STXBP1 Australia

STXBP1 is a rare genetic disorder where a mutation occurs on the ninth chromosome where the encoding for syntaxin binding protein one is laid out in our DNA. Syntaxin binding protein controls is one of a group of proteins that help signals in the brain to move between neurons. As a result, people with an STXBP1 mutation can present with a range of epilepsy, developmental delay and intellectual disability. The STXBP1 Australia Foundation was established by a group of families with children who have been given an STXBP1 diagnosis. Our aim is to ensure Australian families are able to access treatments and potential cures. We do this by raising money to fund novel research and replicate research studies that might allow our kids to participate in global studies and drug trials. We are currently working towards tax deductible giving status in Australia. Please visit our website if you'd like to learn more or donate.