Zarazuela Zolkipli-Cunningham, MBChB, MRCP
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
Penn Medical Faculty Senate Steering Committee , University of Pennsylvania
Department: Pediatrics
Contact information
12th Floor, The Hub Building,
Children's Hospital of Philadelphia
3501 Civic Center Boulevard
Philadelphia, PA 19104
Children's Hospital of Philadelphia
3501 Civic Center Boulevard
Philadelphia, PA 19104
Office: 2674264961
Publications
Links
Search PubMed for articles
ClinGen Leigh syndrome Gene Curation Study
CHOP Percutaneous Needle Muscle Biopsy
CHOP Press release on Nutritional Deficiencies in Primary Mitochondrial Disease publication
Scopus
Mitochondrial Myopathy Composite Outcome Measure Tool (MM-COAST)
Announcement of the 2023 United Mitochondrial Disease Foundation (UMDF) Clinical Trial Pavillion, Charlotte, North Carolina
North American Mitochondrial Disease Consortium
CHOP Annual Mitochondrial CME Education Talks
UMDF Ask the MitoDoc session, March 2024
ClinGen Mitochondrial Disease Gene Curation Expert Panel Co-Lead
Penn Institute for Translational Medicine and Therapeutics (ITMAT)
North American Mitochondrial Disease Consortium (NAMDC) Early Stage Investigator Blog
CHOP Press release on expert review of nutritional interventions in Mitochondrial Disease
RDCRN Early Stage Investigator Spotlight
CHOP Press release of MM-COAST manuscript publication
Department of Defense Congressionally Directed Medical Research Program Focused Program Award.
2025 United Mitochondrial Disease Foundation (UMDF) Annual Meeting Scientific Organizer.
ORCID
United Mitochondrial Disease Foundation Scientific and Medical Advisory Board
Rare Diseases Clinical Research Network (RDCRN) Impact Features
CHOP Press release of published review paper on Mitochondrial Supplements
Google Scholar
Search PubMed for articles
ClinGen Leigh syndrome Gene Curation Study
CHOP Percutaneous Needle Muscle Biopsy
CHOP Press release on Nutritional Deficiencies in Primary Mitochondrial Disease publication
Scopus
Mitochondrial Myopathy Composite Outcome Measure Tool (MM-COAST)
Announcement of the 2023 United Mitochondrial Disease Foundation (UMDF) Clinical Trial Pavillion, Charlotte, North Carolina
North American Mitochondrial Disease Consortium
CHOP Annual Mitochondrial CME Education Talks
UMDF Ask the MitoDoc session, March 2024
ClinGen Mitochondrial Disease Gene Curation Expert Panel Co-Lead
Penn Institute for Translational Medicine and Therapeutics (ITMAT)
North American Mitochondrial Disease Consortium (NAMDC) Early Stage Investigator Blog
CHOP Press release on expert review of nutritional interventions in Mitochondrial Disease
RDCRN Early Stage Investigator Spotlight
CHOP Press release of MM-COAST manuscript publication
Department of Defense Congressionally Directed Medical Research Program Focused Program Award.
2025 United Mitochondrial Disease Foundation (UMDF) Annual Meeting Scientific Organizer.
ORCID
United Mitochondrial Disease Foundation Scientific and Medical Advisory Board
Rare Diseases Clinical Research Network (RDCRN) Impact Features
CHOP Press release of published review paper on Mitochondrial Supplements
Google Scholar
Education:
MBChB
Edinburgh University Medical School, Scotland, UK, 1996.
MRCPCH
Royal College of Physicians, Edinburgh, Scotland, 1999.
Permanent linkMBChB
Edinburgh University Medical School, Scotland, UK, 1996.
MRCPCH
Royal College of Physicians, Edinburgh, Scotland, 1999.
Description of Clinical Expertise
Mitochondrial Myopathy diagnosis and managementPercutaneous Muscle Needle Biopsy
Mitochondrial Disease
Mitochondrial Dysfunction
Neuromuscular
Description of Research Expertise
Mitochondrial Myopathy outcome measuresMitochondrial Myopathy exercise testing
Mitochondrial Myopathy clinical trials
Neuromuscular
Myopathy
Mitochondria
Exercise
Spinal Muscular Atrophy
Nanosensor
Muscle Oxygen
Leigh syndrome
Longitudinal Studies
Selected Publications
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 December 2025 Notes: DOI 10.1088/1361-6439/ae2874 (Accepted).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.
McCormick EM, Peterson JT, Santos JDD, Flickinger J, Xiao R, Haas R, Zolkipli-Cunningham Z*.: The profound implications of Mitochondrial Myopathy on activities of daily living: An observational qualitative study of standardized structured and semi-structured patient interviews. Therapeutic Advances in Chronic Disease July 2025 Notes: https://doi.org/10.1177/20406223251344763. Supported by 2024-2029 NIH/NIAMS R01.
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.
Wang J*, Peterson J, Santos SD, Chan ADJ, Diaz-Miranda MA, Rahaman I, Flickinger J, Goldstein A, Bogush E, McCormick EM, Muraresku CC, Anderson VE, Dulik M, Wallace DC, Xiao R, Falk MJ, Viaene AN, Zolkipli-Cunningham Z*: Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease. Frontiers in Pharmacology(6), April 2025 Notes: https://doi.org/10.3389/fphar.2025.1507493. Supported by 2024-2029 NIH/NIAMS R01.
Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E: Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module. Neuromuscular Disorders 44(104449), November 2024.
George-Sankoh I, MacMullen LE, Chinwalla AT, Taylor D, Ganetzky R, Stanley K, McCormick EM, Zolkipli-Cunningham Z, Falk, MJ: MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data. Journal of the American Medical Informatics Association 7(4), November 2024.
Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D’Amico A, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Osorio AN, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E : Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale – Expanded. European Journal of Neurology September 2024 Notes: Accepted September 2024.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DA, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler FJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal P, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfund R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel A, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RG, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC: G-proteins can promote T cell responses through a non-canonical cAMP-independent pathway. Science 20(385), September 2024 Notes: doi: 10.1126/science.add8947.
Coratti G, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Day J, Baranello G, Pera MC, Muntoni F, Finkel R, Mercuri E.: Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscul Disord. 41: 42-50, Aug 2024 Notes: doi: 10.1016/j.nmd.2024.05.003. Epub 2024 May 9.