Zarazuela Zolkipli-Cunningham, MBChB, MRCP
Areas of expertise: Mitochondrial disease
Locations: Main Building, Buerger Center for Advanced Pediatric Care
About Zarazuela Zolkipli-Cunningham, MBChB, MRCP
Zarazuela Zolkipli-Cunningham, MBChB, MRCP, is Director of Clinical Research in the Mitochondrial Medicine Frontier Program in the Division of Human Genetics at The Children’s Hospital of Philadelphia (CHOP) and Assistant Professor, at the University of Pennsylvania Perelman School of Medicine. Dr. Zolkipli-Cunningham completed training in Child Neurology at Great Ormond Street Hospital, London, UK, and the Dubowitz Neuromuscular Center, London, UK. She then completed a Neurometabolic Research Fellowship at the SickKids Hospital in Toronto Canada mentored by Dr. Ingrid Tein; and a Mitochondrial Disease Fellowship at the Metabolic and Mitochondrial Disease Center, University California, San Diego mentored by Dr. Richard Haas and Dr. Robert Naviaux. Dr. Zolkipli-Cunningham was the first NIH - North American Mitochondrial Disease Consortium (NAMDC) Fellow to complete Mitochondrial Disease and Clinical trials training.
Dr. Zolkipli-Cunningham has established a Mitochondrial Myopathy Clinical Research program to design and validate new quantitative methods of Mitochondrial Myopathy for clinical trials, precision trials, and natural history studies. She is PI of NIH-R01, Industry, and Foundation grants and co-I of a Department of Defense Focused Development Award. As Clinical Research Director of the Mitochondrial Medicine Frontier Program, she is actively engaged in bridging academia-industry collaborations to pursue precision and clinical trials. She is also CHOP-site PI of the Pediatric Neuromuscular Research Network, co-leads a ClinGen NICHD U24 Leigh syndrome Mitochondrial Disease consortium gene-disease curation effort, member of the North American Mitochondrial Disease Consortium (NAMDC) committee, Rare Disease Clinical Research Network (RDCRN) Career Enhancement Committee, Scientific and Medical Advisory Board of the United Mitochondrial Disease Foundation (UMDF), co-leads the UMDF Bench to Bedside Education Seminars and is Scientific Organizer of the annual UMDF Clinical Research Pavilion. The focus of her work is to improve clinical care, validate new diagnostic approaches, and advance new therapies in Mitochondrial Disease.
Titles
Attending Physician
Clinical Research Director, Mitochondrial Medicine Frontier Program
Assistant Professor of Pediatrics (Human Genetics), Perelman School of Medicine at the University of Pennsylvania
Certifications
Pediatrics – Royal College of Pediatrics and Child Health (MRCPCH)
Child Neurology – Royal College of Pediatrics and Child Health (MRCPCH)
Mitochondrial Disease training – NIH/North American Mitochondrial Disease Consortium (NAMDC)
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
Leadership
2010-present, United Mitochondrial Disease Foundation
- 2023-present, Scientific Organizer, Clinical Trial Pavilion
- 2021-present, Scientific Medical Advisory Board
- 2022 -present, Educational Bench to Bedside Seminar Series Lead
- 2019- present, Scientific Abstract Review Committee, Clinical trial committee
2018-present, North American Mitochondrial Disease Consortium
- 2024-present, Sustainability Committee member
- 2021-2024, Education Training Program Committee
2018-present, ClinGen
- 2018-present, Leigh Syndrome and Mitochondrial Disease Gene Curation Expert Panel Co-Lead
2021-present, Rare Disease Clinical Research Network (RDCRN) Career Enhancement Committee
2022-2023, NIH/NINDS
- 2022- 2023, Mitochondrial Disease v2.0 Common Data Elements (CDE) Working Group
Memberships in Professional Organizations
2013-present, International Child Neurology Association
2015-present, American Society of Human Genetics
2016-present, Child Neurology Society
2016-present, Society of Inherited Metabolic Disease
2016-present, Mitochondrial Medicine Society
2017-present, American Medical Association
2018-present, American Academy of Neurology
2019-present, New York Academy of Sciences
