Dr. Zolkipli-Cunningham’s work is focused on improving clinical care, validating new diagnostic approaches, and advancing new therapies in mitochondrial disease. Her interdisciplinary research leverages the expertise of physical therapists, exercise physiologists, and MRI radiology scientists. Collaborators include Vinay Nadkarni, MD, Pediatric Intensive Care Unit; Marni Falk, MD, Executive Director, Mitochondrial Medicine Frontier Program; and Mark Allen, PhD, from the Singh Center for Nanotechnology at the University of Pennsylvania.

Dr. Zolkipli-Cunningham utilizes her clinical training in neurology and neuromuscular medicine in London, and mitochondrial disease in Canada and the United States, to focus on mitochondrial myopathy, a subset of mitochondrial disease.

Dr. Zolkipli-Cunningham and Jean Flickinger, PT, co-invented and validated the Mitochondrial Myopathy Composite Assessment Tool (MM-COAST), the first mitochondrial myopathy-specific objective outcome measure to be validated in patients with mitochondrial disease. A United Mitochondrial Disease Foundation (UMDF) Clinical Grant Award and Early-Stage Investigator Award supported this work.

The MM-COAST provides an infrastructure to validate and establish more tools to facilitate quantitation of MM for future clinical trials, including:

• Novel O2 nanosensors
• Passive periodic acceleration exercise
• Muscle CrCest imaging and other new imaging modalities.

Career Highlights

• Established the first prospective longitudinal study of mitochondrial myopathy (MM) objective measures in a large cohort of adults and children with MM
• Developed and validated the very first objective MM assessment tool, the MM-COAST.
• Developed several new outcome measures--MM-Function, MM-IMPACT, IMPROVE--that are in various stages of validation with support from a National Institutes of Health/National Institute of Arthritis and Musculoskeletal and Skin Diseases R01 grant
• Established the first-in-human pilot clinical trial of O₂ nanosensors to measure muscle mitochondrial function
• Conducting a clinical trial of passive periodic acceleration in MM

MBChB, Edinburgh University Medical School, Scotland, UK, 1996

MRCPCH, Royal College of Physicians, Edinburgh, Scotland, 1999

Clinical Research Director

Assistant Professor of Pediatrics

North American Mitochondrial Disease Consortium, Education Committee Leader, 2024 -

NINDS, 2022 -

• Co-Leader, U24 ClinGen Gene Curation International Working Group to Curate Leigh Syndrome Spectrum Genes, 2019-2022
• Member, Mitochondrial Disease v2.0 Common Data Elements (CDE) Working Group, 2022-
• Co-Leader, U24 ClinGen Gene Curation International Working Group to Curate Primary Mitochondrial Disease Genes, 2022-

Rare Disease Clinical Research Network, Career Enhancement Committee Member, 2021-

Pennsylvania Muscle Institute, 2021-

Pennsylvania Neurological Society, 2019-

New York Academy of Sciences , 2019-

North American Mitochondrial Disease Consortium, Education Training Program Committee, 2018-2024

American Academy of Neurology, 2018-

American Medical Association, 2017-

Pennsylvania Medical Society, 2015-2019

Travel Award, Society for Inherited Metabolic Disorders, 2018, 2016

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

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

United Mitochondrial Disease Foundation Burroughs Wellcome Travel Award, 2011, 2012, 2013

European Paediatric Neurology Society Travel Bursary, 2009

Society for the Study of Inborn Errors of Metabolism, Three Year Membership Scholarship Award, UK, 2009

Society for the Study of Inborn Errors of Metabolism Travel Award, UK, 2009

Research Institute Travel Award, Hospital for Sick Children, Toronto, 2008-2009

Winston Churchill Travel Fellowship, London, 2007

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

Addressing the Research Gap in Mitochondrial Myopathy with Validated Outcome Measures and Natural History
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Aug. 1, 2024 - July 21, 2029
PI: Zolkipli-Cunningham
The goal of this award is to conduct a five-year natural history study of adults and children with genetically confirmed mMitochondrial myopathy and develop new outcome measures for future clinical trials.

Development and Clinical Validation of Noninvasive Diagnostics for Mitochondrial Disease
Department of Defense Education Activity, Grant No. W81XWH2210590
October 2022 - September 2026
PI: Marni Falk
Protocol PI and Co-lead of Tow of the projects: Zolkipli-Cunningham
The overall goal of this four-project award is to develop a non-invasive clinical diagnostic test suitable for diagnosis and/or screening for mitochondrial dysfunction.

ORCID

United Mitochondrial Disease Foundation Scientific and Medical Advisory Board