About the FAM177A1 Research Fund
The Mission of the FAM177A1 Research Fund is to improve the lives of every patient with FAM177A1 Disease through research and development of treatments, therapies and support systems.
The FAM177A1 Research Fund was inspired by Charlotte and Cooper, the first two in the world diagnosed with a rare disease caused by a variant on the FAM177A1 gene. Disruptions on the FAM177A1 gene cause intellectual disability, seizures, autism, arthritis and other neurodegenerative issues. There is currently no cure or treatment.
We are guided by a dedicated Scientific Advisory Board comprised of brilliant scientists, researchers, gene experts, and industry leaders. Together we are charting a course to treatments and a cure that may include
drug repurposing, drug development and gene therapy. Precise treatments for FAM177A1 patients are within reach. Let's do this!
The Hawkins are a family of five including Charlotte and Cooper two of the first patients in the world identified with FAM177A1 Associated Neurodevelopmental Disorder.
Charlotte and Cooper are followed by a team at the Undiagnosed Diseases Network (UDN)-Stanford who discovered their disease-causing variant on FAM177A1 via whole genome sequencing in 2019. Through gene-matching databases, we know of a handful of other cases with similar clinical presentations and loss of function (LOF) variants on FAM177A1.
We know that there are more patients out there and we will likely find them soon now that this variant has been identified and with papers about FAM177A1 scheduled to be published in the next few months.
After 15 years, we finally received a diagnosis, and information about this previously understudied gene is accumulating at a relatively rapid pace. Our team of clinicians and researchers thinks that treatment is within reach. We are determined and urgently seeking more information as Charlotte’s motor function is in decline and Cooper’s seizures are worsening.
You can watch a short film about the Hawkins family here.