Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Abstract Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts. Leigh syndrome causal variants span o...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02871-7 |
| _version_ | 1797556488531607552 |
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| author | Jesse D. Moreira Karan K. Smith Sophia Zilber Kasey Woleben Jessica L. Fetterman |
| author_facet | Jesse D. Moreira Karan K. Smith Sophia Zilber Kasey Woleben Jessica L. Fetterman |
| author_sort | Jesse D. Moreira |
| collection | DOAJ |
| description | Abstract Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts. Leigh syndrome causal variants span over 110 different genes and likely lead to both unique and shared biochemical alterations, often resulting in overlapping phenotypic features. The mechanisms by which pathogenic variants in mitochondrial genes alter cellular phenotype to promote disease remain poorly understood. The rarity of cases of specific causal variants creates barriers to drug discovery and adequately sized clinical trials. Body To address the current challenges in drug discovery and facilitate communication between researchers, healthcare providers, patients, and families, the Boston University integrative Cardiovascular Metabolism and Pathophysiology (iCAMP) Lab and Cure Mito Foundation hosted a Leigh Syndrome Symposium. This symposium brought together expert scientists and providers to highlight the current successes in drug discovery and novel models of mitochondrial disease, and to connect patients to providers and scientists to foster community and communication. Conclusion In this symposium review, we describe the research presented, the hurdles ahead, and strategies to better connect the Leigh syndrome community members to advance treatments for Leigh syndrome. |
| first_indexed | 2024-03-10T17:02:33Z |
| format | Article |
| id | doaj.art-1e67ced0bac841229cdd5852cf7d0950 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-10T17:02:33Z |
| publishDate | 2023-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-1e67ced0bac841229cdd5852cf7d09502023-11-20T10:53:56ZengBMCOrphanet Journal of Rare Diseases1750-11722023-11-011811610.1186/s13023-023-02871-7Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh SyndromeJesse D. Moreira0Karan K. Smith1Sophia Zilber2Kasey Woleben3Jessica L. Fetterman4Evans Department of Medicine, Whitaker Cardiovascular Institute, Boston University Chobanian and Avedisian School of MedicineEvans Department of Medicine, Whitaker Cardiovascular Institute, Boston University Chobanian and Avedisian School of MedicineCure Mito FoundationCure Mito FoundationEvans Department of Medicine, Whitaker Cardiovascular Institute, Boston University Chobanian and Avedisian School of MedicineAbstract Background Leigh syndrome, an inherited neurometabolic disorder, is estimated to be the most common pediatric manifestation of mitochondrial disease. No treatments are currently available for Leigh syndrome due to many hurdles in drug discovery efforts. Leigh syndrome causal variants span over 110 different genes and likely lead to both unique and shared biochemical alterations, often resulting in overlapping phenotypic features. The mechanisms by which pathogenic variants in mitochondrial genes alter cellular phenotype to promote disease remain poorly understood. The rarity of cases of specific causal variants creates barriers to drug discovery and adequately sized clinical trials. Body To address the current challenges in drug discovery and facilitate communication between researchers, healthcare providers, patients, and families, the Boston University integrative Cardiovascular Metabolism and Pathophysiology (iCAMP) Lab and Cure Mito Foundation hosted a Leigh Syndrome Symposium. This symposium brought together expert scientists and providers to highlight the current successes in drug discovery and novel models of mitochondrial disease, and to connect patients to providers and scientists to foster community and communication. Conclusion In this symposium review, we describe the research presented, the hurdles ahead, and strategies to better connect the Leigh syndrome community members to advance treatments for Leigh syndrome.https://doi.org/10.1186/s13023-023-02871-7Leigh syndromeMitochondriaMitochondrial geneticsMitochondrial diseaseCommunityPatient registries |
| spellingShingle | Jesse D. Moreira Karan K. Smith Sophia Zilber Kasey Woleben Jessica L. Fetterman Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome Orphanet Journal of Rare Diseases Leigh syndrome Mitochondria Mitochondrial genetics Mitochondrial disease Community Patient registries |
| title | Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome |
| title_full | Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome |
| title_fullStr | Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome |
| title_full_unstemmed | Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome |
| title_short | Teamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome |
| title_sort | teamwork makes the dream work functional collaborations between families scientists and healthcare providers to drive progress in the treatment of leigh syndrome |
| topic | Leigh syndrome Mitochondria Mitochondrial genetics Mitochondrial disease Community Patient registries |
| url | https://doi.org/10.1186/s13023-023-02871-7 |
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