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.
Lina, Never forgotten, USA
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.
Papers & Resources
- Cure Mito Papers
- Disease Models and Mechanisms
- Therapeutic Approaches and Drug Development
- Registries and Natural History Studies
- Genetics and Reproductive Strategies
- Clinical Characterization
- Patient Care and Advances in Mito Medicine
- Patient perspectives
- Data and Data Standards
- Resources
Leigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, S., Woleben, K., Johnson, S. C., Moura de Souza, C. F., Boyce, D., Freiert, K., Boggs, C., Messahel, S., Burnworth, M. J., Afolabi, T. M., & Kayani, S. (2023). Leigh syndrome global patient registry: uniting patients and researchers worldwide. Orphanet Journal of Rare Diseases, 18, Article 264. https://doi.org/10.1186/s13023-023-02886-0
Learn MoreInteroperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
Parag Shiralkar, Bakare, P., Woleben, K., Zilber, S., Parag Shiralkar, Bakare, P., Woleben, K., & Zilber, S. (2024). Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards. Journal of the Society for Clinical Data Management, 4(1). https://doi.org/10.47912/jscdm.244
Learn MoreTeamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Moreira, J. D., Smith, K. K., Zilber, S., Woleben, K., & Fetterman, J. L. (2023). 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, 18(1), 71. https://doi.org/10.1186/s13023-023-02871-7
Learn MoreDisruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome
Hanaford, A. R., Khanna, A., Truong, V., James, K., Liao, R., Chen, Y., Mulholland, M., Kayser, E. B., Watanabe, K., Hsieh, E. S., Morgan, P. G., Sarkar, S., Kalia, V., & Johnson, S. C. (2025). Disruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome. PloS one, 20(6), e0324268. https://doi.org/10.1371/journal.pone.0324268
Learn MoreMitochondria - the CEO of the cell
Lee-Glover, L. P., Picard, M., & Shutt, T. E. (2025). Mitochondria - the CEO of the cell. Journal of cell science, 138(9), jcs263403. https://doi.org/10.1242/jcs.263403
Learn MoreiPSC models of mitochondrial diseases
Sonja Heiduschka, Alessandro Prigione (2025). iPSC models of mitochondrial diseases. Neurobiology of Disease, Volume 207.
https://doi.org/10.1016/j.nbd.2025.106822.
Disease models of Leigh syndrome: From yeast to organoids
Manzur, A. Y., Crivaro, V., Zucchini, F., del Carmen Menjivar, M., Freisinger, P., MacLeod, E., ... & Dionisi-Vici, C. (2024). Gaps in the management of patients with congenital disorders of glycosylation (CDG) across Europe: Results from a survey of professionals and families. Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12804
Learn MoreModeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids
Tolle, I., Tiranti, V., & Alessandro Prigione. (2023). Modeling mitochondrial DNA diseases: from base editing to pluripotent stem‐cell‐derived organoids. EMBO Reports, 24(4). https://doi.org/10.15252/embr.202255678
Learn MoreOn the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models
Walker, M. A., Miranda, M., Allred, A., & Mootha, V. K. (2022). On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Current Opinion in Neurobiology, 72, 80–90. https://doi.org/10.1016/j.conb.2021.09.006
Learn MoreDefective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome
Inak, G., Rybak-Wolf, A., Lisowski, P., Pentimalli, T. M., Jüttner, R., Glažar, P., Uppal, K., Bottani, E., Brunetti, D., Secker, C., Zink, A., Meierhofer, D., Henke, M.-T., Dey, M., Ciptasari, U., Mlody, B., Hahn, T., Berruezo-Llacuna, M., Karaiskos, N., & Di Virgilio, M. (2021). Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome. Nature Communications, 12(1), 1929. https://doi.org/10.1038/s41467-021-22117-z
Learn MoreNovel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish
ISharma S, et al. Novel MRI Development to Quantify Organ Growth in Zebrafish. Zebrafish. 2024 Feb;21(1):28-38. doi: 10.1089/zeb.2023.0018. Epub 2023 Aug 21. PMID: 37603286; PMCID: PMC10886421.