2019-present, Pennsylvania Neurological Society
2019-present, Pennsylvania Muscle Institute
Editorial and Academic Positions
Editorial Positions
2024-present, Ad-hoc reviewer, Expert Opinion on Drug Safety
2024-present, Ad-hoc reviewer, Molecular Genetics and Metabolism
2023-present, Ad-hoc reviewer, New England Journal of Medicine
2023-present, Ad-hoc Reviewer, Neurotherapeutics
2019-present, Ad-hoc reviewer, Journal of Inherited Metabolic Disease
2019-present, Ad-hoc reviewer, Journal of Human and Clinical Genetics
2019-present, Ad-hoc reviewer, Journal of Cachexia, Sarcopenia and Muscle
2019-present, Ad-hoc reviewer, Mitochondrion
2018-present, Ad-hoc reviewer, Mitochondrial and Metabolic Medicine
2018-present, Ad-hoc reviewer, Journal of Child Neurology
2018-present, Ad-hoc reviewer, Muscle and Nerve
Education & training
Medical Degree
MBChB - Edinburgh University Medical School, Scotland, UK
Fellowship
Neurometabolic Research Fellowship - Hospital for Sick Children, Toronto, ON
Mitochondrial Clinical Research 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 Clinical Fellowship - The Children's Hospital of Philadelphia, Philadelphia, PA
Publications
PubMed
Lectures by Invitation
2025
Zolkipli-Cunningham Z. "Case Study of Primary Mitochondrial Myopathy", United Mitochondrial Disease Foundation (UMDF) Annual Meeting Masterclass Teaching Course, June 21, 2025. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Real World Data and Clinical Trial Readiness in Mitochondrial Myopathy”. Platform Session on “The North American Mitochondrial Disease Consortium”, United Mitochondrial Disease Foundation (UMDF) Annual Meeting. St Louis, Missouri. June 18, 2025. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Development of O2 Nanosensor to measure muscle mitochondrial function”. CHOP Scientific Symposium, The Children’s Hospital of Philadelphia, Philadelphia. May 21, 2025. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Measuring change in Mitochondrial Myopathy - establishing rigorous methods to optimize clinical and precision trials”. Center for Epigenomic and Mitochondrial Medicine Faculty Symposium Day. The Children’s Hospital of Philadelphia, Philadelphia. May 1, 2025. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Updates on the UMDF Digital Wearables Study”. UMDF Bench to Bedside Seminar. March 10, 2025. Scope: National. Notes: Virtual meeting.
Zolkipli-Cunningham Z. “MM-COAST as a Clinical Trial Outcome Measure”. FDA pre-IND type C meeting. March 6, 2025. Scope: Regional. Notes: Virtual.
Zolkipli-Cunningham Z. “Spinal Muscular Atrophy Newborn Screen Study”. International Spinal Muscular Atrophy Consortium (iSMAC) Meeting. Stanford, CA. January 27, 2025. Scope: International. Notes: In-Person.
Zolkipli-Cunningham Z. “Chronic Progressive External Ophthalmoplegia (CPEO)”. United Mitochondrial Disease Foundation (UMDF), Ask the MitoDoc. January 15, 2025. Scope: National. Notes: Virtual meeting.
Zolkipli-Cunningham Z. “Validation of New Quantitative Tools to measure Mitochondrial Myopathy”.Rare Disorders Clinical Research Network (RDCRN) Monthly Investigator Steering Committee. January 12, 2025. Scope: National. Notes: Virtual meeting.
2024
Zolkipli-Cunningham Z. “Novel approaches to quantify Mitochondrial Myopathy symptoms as validated tools for future clinical and precision trials”. Neurometabolic Disorders Symposium with Special Focus on Mitochondrial Disease, Sick Kids Hospital. Toronto, CA. November 26, 2024. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Multi-Site MM-COAST longitudinal study”. Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Hospital, Rome, Italy. October 14, 2024. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Wearables in Mitochondrial Disease for Clinical Trials”. United Mitochondrial Disease Foundation (UMDF) Annual Meeting, Cleveland, Ohio. June 26-29, 2024. Scope: International. In-person
Zolkipli-Cunningham Z. “Enhancing Clinical Outcome Measures using Digital Wearables”. United Mitochondrial Disease Foundation Bench to Bedside Seminar Series. April 8, 2024. Scope: National. Notes: Virtual meeting.
