Single large-scale mitochondrial DNA deletion syndromes: scientific and family conference optimizes the collection of rare disease research outcomes
Our study describes how efficient patient-researcher partnerships can develop and sustain novel mechanisms to collect rare disease data, improve our understanding of the natural history of these disorders, and support development of future treatments.
Authors
- Rebecca D. Ganetzky (ORCID: https://orcid.org/0000-0001-6238-8109)
- Ibrahim George‐Sankoh (ORCID: https://orcid.org/0000-0003-0237-7883)
- Sara Nguyen
- Amy Goldstein (ORCID: https://orcid.org/0000-0001-6593-5905)
- Laura E. MacMullen (ORCID: https://orcid.org/0000-0003-2458-6889)
- Elizabeth Reynolds (ORCID: https://orcid.org/0000-0001-7428-2176)
- MaryAnn Weis (ORCID: https://orcid.org/0000-0002-5749-3243)
- Mariya Redko
- Mika K. Poblete
- K. Stanley (ORCID: https://orcid.org/0009-0005-4787-2580)
Institutions
- Hope Foundation (US)
- University of Pennsylvania (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-08-04
- DOI
- https://doi.org/10.1186/s13023-025-03632-4
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Children's Hospital of Philadelphia
- Champ Foundation
- National Institutes of Health
- Intellectual and Developmental Disabilities Research Center
- National Center for Advancing Translational Sciences