Learn MoreN-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome
Haroon S, et al. N-acetylcysteine and Cysteamine Prevent Azide-Induced Neuromuscular Decompensation in Zebrafish Leigh Syndrome Models. Hum Mol Genet. 2023 Jun 15;32(12):1988–2004. doi: 10.1093/hmg/ddad031.
Learn MoreIncreased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice
Dell'agnello C, et al. Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice. Hum Mol Genet. 2007;16(4):431-44. doi: 10.1093/hmg/ddl477. PMID: 17210671.
Learn MoreConstitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
Agostino A, Invernizzi F, Tiveron C et al. (2003). Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12: 399–413.
Learn MoreSURF1 knockout cloned pigs: Early onset of a severe lethal phenotype
Reference: Quadalti C, Brunetti D, Lagutina I et al. (2018). SURF1 knockout cloned pigs: early onset of a severe lethal phenotype. BiochimBiophysActaMolBasisDis1864:2131–2142.
Learn MoreInduced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential
Reference: Meshrkey F, Scheulin KM, Littlejohn CM, Stabach J, Saikia B, Thorat V, Huang Y, LaFramboise T, Lesnefsky EJ, Rao RR, West FD, Iyer S. Induced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential. Stem Cell Res Ther. 2023 Nov 7;14(1):320. doi: 10.1186/s13287-023-03546-7. PMID: 37936209; PMCID: PMC10631039.
Learn MoreQuantitative analysis of mitochondrial morphologies in human induced pluripotent stem cells for Leigh syndrome
Reference: Meshrkey F, Cabrera Ayuso A, Rao RR, Iyer S. Quantitative analysis of mitochondrial morphologies in human induced pluripotent stem cells for Leigh syndrome. Stem Cell Res. 2021 Dec;57:102572. doi: 10.1016/j.scr.2021.102572. Epub 2021 Oct 12. PMID: 34662843; PMCID: PMC10332439.
Learn MoreEvaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity
Reference: Bakare AB, Dean J, Chen Q, Thorat V, Huang Y, LaFramboise T, Lesnefsky EJ, Iyer S. Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity. Int J Mol Sci. 2021 Sep 26;22(19):10344. doi: 10.3390/ijms221910344. PMID: 34638685; PMCID: PMC8508996.
Learn MoremRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders
Reference: Grace HE, Galdun P 3rd, Lesnefsky EJ, West FD, Iyer S. mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders. Stem Cells Dev. 2019 Jul 1;28(13):846-859. doi: 10.1089/scd.2019.0045. Epub 2019 May 20. PMID: 31017045; PMCID: PMC6602115.
Learn MoreCell-Permeable Succinate Increases Mitochondrial Membrane Potential and Glycolysis in Leigh Syndrome Patient Fibroblasts
Reference: Bakare AB, Rao RR, Iyer S. Cell-Permeable Succinate Increases Mitochondrial Membrane Potential and Glycolysis in Leigh Syndrome Patient Fibroblasts. Cells. 2021 Aug 31;10(9):2255. doi: 10.3390/cells10092255. PMID: 34571904; PMCID: PMC8470843.
Learn MoreHypoxyStat, a small-molecule form of hypoxia therapy that increases oxygen-hemoglobin affinity
Blume SY, Garg A, Martí-Mateos Y, et al. HypoxyStat, a small-molecule form of hypoxia therapy that increases oxygen-hemoglobin affinity. Cell. 2025;188(6):1580-1588.e11. doi:10.1016/j.cell.2025.01.029.