Zolkipli-Cunningham Z. “Longitudinal Assessments of the MM-COAST”. North American Mitochondrial Disease Consortium (NAMDC) Monthly Call. March 28, 2024. Scope: National. Notes: Virtual meeting.
Zolkipli-Cunningham Z. “Results of patient assessments conducted at the Inaugural 2023 UMDF Clinical Research Pavilion”. UMDF Ask the MitoDoc Webcast, March 6, 2024. Scope: National. Notes: Virtual meeting.
Zolkipli-Cunningham Z. “Validation of New Tools to Quantify Mitochondrial Myopathy”. Rare Disorders Clinical Research Network (RDCRN) Career Enhancement Committee Meeting, February 26, 2024. Scope: National Notes: Virtual meeting.
Zolkipli-Cunningham Z. “Spinal Muscular Atrophy Newborn Screen Study”. Pediatric Neuromuscular Research Network (PNCR) Meeting. New York, NY, January 20-21, 2024. Scope: National. Notes: In-person.
2023
Zolkipli-Cunningham Z. “Validated Outcome Measures of Mitochondrial Disease”. Clinical 4th Mitochondrial Medicine CME Day. Philadelphia, PA, September 18, 2023. Scope: International. Notes: Virtual.
Zolkipli-Cunningham Z. “Are you out of breath”. United Mitochondrial Disease Foundation Annual Meeting Family Symposium. Charlotte, NC, July 1, 2023. Scope: National. Notes: In-Person.
Zolkipli-Cunningham Z. “Mitochondrial Myopathy: Change over time”. United Mitochondrial Disease Foundation Annual Meeting. Charlotte, NC, June 30, 2023. Scope: National. Notes: In-person.
2022
Zolkipli-Cunningham Z. “Experience in the follow up of patients in Philadelphia”. 258th ENMC International Workshop on Genetic Epidemiology and Clinical Trial Readiness in Encephalomyopathy of Leigh Syndrome. Amsterdam, Netherlands, March 22, 2022. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
Zolkipli-Cunningham Z. “MM-COAST Assessment of Mitochondrial Myopathy”. United Mitochondrial Disease Foundation Mitochondrial Symposium, Phoenix, AZ, 8-11 June 2022. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Longitudinal Analysis of Myopathy Outcome Measures and Growth”. Mitochondrial Medicine Therapeutic Development Foundation. Cambridge, UK, November 22, 2022. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Spinal Muscular Atrophy Newborn Screen Longitudinal Study”. Stanford Spinal Muscular Atrophy CME Day, Stanford University. Stanford, CA, December 2-3, 2022. Scope: International. Notes: In-person.
2021
Zolkipli-Cunningham Z. “Mitochondrial Myopathy Outcome Measures in the Era of Clinical Trials”. Rare Disorders Clinical Research Network (RDCRN) Career Enhancement Committee Meeting. June 21, 2021. Scope: National. Notes: Virtual meeting during the COVID 19 pandemic.
Zolkipli-Cunningham Z. “Outcome Measures in Leigh Syndrome”, 258th European Neuromuscular Consortium Workshop, July 9, 2021. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
Zolkipli-Cunningham Z. “New myopathy outcome measures in the Mitochondrial disease clinical trials era”. Wellcome Trust Mitochondrial Medicine International Virtual Meeting. Cambridge, UK, December 1, 2021. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
2020
Zolkipli-Cunningham Z. “Phenotypic Spectrum of Mitochondrial Disease”. Children’s Hospital of Philadelphia Precision Mitochondrial Medicine CME Day, Philadelphia, PA, September 17, 2020. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
Zolkipli-Cunningham Z. “Cardiopulmonary consequences of Mitochondrial Disease”. Children’s Hospital of Philadelphia Precision Mitochondrial Medicine CME Day. Philadelphia, PA, September 17, 2020. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
Zolkipli-Cunningham Z. “Prospective Analysis of Macronutrient Intake and Standardized Daily Caloric Estimation using the MOTIVATOR for Primary Mitochondrial Disease Clinical Trials”. Lightning Talk, Wellcome Trust Mitochondrial Medicine International Virtual Meeting. Cambridge, UK, December 2, 2020. Scope: International. Notes: Virtual meeting during the COVID 19 pandemic.
