18):e88207.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat. 2016 Jun;37(6):540-8.

2014

Haas RH, Zolkipli Z. Mitochondrial disorders affecting the nervous system. Semin Neurol. 2014 Jul;34(3):321-40.

Declèves AE, Zolkipli Z, Satriano J, Wang L, Nakayama T, Rogac M, Le TP, Nortier JL, Farquhar MG, Naviaux RK, Sharma K. Regulation of lipid accumulation by AMP-activated kinase in high fat diet-induced kidney injury.  Kidney Int. 2014 Mar;85(3):611-23.

2013

Naviaux, R. K., Zolkipli, Z., Wang, L., Nakayama, T., Naviaux, J. C., Le, T. P., Schuchbauer, M. A., Rogac, M., Tang, Q., Dugan, L. L., Powell, S. B.: Antipurinergic therapy corrects the autism-like features in the poly(IC) mouse model. PLoS One 8(3): e57380, March 2013.

2012

Zolkipli, Z., Mai, L., Lamhonwah, A. M., Tein, I.: The mdx mouse as a model for carnitine deficiency in the pathogenesis of Duchenne muscular dystrophy. Muscle Nerve 46(5): 767-72, November 2012.

2011

Zolkipli, Z., Pedersen, C. B., Lamhonwah, A. M., Gregersen, N., Tein, I.: Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. PLoS One 6(4): e17534, April 2011.

2010

Pedersen, C. B., Zolkipli, Z., Vang, S., Palmfeldt, J., Kjeldsen, M., Stenbroen, V., Schmidt, S. P., Wanders, R. J., Ruiter, J. P., Wibrand, F., Tein, I., Gregersen, N.: Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. J Inherit Metab Dis 33(3): 211-22, June 2010.

2005

Head, R. A., Brown, R. M., Zolkipli, Z., Shahdadpuri, R., King, M. D., Clayton, P. T., Brown, G. K.: Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. Ann Neurol 58(2): 234-41, August 2005.

2003

Mercuri, E., Cini, C., Pichiecchio, A., Allsop, J., Counsell, S., Zolkipli, Z., Messina, S., Kinali, M., Brown, S. C., Jimenez, C., Brockington, M., Yuva, Y., Sewry, C. A., Muntoni, F.: Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype. Neuromuscul Disord 13(7-8): 554-8, September 2003.

Books

Chapters
2012

Zolkipli Z. Chapter on 'Short-chain acyl CoA dehydrogenase (SCAD) deficiency' Atlas of Inherited Metabolic Diseases 3rd Edition. Hodder Arnold, Page: 302-308, 2012.

Posters and Presentations

2019

Zarazuela Zolkipli-Cunningham, Elizabeth M. McCormick, Elle Clendenin, Colleen C. Muraresku, Elyse Ryan, Kathleen Valverde, Patrick F. Chinnery, Marni J. Falk, Richard H. Haas: The significant impact of Mitochondrial Myopathy symptoms. UMDF Annual Meeting, Alexandria, VA, June 2019. Notes: Platform/Poster June 2019.

Zarazuela Zolkipli-Cunningham, Jean Flickinger, Allan Glanzman, Colleen C. Muraresku, Elizabeth McCormick, Simone Udeh, Brianna Soreth, Laura Dennis, George Ibrahim-Sankoh, Rui Xiao, Marni J. Falk: Quantitative Assessment of Mitochondrial Myopathy. UMDF Annual Meeting, Alexandria, VA, June 2019. Notes: Platform/Poster June 2019.

Zarazuela Zolkipli-Cunningham, Jean Flickinger, Allan Glanzman, Colleen C. Muraresku, Elizabeth McCormick, Simone Udeh, Brianna Soreth, Laura Dennis, George Ibrahim-Sankoh, Rui Xiao, Marni J. Falk: Quantitative Assessment of Mitochondrial Myopathy. FASEB Mitochondrial Biogenesis and Dynamics Meeting, Palm Springs, CA. May 2019 Notes: Poster May 2019.

Zarazuela Zolkipli-Cunningham, Didi She, Katherine Mitchell, Douglas C. Wallace, Mark Allen, Marni J. Falk: Development of a minimally invasive muscle O2 nanosensor for Mitochondrial Myopathy. FASEB Mitochondrial Biogenesis and Dynamics Meeting, Palm Springs, CA. May 2019 Notes: Poster May 2019.

