Cure KCNH1 Foundation
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, among others.[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]
History
Michaelle Jinnette, mother to her affected son, founded the organization in 2000. Her son was diagnosed with a KCNH1-related disorder at fifteen months of age.[4]
Work
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]
References
- ↑ "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. doi:10.1093/brain/awaf353. ISSN 1460-2156. PMID 40986435 Check
|pmid=value (help). Unknown parameter|article-number=ignored (help) - ↑ Harrison, Nicholas (2019-06-01), "Introduction", Our Civilizing Mission, Liverpool University Press, pp. 1–13, doi:10.3828/liverpool/9781786941763.003.0001, ISBN 978-1-78694-176-3, retrieved 2025-11-21
- ↑ "Home". Cure KCNH1. Retrieved 2025-11-21.
- ↑ "Research". Cure KCNH1. Retrieved 2025-11-21.
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