2019
Zolkipli-Cunningham Z. “Mitochondrial Myopathy”. Gordon Research Institute Conference on Mitochondrial Dynamics and Signaling. Ventura Beach, CA, March 21, 2019. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Mitochondrial Myopathy – More than Muscle Weakness”. United Mitochondrial Disease Foundation Symposium Family Program. Alexandria, VA, June 29, 2019. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Mitochondrial Myopathy: Are you out of Breath”. United Mitochondrial Disease Foundation 2019 Symposium, Family Program. Alexandria, VA, June 26, 2019. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Defining the Natural History of Mitochondrial Myopathy”. United Mitochondrial Disease Foundation Clinical Grant Award, UMDF, Scientific Symposium. Alexandria, VA, June 29, 2019. Scope: International. Notes: In-person.
Zolkipli-Cunningham Z. “Evaluation of Exertional Dyspnea in Mitochondrial Myopathy”. 9th Regional Translational Research in Mitochondria, Aging and Disease Symposium, Family Program. Philadelphia, PA, 25-September 26, 2019. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Development of a Minimally Invasive Muscle O2 Nanosensor for Mitochondrial Myopathy”. Singh Center of Nanotechnology Annual User Meeting. Philadelphia, PA, October 7, 2019. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Development of a Minimally Invasive Muscle O2 Nanosensor for Mitochondrial Myopathy”. Sensors Summit Meeting. San Diego, CA, December 10-12, 2019. Scope: International. (Invited, but unable to attend due to overlapping speaker dates at a separate Mitochondrial meeting in Cambridge, UK)
Zolkipli-Cunningham Z. “Quantitative Assessment of Mitochondrial Myopathy”. Wellcome Trust Mitochondrial Meeting. Cambridge, UK, December 9-11, 2019. Scope: International. In-Person.
Zolkipli-Cunningham Z. “The Comprehensive Evaluation of Mitochondrial Myopathy”. Breakfast Session Organizer, Child Neurology Society Meeting. Kansas City MO, October 19, 2019. Scope: International. Notes: In-person.
2018
Zolkipli-Cunningham Z. “Exercise in Mitochondrial Myopathy”. United Mitochondrial Disease Foundation Symposium, Family Program. Nashville, TN, June 25-28, 2018. Scope: National. Notes: In-Person.
Zolkipli-Cunningham Z. “Mitochondrial Myopathy Symptoms and Potential for Rehabilitation”. Good Shepherd Inpatient Pediatric Rehabilitation Center Grand Rounds. Allentown, PA, November 15, 2018. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Novel Approach to Mitochondrial Myopathy Quantitation”. MitoCare Lecture Series, Jefferson University. Philadelphia, PA, December 10, 2018. Scope: Regional. Notes: In-person.
2017
Zolkipli-Cunningham Z. “Accelerated path to FDA approval in Mitochondrial Myopathy”. Pediatric Grand Rounds, University of Florida Medical Center. Gainesville, FL, February 13, 2017. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Mitochondrial Myopathy”. Pediatric Neurology Grand Rounds, Yale Medical Center, Yale University. New Haven, CT, May 16, 2017. Scope: Regional. Notes: In-person.
Zolkipli-Cunningham Z. “Diagnosis and Management of Chronic Progressive External Ophthalmoplegia (CPEO)”. United Mitochondrial Disease Foundation Symposium, Family Program. Washington, DC, June 27-30, 2017. Scope: National. Notes: In-Person.
2016
Zolkipli-Cunningham Z. “Development of a Mitochondrial Myopathy Rating Scale”. United Mitochondrial Disease Foundation Clinical Grant Award, UMDF 2016 Scientific Symposium. Seattle, WA, June 15-18, 2016. Scope: National. Notes: In-person.
Zolkipli-Cunningham Z. “Diagnosis of Mitochondrial Disease”. United Mitochondrial Disease Foundation Family Meeting, Children’s Hospital of Philadelphia. Philadelphia, PA (regional audience), October 9, 2016. Scope: National. Notes: In-person.
2015
Zolkipli-Cunningham Z. “Mitochondrial Disease Patients’ Motivations and Barriers to Participate in Clinical Trials”. United Mitochondrial Disease Foundation 2015 Scientific Symposium. Herndon, VA, June 17-20, 2015. Scope: National. Notes: In-person.