Zarazuela Zolkipli-Cunningham, Didi She, Katherine Mitchell, Douglas C. Wallace,Mark Allen, Marni J. Falk: Development of a minimally invasive muscle O2 nanosensor for Mitochondrial Myopathy American Academy of Neurology Meeting, Philadelphia, PA May 2019. Notes: Platform May 2019.

JW Day, CS Wolford, CE Macpherson, W Martens, M McDermott, BT Darras, D De Vivo, Z Zolkipli- Cunningham, R Finkel, M Zeineh, JB Sampson, K Hagerman, S Dunaway Young, T Duong. : Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. American Academy of Neurology Meeting, Philadelphia, PA May 2019. Notes: Platform May 2019.

2018

Zarazuela Zolkipli-Cunningham, Didi She, Katherine Mitchell, Douglas C. Wallace, Mark Allen, Marni J. Falk: Development of a minimally invasive muscle O2 nanosensor for Mitochondrial Myopathy Cold Spring Harbor Laboratory Mitochondrial Meeting, Cold Spring Harbor, ME October 2018 Notes: Poster October 2018.

Zolkipli-Cunningham, Z., She, D., Mitchell, K., Wallace, D., Allen, M, Falk, MJ: Development of a minimally invasive muscle O2 Nanosensor in Mitochondrial Myopathy. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster. June 2018.

Zolkipli-Cunningham, Z., Glanzman, A., Flickinger, J., Barr, E., Muraresku, C., Xiao, R., Falk, MJ/: Modified Analyses of the Six Minute Walk Test in Mitochondrial Myopathy United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster June 2018.

Salazar, R., Montes, J., Dunaway Young, S., Coratti, G., Mazzone, ES., Pasternak, A., Quigley, J., Mirek, E., Glanzman, AM., Gee, R., Young, T., Pandya, S., Chiriboga, C., LaMarca, NM., Darras, B., Kichula, E., Zolkipli Cunningham, Z., Day, JW., Mercuri, E.,DeVivo, D.: Prospective Quantitative Study of Passive Lower Extremity Range of Motion In Spinal Muscular Atrophy Type 1. CureSMA Foundation Annual Meeting, Dallas, TX June 2018. Notes: Poster. Cure SMA Foundation Annual Meeting, Dallas, TX June 2018. Notes: Platform. June 2018.

A Pasternak, M P. McDermott, W B. Martens, J Montes, M Fragal-Pinkham, A Glanzman, S Dunaway-Young, J Quigley, E Mirek, R Salazar, M M. LaMarca, T Harrington, G Ordonez, S Georghiou, N M. Videon, C Chiriboga, R Finkel, E Kichula, Z Zolkipli-Cunningham, D V Devivo, B T. Darras: Caregiver Reported Motor Performance is Associated with Motor Capacity in Children And Young Adults with Spinal Muscular Atrophy. Cure SMA Foundation Annual Meeting, Dallas, TX June 2018. Notes: Platform June 2018.

Madsen, K., Haller, R., Vissing, J., Meyer, C., Cohen, B., Falk, MJ., Goldsberry, A., Karaa, A., Koenig, M., O'Grady, M., Scaglia, F., Shieh, P., Zolkipli-Cunningham, Z., Vockley, G.: Safety, Efficacy and Pharmacodynamics on Omaveloxolone in Mitochondrial Myopathy patients, Part 1 Results United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Platform. June 2018.

R D. Ganetzky, A Goldstein, Z Zolkipli Cunningham, E McCormick, C Muraresku, Zarazuela Zolkipli Cunningham, Marni Falk: The Future is Now: Leveraging Electronic Health Records to Standardize Mitochondrial Care. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster June 2018

Goldstein, A., Zolkipli-Cunningham, Z., Ganetzky, R., Muraresku, C., McCormick, E., Falk, MJ.: Opportunities and Challenges to Measuring Fatigue in Primary Mitochondrial Disease. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster June 2018.

Goldstein, A., Zolkipli-Cunningham, Z., Ganetzky, R., Muraresku, C., McCormick, E., Falk, MJ.: Expanding the phenotype of m.10191C>T pathogenic variant in mtND3. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster June 2018.

Glanzman, A., Flickinger, J., Burrill, N., Barr, E., Muraresku, C., Xiao, R., Haas, R.,Zolkipli-Cunningham, Z.: Development of a Mitochondrial Myopathy Rating Scale. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Platform June 2018.

R D. Ganetzky, A Goldstein, Z Zolkipli Cunningham, E McCormick, C Muraresku, M J Falk: GDF15 in clinical practice. United Mitochondrial Disease Foundation Annual Meeting, Nashville, TN June 2018. Notes: Poster June 2018.

