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A Young Scientist looking through a microscope

scientific papers

This page is dedicated to sharing scientific research about Leigh syndrome and mitochondrial disease, as well as papers about data, data sharing, data standards, and papers on patient perspectives and experience.  

This page is not meant to be a complete list of every published paper on mitochondrial disease - for that, you can check out PubMed, a database maintained by the United States National Library of Medicine (NLM) at the National Institutes of Health (NIH).


The papers listed here are those describing research we would like to highlight. If you know of a study or a paper that you think should be included here, please let us know. Your suggestions can help make our resource better and more useful for everyone interested in learning about mitochondrial diseases.

Academic papers

Leigh syndrome global patient registry: uniting patients and researchers worldwide

AAV-based in vivo gene therapy for neurological disorders

Nuclear DNA influences variation in mitochondrial DNA


Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids

Leigh syndrome

Natural History of SURF1 Deficiency: A Retrospective Chart Review

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

Scientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models

Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome

Recent developments in mitochondrial medicine (Part 2)

Recent developments in mitochondrial medicine (Part 1)

Drug Development for the Therapy of Mitochondrial Diseases

Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

Mitochondrial DNA-Associated Leigh Syndrome and NARP

papers about patient perspectives


What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases


Patient-Partners as Educators: Vulnerability Related to Sharing of Lived Experience

Reflections on patient engagement by patient partners: how it can go wrong

The experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust

Hope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty

Asset-Based Health Care for Children With Severe Neurologic Impairment


Mitochondrial Medicine

  Volkmar Weissig, Marvin Edeas

Volume 1: Targeting Mitochondria

Volume 2: Assessing Mitochondria

Volume 3: Manipulating Mitochondria and Disease- Specific Approaches


Measuring the Impact of Data Sharing Platforms

Rare Diseases Cures Accelerator Data and Analytics Platform (RDCA-DAP) best practices and recommendations for FAIR data, toward alignment with International Regulatory agencies

Use of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey

Solving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network

Data silos are undermining drug development and failing rare disease patients

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