About the FAM177A1 Research Fund

Our Mission

The Mission of the FAM177A1 Research Fund is to improve the lives of those affected by FAM177A1 through research and developments 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! 

Hawkins Family

The Hawkins are a family of five including the first two patients, Charlotte and Cooper, identified with FAM177A1 Associated Disease. 

Charlotte and Cooper are followed by a team at the 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 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 16 years, we finally have a diagnosis and information about this previously understudied gene is accumulating at a relatively rapid pace. Our team of clinicians and researchers think that a 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.