A new partnership between industry and three rare disease foundations has formed with the goal of accelerating the development of precision drugs to treat rare neurodevelopmental disorders.
AI-driven genomics company Genomenon will partner with COMBINEDBrain, SynGAP Research Fund, and SLC-6A1 Connect and their pharma partners to deliver genomic data on their diseases of focus.
Understanding rare diseases remains a significant challenge. A recent study revealed that traditional research sources are missing evidence for up to 70% of clinically encountered variants, information that is essential to developing treatments for genetic disorders. This lack of comprehensive data increases the risk of program failure in clinical trials.
COMBINEDBrain is devoted to speeding the path to clinical treatments for people with severe rare neurodevelopmental disorders by pooling efforts, studies, and data.
Mike Graglia founded the SynGAP Research Fund when his son was diagnosed with SYNGAP1 in 2018. A rare genetic disease caused by variation in the SYNGAP1 gene, common symptoms include intellectual disability, low muscle tone, speech delays, and epilepsy.
Similarly, SLC6A1 Connect was founded by Amber Freed when her son was diagnosed with SLC6A1, another rare neurological condition in small children. Like SYNGAP1, SLC6A1 causes intellectual disability, severe movement and speech disorders, and seizures.
“We are honoured to collaborate with COMBINEDBrain, SynGAP Research Fund, and SLC6A1 Connect,” said Mike Klein, CEO of Genomenon. “By putting critical information at the fingertips of researchers and clinicians seeking diagnoses for their patients, this new venture represents a shared mission to ensure that no patient goes undiagnosed or untreated.”