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Latest revision as of 12:54, 21 November 2025
The Cure KCNH1 Foundation is a US non-profit organization founded in 2000 to find treatments and a cure for KCNH1-related disorders[1] . KCNH1-related disorders are a Developmental and Epileptic Encephalopathy (DEE) and include profound intellectual disability, seizures, developmental delay, and more[2] . The Cure KCNH1 Foundation’s mission is: “to urgently improve the lives of individuals and families affected by KCNH1-Related Disorders by accelerating research toward the development of effective treatments and a cure, building connections within the KCNH1 patient and professional community, raising awareness about KCNH1-related disorders, and advocating for the needs of families affected by rare diseases.”[3]
Michaelle Jinnette, mother to affected son Tristan, founded the organization in 2000. Tristan was diagnosed with a KCNH1-related disorder at 15 months of age[4].
The hallmark of the Cure KCNH1 Foundation’s work is an emphasis on scientific research. Research encouraged and supported by the foundation is with the goal to enhance understanding of KCNH1-related disorders, build research tools and infrastructure, and pursue various avenues towards KCNH1-specific therapeutics[5].
- ^ “Home”. Cure KCNH1. Retrieved 2025-11-21.
- ^ Sundman, Alexandra K.; Jin, Shuyi; Vadlamudi, Lata; King, Glenn F. (2025-09-23). “The molecular basis of KCNH1-related epileptic encephalopathy and the challenge of developing targeted therapeutics”. Brain: A Journal of Neurology: awaf353. doi:10.1093/brain/awaf353. ISSN 1460-2156. PMID 40986435.
{{cite journal}}: CS1 maint: article number as page number (link) - ^ Harrison, Nicholas (2019-06-01), “Introduction”, Our Civilizing Mission, Liverpool University Press, pp. 1–13, ISBN 978-1-78694-176-3, retrieved 2025-11-21
- ^ “Home”. Cure KCNH1. Retrieved 2025-11-21.
- ^ “Research”. Cure KCNH1. Retrieved 2025-11-21.