Learn MoreCannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models
Puighermanal, E., Luna-Sánchez, M., Gella, A. et al. Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models. Nat Commun 15, 7730 (2024). https://doi.org/10.1038/s41467-024-51884-8
Learn MoreMitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome
Nakai, R., Varnum, S., Field, R.L. et al. Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome. Nat Metab (2024). https://doi.org/10.1038/s42255-024-01125-5
Learn MoreAAV-based in vivo gene therapy for neurological disorders
Ling, Q., Herstine, J. A., Bradbury, A., & Gray, S. J. (2023). AAV-based in vivo gene therapy for neurological disorders. Nature Reviews Drug Discovery, 22(9), 789-806. https://doi.org/10.1038/s41573-023-00766-7
Learn MoreGene Therapy for Mitochondrial Diseases: Current Status and Future Perspective
Di Donfrancesco, A., Massaro, G., Di Meo, I., Tiranti, V., Bottani, E., & Brunetti, D. (2022). Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective. Pharmaceutics, 14(6), 1287. https://doi.org/10.3390/pharmaceutics14061287
Learn MoreScientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA
Roberts, R. (2022). Scientists Reach New Milestone in Mitochondrial Base Editing: TALEDs Induce A-to-G Substitutions in Mitochondrial DNA. CRISPR Medicine News. Retrieved from https://crisprmedicinenews.com/news/scientists-reach-new-milestone-in-mitochondrial-base-editing-taleds-induce-a-to-g-substitutions-in/
Learn MoreDrug Development for the Therapy of Mitochondrial Diseases
Weissig, V. (n.d.). Drug Development for the Therapy of Mitochondrial Diseases [Review of Drug Development for the Therapy of Mitochondrial Diseases]. Science Direct.
Learn MoreAdeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome
Ling, Q., Rioux, M., Hu, Y., Lee, M., & Gray, S. J. (2021). Adeno-associated viral vector serotype 9-based gene replacement therapy for SURF1-related Leigh syndrome. Molecular Therapy - Methods & Clinical Development. https://doi.org/10.1016/j.omtm.2021.09.001
Learn MoreLeigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, S., Woleben, K., Johnson, S. C., Moura de Souza, C. F., Boyce, D., Freiert, K., Boggs, C., Messahel, S., Burnworth, M. J., Afolabi, T. M., & Kayani, S. (2023). Leigh syndrome global patient registry: uniting patients and researchers worldwide. Orphanet Journal of Rare Diseases, 18, Article 264. https://doi.org/10.1186/s13023-023-02886-0
Learn MoreNatural History of SURF1 Deficiency: A Retrospective Chart Review
Khan, T. R., Leprince, I., Messahel, S., Minassian, B. A., & Kayani, S. (2023). Natural History of SURF1 Deficiency: A Retrospective Chart Review. Pediatric Neurology, 140, 40-46. https://doi.org/10.1016/j.pediatrneurol.2022.12.002
Learn MoreGenetic testing for mitochondrial disease: the United Kingdom best practice guidelines
Mavraki, E., Labrum, R., Sergeant, K., Alston, C. L., Woodward, C., Smith, C., Knowles, C. V. Y., Patel, Y., Hodsdon, P., Baines, J. P., Blakely, E. L., Polke, J., Taylor, R. W., & Fratter, C. (2022). Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines. European Journal of Human Genetics, 31(2), 148–163. https://doi.org/10.1038/s41431-022-01249-w
Learn MoreGenetic and reproductive strategies to prevent mitochondrial diseases
Noemi Castelluccio, Katharina Spath, Danyang Li, Irenaeus F M De Coo, Lyndsey Butterworth, Dagan Wells, Heidi Mertes, Joanna Poulton, Björn Heindryckx, Genetic and reproductive strategies to prevent mitochondrial diseases, Human Reproduction Update, 2025;, dmaf004, https://doi.org/10.1093/humupd/dmaf004
Learn MoreEngineering mtDNA deletions by reconstituting end joining in human mitochondria
Fu Y, Land M, Cui R, et al. Engineering mtDNA deletions by reconstituting end-joining in human mitochondria. bioRxiv [Preprint]. 2024 Oct 17:2024.10.15.618543. doi: 10.1101/2024.10.15.618543. Update in: Cell. 2025 Mar 5. doi: 10.1016/j.cell.2025.02.009.
