Zarazuela Zolkipli-cunningham | Faculty | About Us | Perelman School of Medicine | Perelman School of Medicine at the University of Pennsylvania

About Us
Our Faculty
Zarazuela Zolkipli-cunningham

Zarazuela Zolkipli-Cunningham, MBChB, MRCPCH

Assistant Professor of Pediatrics (Human Genetics) at the Children's Hospital of Philadelphia

Attending Physician, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia

Faculty, Center of Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia

Clinical Research Director, Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia

Department: Pediatrics

Contact information

Children's Hospital of Philadelphia
12th Floor, The Hub Building
3501 Civic Center Boulevard
Philadelphia, PA 19104

Office: 2674264961

Publications

Search PubMed for articles

Education
MBChB
Edinburgh University Medical School, Scotland, UK, 1996.
MRCPCH
Royal College of Physicians, Scotland, UK, 1999.

Permanent link

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Description of Clinical Expertise

Mitochondrial Myopathy diagnosis and management
Percutaneous Muscle Needle Biopsy
Mitochondrial Disease
Mitochondrial Dysfunction
Neuromuscular

Description of Research Expertise

Mitochondrial Myopathy outcome measures
Mitochondrial Myopathy exercise testing
Mitochondrial Myopathy clinical trials
Neuromuscular
Myopathy
Mitochondria
Exercise
Spinal Muscular Atrophy
Nanosensor
Muscle Oxygen
Leigh syndrome
Longitudinal Studies

Selected Publications

MacMullen L, Christodoulou J, Cohen B, Demczko M, Goldstein A, Haas R, Koenig MK, Rice A, Rossman, I, Ruiz, C, Russo, SN, Thorburn D, Uebergang Eloise, Yang J, Zolkipli-Cunningham Z, Falk, MJ: Interim Analysis of an International Multi-Site Prospective Natural History Study Evaluating the Clinical Presentation and Progression of Leigh Syndrome Spectrum Disorders Therapeutic Advances in Rare Disease 26(7), Aug 2026 Notes: doi: 10.1177/26330040261476231.

Sultan LR*, Morgan T, McGinn DE, Darge K, Gendler L, Nguyen J, Brennan E, Brothers JA, Xiao R, Falk MJ, Nadkarni V, Ischiropoulos H, Adams JA, Zolkipli-Cunningham Z*: Evaluation of muscle microvascular perfusion in primary mitochondrial disease by contrast-enhanced ultrasound: feasibility study. Therapeutic Advances in Rare Disease Page: Accepted, Aug 2026 Notes: Supported by a Department of Defense Focused Development Award (W81XWH2210590).

Martin I, Flickinger J, Rahaman I, Sarna T, Ballance E, Ginelli N, Peterson J, Uryash A, Adams J, Xiao R, Zolkipli-Cunningham Z*: Quantitative Assessment of Efficacy and Evaluation of Feasibility of Exercise Training Protocols in Adult and Pediatric Primary Mitochondrial Disease. BMC Medicine Page: doi: 10.118, June 2026 Notes: epub ahead of print. Supported by a 2024-2029 NIH/NIAMS R01.

Shen L, Lott MT, McCormick EM, Muraresku CC, Keller KN, Wallace DC, Zolkipli- Cunningham Z, Rahman S, Falk MJ, Gai X: MSeqDR PMD-VR: An Expert-Curated Virtual Registry of 11,000 Mitochondrial Disease Cases Established through Literature Mining and Generative AI Augmentation. Genes 17(7): 757, June 2026.

Krosschell KJ, Young SD, Maczek E, Brown L, Hoffman K, Galli CC, Lofra RM, Coratti G, Burn MM, Townsend EL, Kelley C, Weigel C, Civitello M, Kanner CH, McIntyre M, Nelson L, Rao V, Castro D, Farrar M, Kuntz NL, Apkon SD, Zolkipli-Cunningham Z, NBS-SMArt Working Group: Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA. J Neuromuscul Dis 5(15): 22143602261433638, Apr 2026 Notes: doi: 10.1177/22143602261433638.

Coratti G, Bovis F, Franchino V, Montes J, Sansone V, Dunaway Young S, Cutrì C, Pasternak A, Pera MC, Pane M, Glanzman AM, Pegoraro E, Duong T, Sogus E, Sframeli M, Messina S, Cavalcante E, Scoto MC, D'Amico A, Rodriguez-Torres R, Mongini T, Maggi L, Coccia M, Filosto M, Zuccarino R, Masson R, Ricci G, Bruno C, Ruggiero L, Vacchiano V, D'Errico E, Verriello L, Nigro V, Scarpini G, Garibaldi M, Turri M, Ticci C, Berardinelli A, Agosto C, Ricci F, Zolkipli-Cunningham Z, Darras BT, Day J, Hirano M, Muntoni F, Finkel RS, Mercuri E: Loss of ambulation in SMA III at the time of disease modifying treatments: an international study. J Neurol Neurosurg Psychiatry 97(5): 449-455, April 2026.

Chen CX, Venkatesh V, Nakamaru-Ogiso E, Zolkipli-Cunningham Z, Falk MJ, Anderson VE, Allen MG : A Miniaturized Enzymatic Lactate Sensor for Continuous Monitoring in Oxygen-Depleted Tissue Microenvironments. IEEE Trans Biomed Eng Page: doi: 10.1109, Mar 2026 Notes: ecollection. Supported by a Department of Defense Focused Development Award (W81XWH2210590).

Venkatesh V, Burg L, Anderson V, Zolkipli-Cunningham Z, Falk M, Allen M: Microfabricated Electrochemical Oxygen Sensors with Hydrogel Electrolytes for In Vivo Applications. Journal of Micromechanics and Microengineering 35(1): 125013, December 2025 Notes: doi 10.1088/1361-6439/ae2874. Supported by a Department of Defense Focused Development Award (W81XWH2210590).

Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzon I, Glanzman AM, Morando S, Montes J, Cavallina I, Young SD, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Carmela Pera MC, Messina S, D’Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel R, Eugenio Mercuri the ISMAC/international SMA consortium: Longitudinal assessment of 4-year HFMSE changes in SMA II and III patients treated with nusinersen. European Journal of Neurology 32(7): e70268, Jul 2025 Notes: doi: 10.1111/ene.70268.

Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Young SD, Tina Duong T, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, Messina ADS, Bruno C, Mercuri E, De Vivo DC, Darras BT: Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in untreated and nusinersen-treated patient cohorts. Neurology 105(2): e213839, July 2025 Notes: doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27.