Schoenaker R, DiMauro S, Cohen BH, Karaa A, Vladutiu G, Haas R, Van Hove, Scaglia F, Parikh S, Bedoyan J, DeBrosse S, Gavrilova R, Saneto R, Enns G, Stacpoole P, Ganesh J, Larson, A, Zolkipli-Cunningham Z, Falk M, Goldstein AC, Tarnopolsky M, Camp K, Krotoski D, Engelstad K, Rosales X, Kriger JF, Grier J, Buchsbaum R, Thompson JLP, Hirano M: Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC). American Academy of Neurology 70th Annual Meeting, Los Angeles, CA April 2018 Notes: Poster April 2018.

Goldstein,A., Zolkipli-Cunningham, Z., Ganetzky,R., Muraresku, C., McCormick, E., Falk, MJ.: Opportunities and Challenges to Measuring Fatigue in Primary Mitochondrial Disease. Mitochondrial Medicine Meeting, Cambridge, UK April 2018. Notes: Poster April 2018.

Goldstein, A., Zolkipli-Cunningham, Z., Ganetzky, R., Muraresku, C., McCormick, E., Falk, MJ.: Expanding the phenotype of m.10191C>T pathogenic variant in mtND3. Mitochondrial Medicine Meeting, Cambridge, UK April 2018. Notes: Poster. April 2018.

E Kichula, TR Duong, A Pasternak, BT Darras, R Finkel, DC DeVivo, Z Zolkipli-Cunningham, AM Glanzman, JW Day: Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) Feasibility for Individuals with Severe Spinal Muscular Atrophy II. American Academy of Neurology 70th Annual Meeting, Los Angeles, CA April 2018 Notes: Platform April 2018.

CS Wolford, CE Macpherson, W Martens, M McDermott, B Darras, D DeVivo, ZZ Cunningham, R Finkel, JB Sampson, JW Day, TR Duong: Nusinersen Efficacy in Adults with Spinal Muscular Atrophy. American Academy of Neurology 70th Annual Meeting, Los Angeles, CA April 2018 Notes: Platform April 2018.

Zolkipli-Cunningham, Z., She, D., Wallace, D., Allen, M., Falk, MJ.: Development of a minimally invasive muscle O2 Nanosensor in mitochondrial myopathy. Society of Inherited Metabolic Disorders Annual Meeting, San Diego, CA March 2018 Notes: Platform. Molecular Genetics and Metabolism 2018, 123(2) March 2018.

2017

Delaney Taylor, Amit A. Shah, Zarazuela Zolkipli-Cunningham, Henry C. Lin: Late-onset MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome. NASPGHAN Annual Meeting, Las Vegas, NV November 2017 Notes: NASPGHAN Conference Proceedings 2017.

Z Zolkipli, N Burrill, C Muraresku, E McCormick, M McBride, B Tromberg, D C Wallace, M J Falk: Accurate Measurement of Exercise Intolerance in Mitochondrial Myopathy National Organization for Rare Disorders (NORD) Annual Meeting, Washington DC October 2017 Notes: NORD Conference Proceedings Abstract Book 2017, Poster.

Zarazuela Zolkipli Cunningham, Colleen Muraresku, Marni J. Falk: Distinct Central Nervous System lesions in Primary Mitochondrial Disorders. United Mitochondrial Disease Foundation Annual Meeting, DC June 2017 Notes: UMDF Conference Proceedings Abstract Book 2017, Poster.

Allan M. Glanzman, Elena S. Mazzone, Sally Dunaway Young, Richard Gee, Kristy Rose, Anna Mayhew, Leslie Nelson, Chris Yun, Katie Alexander, Basal Darras, Zarazuela Zolkipli, Gihan Tennekoon, John W. Day, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Ron Baldwin, Kathie Bishop, Jacqueline Montes: Reliability of functional outcome measures in spinal muscular atrophy: multi-centered, global, phase 3 clinical trials. Cure SMA Annual Meeting, Orlando, Florida June 2017 Notes: CureSMA Conference Proceedings 2017.

Allan M. Glanzman, Elena S. Mazzone, Sally Dunaway Young, Richard Gee, Kristy Rose, Anna Mayhew, Leslie Nelson, Chris Yun, Katie Alexander, Basal Darras, Zarazuela Zolkipli, Gihan Tennekoon, John W. Day, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Ron Baldwin, Kathie Bishop, Jacqueline Montes: Reliability of functional outcome measures in spinal muscular atrophy: multi-centered, global, phase 3 clinical trials American Academy of Neurology Annual Meeting, Boston, MA April 2017 Notes: AAN Conference Proceedings 2017.