Learn MoreExpert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum
McCormick, E., Keller, K., Taylor, J. P., Coffey, A. J., Shen, L., Krotoski, D., Harding, B., Augusto, C., Ardissone, A., Bai, R., Peixoto, I., Bertini, E., Bluske, K., Christodoulou, J., Clause, A., Copeland, W. C., Diaz, G. A., Diodato, D., Dulik, M. C., & Enns, G. (2023). Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Annals of Neurology, 94(4), 696–712. https://doi.org/10.1002/ana.26716
Learn MoreNuclear DNA influences variation in mitochondrial DNA
DiCorato, A. (2023). Nuclear DNA influences variation in mitochondrial DNA. Broad Institute. https://www.broadinstitute.org/news/nuclear-dna-influences-variation-mitochondrial-dna
Learn MoreSURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype
Kayani, S., Daescu, V., Dahshi, H., Messahel, S., Woleban, K., Minassian, B.A., Ling, Q. and Gray, S.J. (2024), SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype. Am J Med Genet e63947. https://doi.org/10.1002/ajmg.a.63947
Learn MoreLeigh syndrome
Rahman, S. Leigh syndrome. Handb. Clin. Neurol. 194, 43–63 (2023).
DOI: 10.1016/B978-0-12-821751-1.00015-4
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
Rahman, S., & Thorburn, D. (1993). Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview (M. P. Adam, D. B. Everman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. Bean, K. W. Gripp, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/26425749/
Learn MoreMitochondrial DNA-Associated Leigh Syndrome and NARP
Thorburn, D. R., Rahman, J., & Rahman, S. (1993). Mitochondrial DNA-Associated Leigh Syndrome and NARP (M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, G. Mirzaa, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/20301352/
Learn MoreLeigh Syndrome: A Tale of Two Genomes
Reference: Bakare AB, Lesnefsky EJ, Iyer S. Leigh Syndrome: A Tale of Two Genomes. Front Physiol. 2021 Aug 11;12:693734. doi: 10.3389/fphys.2021.693734. PMID: 34456746; PMCID: PMC8385445.
Learn MoreTeamwork makes the dream work: functional collaborations between families, scientists, and healthcare providers to drive progress in the treatment of Leigh Syndrome
Moreira, J. D., Smith, K. K., Zilber, S., Woleben, K., & Fetterman, J. L. (2023). 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, 18(1), 71. https://doi.org/10.1186/s13023-023-02871-7
Learn MorePatient Care Standards for Primary Mitochondrial Disease
Patient. (2017). Patient Care Standards for Primary Mitochondrial Disease - GIM 2017.pdf. Google Docs. https://drive.google.com/file/d/0B2CWb9
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Learn MoreFetal and obstetrics manifestations of mitochondrial diseases
Alessia, A., Anastasia, G., Alessia, D.D. et al. Fetal and obstetrics manifestations of mitochondrial diseases. J Transl Med 22, 853 (2024). https://doi.org/10.1186/s12967-024-05633-6
Learn MoreRecent developments in mitochondrial medicine (Part 1)
Weissig, V., & Edeas, M. (2021). Recent developments in mitochondrial medicine (Part 1). 4open, 4, 2. https://doi.org/10.1051/fopen/2021002
Learn MoreRecent developments in mitochondrial medicine (Part 2)
Weissig, V., & Edeas, M. (2022). Recent developments in mitochondrial medicine (part 2). 4open, 5, 5. https://doi.org/10.1051/fopen/2022002
Learn MoreSafety of drug use in patients with a primary mitochondrial disease: An international Delphi-based consensus
De Vries, M. C., Brown, D. A., Allen, M. E., Bindoff, L., Gorman, G. S., Karaa, A., Keshavan, N., Lamperti, C., McFarland, R., Ng, Y. S., O’Callaghan, M., Pitceathly, R. D. S., Rahman, S., Russel, F. G. M., Varhaug, K. N., Schirris, T. J. J., & Mancuso, M. (2020). Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus. Journal of Inherited Metabolic Disease, 43(4), 800–818. https://doi.org/10.1002/jimd.12196
Learn MorePatient Perspectives: Patient as Teacher
