Zarazuela Zolkipli-Cunningham, MBBCh
About Zarazuela Zolkipli-Cunningham, MBBCh
Titles
Attending Physician
Certifications
Child Neurology – American Board of Psychiatry and Neurology
Pediatrics – American Board of Pediatrics
Royal College of Pediatrics and Child Health (MRCPCH)
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
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
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
Education & training
Medical Degree
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
Publications
Publications
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.