Invited Lectures
2019

Zolkipli Z. “Mitochondrial Dynamics and Signaling Disease Genes and Myopathy”. Gordon Research Institute Mitochondria in Health and Disease Conference, Ventura Beach, CA

2018

Zolkipli Z. “Novel Approach to Mitochondrial Myopathy Quantitation”. MitoCare Lecture Series, Jefferson University, Philadelphia, PA. Dec. 2018.

Zolkipli Z. “Mitochondrial Myopathy Symptoms and Potential for Rehabilitation”. Good Shepherd Inpatient Pediatric Rehabilitation Center, Allentown, PA. Nov. 2018.

Zolkipli Z. “Exercise in Mitochondrial Myopathy”. Teenage Family Session, United Mitochondrial Disease Foundation Family Meeting,  Nashville, TN. June 2018.

2017

Zolkipli Z. “The Comprehensive Evaluation of Mitochondrial Myopathy”. Breakfast Session Organizer, Child Neurology Society Meeting, Kansas City, MO. Oct. 2017.

Zolkipli Z. “Diagnosis and Management of Chronic Progressive External Ophthalmoplegia (CPEO)”. UMDF Mitochondrial Medicine 2017 International Symposium, Family Session, Washington, DC. July 2017.

Zolkipli Z. “Mitochondrial Myopathy”. Pediatric Neurology Grand Rounds, Yale Medical Center, Yale University, New Haven, CT. May 2017.

Zolkipli Z. “Accelerated path to FDA approval in Mitochondrial Myopathy”. Pediatric Neurology Grand Rounds, University of Florida Medical Center, Gainesville, Fl. Feb. 2017.

2016

Zolkipli Z. “Diagnosis of Mitochondrial Disease”. United Mitochondrial Disease Foundation Family Meeting, Children's Hospital of Philadelphia, PA (regional audience). Oct. 2016.

Zolkipli Z. “Development of a Mitochondrial Myopathy Rating Scale”.  Clinical Grant Award, UMDF Mitochondrial Medicine 2016 International Symposium, Seattle, WA. June 2016.

Awards and Honors

2018, Society for Inherited Metabolic Disorders Travel Award

2016, Rare Diseases Clinical Research Network Travel Support, Rare Disease Training Program

2016, Society for Inherited Metabolic Disorders Travel Award

2015, Translational Research in Mitochondria, Aging, and Disease Symposium conference sponsorship, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia

2013, UMDF Burroughs Wellcome Travel Award, USA

2012, UMDF Burroughs Wellcome Travel Award, USA

2011, United Mitochondrial Disease Foundation (UMDF) Burroughs Wellcome Travel Award, USA

2011, Gerber Foundation Novice Researcher Award, USA

2009, SSIEM, Travel Award for presentation at Annual meeting, UK

2009, Research Institute Travel Award, Hospital for Sick Children, Toronto

2009, European Paediatric Neurology Society (EPNS) Travel Bursary

​2009 SSIEM, 3 year Membership Scholarship Award, UK

2007, Winston Churchill Travel Fellowship, London, UK2008 Research Institute Travel Award, Hospital for Sick Children, Toronto

2003, Sir Henry John Biggleswade Prize for Best Presentation. Pediatric Regional Meeting, Cambridgeshire, UK

1991-1996, Full Scholarship, National Oil Company of Malaysia for Medical School in the UK

Editorial and Academic Positions

Ad-hoc reviewer

2019-present, Mitochondrion
2019-present, Journal of Human and Clinical Genetics
2019-present, Journal of Inherited Metabolic Disease
2018-present, Mitochondrial and Metabolic Medicine
2018-present, Muscle and Nerve
2018-present, Journal of Child Neurology

Leadership and Memberships

Memberships in Professional Organizations
International

2013-present, International Child Neurology Association

National

2018-present, American Academy of Neurology
2017-present, American Medical Association
2016-present, Society of Inherited Metabolic Disease
2016-present, Mitochondrial Medicine Society
2016-present, Child Neurology Society
2015-present, American Society of Human Genetics
2010-present, United Mitochondrial Disease Foundation
2009-present, Society for Study of Inborn Errors of Metabolism
2008-present, Pediatric Neurotransmitter Disease Foundation