The Impact of Listening to a Patient With Stiff-Person Syndrome on Her Disease Course
Zelikovich, Aaron S., Zamorska, Barbara, Michaelson, Nara Miriam (2025). Patient Perspectives: Patient as Teacher. Neurology e213433 Volume 104, doi:10.1212/WNL.0000000000213433. https://www.neurology.org/doi/abs/10.1212/
Learn MoreThe ultimate power play in research - partnering with patients, partnering with power
Richards, D. P., Bowden, J., Gee, P., Haagaard, A., Kothari, A., McKinnon, A., Primeau, C. A., Tricco, A. C., Wang, E., Woolley, K. L., & Li, L. C. (2025). The ultimate power play in research - partnering with patients, partnering with power. Research involvement and engagement, 11(1), 65. https://doi.org/10.1186/s40900-025-00745-9
Learn MoreBeing the other child - A systematic review on the quality of life and mental health of siblings of children with rare diseases
Boettcher, J., Kröger, F., Reinsberg, N., Wiegand-Grefe, S., & Zapf, H. (2024). Being the other child - A systematic review on the quality of life and mental health of siblings of children with rare diseases. Research in Developmental Disabilities, 155, 104868. https://doi.org/10.1016/j.ridd.2024.104868
Learn MoreInclusion in neurological research: empowering people living with neurological diseases
Ferretti, M.T., Uccheddu, M.B., Flanagan, R. et al. Inclusion in neurological research: empowering people living with neurological diseases. Nat Rev Neurol (2025). https://doi.org/10.1038/s41582-024-01047-6
Learn MoreAn auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken
Janssens, A., Drachmann, D., Barnes-Cullen, K. et al. An auto-ethnographic study of co-produced health research in a patient organisation: unpacking the good, the bad, and the unspoken. Res Involv Engagem 10, 76 (2024). https://doi.org/10.1186/s40900-024-00609-8
Learn MoreWhat matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases
Crellin, E., Martyn, M., McClaren, B., & Gaff, C. (2023). What matters to parents? A scoping review of parents’ service experiences and needs regarding genetic testing for rare diseases. *European Journal of Human Genetics, 31*(6), 869-878. https://doi.org/10.1038/s41431-023-01376-y
Learn MorePatient-Partners as Educators: Vulnerability Related to Sharing of Lived Experience
Wang, L., Volgman, A. S., Clark, L. T., Carrillo, R. G., & Auseon, A. J. (2023). Social determinants of health and cardiovascular disease: Implications for diverse populations. JACC: Case Reports. https://doi.org/10.1177/23743735231183677
Learn MoreReflections on patient engagement by patient partners: how it can go wrong
Richards, D. P., Poirier, S., Mohabir, V., Proulx, L., Robins, S., & Smith, J. (2023). Reflections on patient engagement by patient partners: How it can go wrong. Research Involvement and Engagement, 9(41). https://doi.org/10.1186/s40900-023-00454-1
Learn MoreThe experience of parents of children with rare diseases when communicating with healthcare professionals: towards an integrative theory of trust
Richards, D. P., Jordan, I., Strasser, T., & editors (2019). The economic burden of rare diseases: The CORD survey. Orphanet Journal of Rare Diseases, 14(254). https://doi.org/10.1186/s13023-019-1134-1
Learn MoreHope in the uncertainties and certainty for parents of children with rare neurological disorders. Part I (of 3): Uncertainty
Nevin, S. M., Beavis, E., Macintosh, R., Palmer, E. E., Sachdev, R., Le Marne, F. A., Bye, A. M., & Nunn, K. (2023). Hope in the uncertainties and certainty for parents of children with complex medical conditions. Journal of Paediatrics and Child Health, 59(6), 743-750. https://doi.org/10.1111/jpc.16165
Learn MoreAsset-Based Health Care for Children With Severe Neurologic Impairment
Morris, E., Hauer, J., & Bogetz, J. F. (2022). Asset-Based Health Care for Children With Severe Neurologic Impairment. Pediatrics, 150(3), e2021055654. https://doi.org/10.1542/peds.2021-055654
