Research
curing stxbp1
The STXBP1 Foundation works with multiple collaborators and stakeholders to support research to accelerate development of therapies for our patient community.
In fostering partnerships with researchers, physicians, medical industry leaders, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and identify therapeutic strategies.
understanding the genetics behind stxbp1 disorders
What is the 9th Chromosome? What does it do? What does a mutation on the gene STXBP1 and how many ways can it mutate?
In this video, Dr. Kristen Park from the Children’s Hospital of Colorado explains the genetics of how a mutation in STXBP1 occurs.
Partnership with THE Childrens Medical Research Institute
STXBP1 Australia has partnered with the CMRI; to undergo a study to understand disease specific biomarkers in a patient with STXBP1 disorder.
published journals
Mutations in STXBP1 were first identified in 2008 in five patients with a devastating early infantile epileptic encephalopathy. Today there are over 3,000 medical journal articles referencing STXBP1 disorder.
“Medical science has proven time and again that when the resources are provided, great progress in the treatment, cure, and prevention of disease can occur.”
Michael J Fox.
