TERAPIA DE GENES
Leigh syndrome global patient registry
We are partnering with Sanford Research to create a worldwide registry for Leigh syndrome patients. Please learn more at: https://www.curemito.org/leighsyndromeregistry
Leigh syndrome toolkit
We are working on AboutLeighsyndrome.com a new resource for the Leigh syndrome community. This website will be dedicated to LS education, research, support, and more for both patients and physicians.
Please sign up to be notified when the site goes live and share with us what information and resources are important to you! Additionally, please reach out to us at email@example.com with any questions, comments, or collaboration inquiries.
A huge thank you to PTC Therapeutics, Inc. for their generous sponsorship to make this resource possible for the global Leigh syndrome community!
We have started a yeast drug repurposing project for SURF1 Leigh syndrome with Perlara PBC in August, 2022. Since then, a pilot screen of 2,500 known drugs was completed and we have hits! To learn more please visit:
We look forward to sharing more results from this project as well as funding more Leigh syndrome genes!
Genetic Testing Opportunity for individuals with Suspected Mitochondrial Disease
Do you have suspected mitochondrial disease? If so, you may be eligible to participate in a Rare Genomes Project research program to identify genetic cause of your disease. For details please visit:
We are partnering with Dr. Michal Minczuk (University of Cambridge), Dr. Alessandro Prigione (University of Dusseldorf), and Dr. Steven Gray (University of Texas Southwestern) . Researchers are workgin on creating an ATP6 animal model, creating neurons from Induced pluripotent stem cells (iPSC) lines, and exploring base editing for AAV9 gene therapy for mtDNA Leigh syndrome.
We are collaborating with UT Southwestern Texas on gene therapy project for SURF1 Leigh syndrome. Learn more at: https://www.curemito.org/surf1
We are collaborating with Rarebase on drug repurposing for Leigh syndrome genes. Please learn more here: https://www.curemito.org/rarebase
C-PATH - data sharing
C-Path and Cure Mito Announce Data Sharing Agreement to Support Treatment Development For Leigh Syndrome and Mitochondrial Disease. Please learn more here: https://www.curemito.org/cpath
CDISC - data standards
Cure Mito Foundation is collaborating with Sumptuous Data Sciences, LLC in order to data interoperability project of Leigh syndrome patient registry data and CDISC standards. Please learn here: https://curemito.org/cdisc
Coriell - biorepository
Cure Mito Foundation is partnering with The Coriell Institute for Medical Research, a world leader in biobanking (the collection of biosamples for research purposes) to collect and store cells from patients with Leigh Syndrome. Coriell is an independent, non-profit biomedical research center dedicated to the study of the human genome.
AllStripes - medical records data collection
AllStripes collects medical records on behalf of patients, removing all burden from patients and caregivers to connect their health portal accounts or upload their files. Patients have access to their medical records. Records can later be digitized and used for a research study. There are no research studies going on at this time. To view results to date, please click HERE.
To join please click HERE.
For frequently asked questions, please click HERE.