Learn MoreDelivering regulatory impact from consortium-based projects
Brumfield, M. A., Higson, G. C., Ollivier, C., & Seigneuret, N. (2025). Delivering regulatory impact from consortium-based projects. Nature reviews. Drug discovery, 10.1038/d41573-025-00098-8. Advance online publication. https://doi.org/10.1038/d41573-025-00098-8
Learn MoreInteroperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards
Parag Shiralkar, Bakare, P., Woleben, K., Zilber, S., Parag Shiralkar, Bakare, P., Woleben, K., & Zilber, S. (2024). Interoperability of Leigh Syndrome Patient Registry Data with Regulatory Submission Standards. Journal of the Society for Clinical Data Management, 4(1). https://doi.org/10.47912/jscdm.244
Learn MoreSolving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network
Solving medical mysteries in the AWS Cloud: Medical data-sharing innovation through the Undiagnosed Diseases Network | Amazon Web Services. (2022, January 21). Amazon Web Services. https://aws.amazon.com/blogs/publicsector/solving-medical-mysteries-aws-cloud-medical-data-sharing-innovation-undiagnosed-diseases-network/
Learn MoreData silos are undermining drug development and failing rare disease patients
Denton, N., Molloy, M., Charleston, S., Lipset, C., Hirsch, J., Mulberg, A. E., Howard, P., & Marsh, E. D. (2021). Data silos are undermining drug development and failing rare disease patients. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-01806-4
Learn MoreRare Disease Cures Accelerator (RDCA-DAP)
Measuring the Impact of Data Sharing Platforms | Trusted Data Sharing Network | Digital Research Environment. (2020). Aridhia.com. https://www.aridhia.com/blog/measuring-the-impact-of-data-sharing-platforms/
Learn MoreUse of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey
Facile, R., Muhlbradt, E. E., Gong, M., Li, Q., Popat, V., Pétavy, F., Cornet, R., Ruan, Y., Koide, D., Saito, T. I., Hume, S., Rockhold, F., Bao, W., Dubman, S., & Wurst, B. J. (2022). Use of Clinical Data Interchange Standards Consortium (CDISC) Standards for Real-world Data: Expert Perspectives From a Qualitative Delphi Survey. JMIR Medical Informatics, 10(1), e30363. https://doi.org/10.2196/30363
Learn MoreMeasuring the Impact of Data Sharing Platforms
Measuring the Impact of Data Sharing Platforms | Trusted Data Sharing Network | Digital Research Environment. (2020). Aridhia.com. https://www.aridhia.com/blog/measuring-the-impact-of-data-sharing-platforms/
Learn MoreMitoCarta 3.0
MitoCarta3.0 is an inventory of 1136 human and 1140 mouse genes encoding proteins with strong support of mitochondrial localization, now with sub-mitochondrial compartment and pathway annotations.
Learn MoreLeigh Map
The Leigh Map is a gene-to-phenotype interaction network which can be used as a diagnostic resource for Leigh syndrome, in combination with genetic sequencing. The user interface of Leigh Map is similar to Google Maps, whereby the user can zoom in to view increasingly detailed components and query elements of the map.
Learn MoreInternational Classification of Inherited Metabolic Disorders (ICIMD)
ICIMD is a hierarchical, group-based collation of all currently known inherited metabolic disorders. It aims to facilitate an improved understanding of the interconnections between conditions that share functional, clinical and diagnostic features.
Learn MoreVolume 1: Targeting Mitochondria
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1262-0
Learn MoreVolume 2: Assessing Mitochondria
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1266-8
Learn MoreVolume 3: Manipulating Mitochondria and Disease- Specific Approaches
Volkmar Weissig, & Edeas, M. (2021). Mitochondrial Medicine. In Methods in molecular biology. Springer Science+Business Media. https://doi.org/10.1007/978-1-0716-1270-5
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