C
CurePDE Foundation
20K raised
120K deployed
Pyridoxine Dependent Epilepsy
Pyridoxine-Dependent Epilepsy, often abbreviated as PDE, is an extremely rare genetic disorder that affects the brain's electrical activity, leading to seizures. This condition is classified as an inborn error of metabolism, meaning it is present from birth due to a genetic mutation
Patient population
- 1 in 300000 prevalence
- 100 patients engaged
Associated genes
ALDH7A1
About us
CurePDE.org is dedicated to supporting families affected by pyridoxine-dependent epilepsy (PDE) and advancing research to find a cure. The organization provides resources, raises awareness, and fosters a supportive community for those impacted by this rare genetic disorder. Additionally, CurePDE.org support scientific work through grants and funding.
Website
Members
AS
Anna Sowa
Research plans
Title | Research strategy | Stage | Status | Partners | Description | Links | Number of projects |
|---|---|---|---|---|---|---|---|
Ongoing Research | Other | -- | -- | -- | -- | -- |