Genomenon Partners with Three Rare Disease Foundations to Advance Precision Drug Development

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Disease-specific genomic information provides hope for patients and families affected by rare neurodevelopmental disorders

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“Our collaboration with Genomenon represents a big step toward finding a cure for genetic developmental disorders." –Dr. Terry Jo Bichell, Founder, COMBINEDBrain

Genomenon Inc., an AI-driven genomics company, announced a partnership with COMBINEDBrain, SynGAP Research Fund, and SLC-6A1 Connect. Genomenon will collaborate with the foundations and their pharma partners, delivering comprehensive genomic data on their diseases of focus with the goal of accelerating the development of precision drugs to treat rare neurodevelopmental disorders.

Through its AI-driven genomics platform, Genomenon delivers comprehensive genomic data for rare diseases that helps pharmaceutical companies identify the patients most likely to respond to clinical trials, provides evidence-based disease prevalence estimates for market assessment, and raises awareness of the diseases and any associated clinical trials and/or treatments to researchers and clinicians at the point of diagnosis.

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 variants¹, information that is essential to developing treatments for genetic disorders. This lack of comprehensive data increases the risk of program failure in clinical trials. Genomenon is partnering with COMBINEDBrain, SynGAP, and SLC-6A1 Connect to provide that essential information to ensure the best chance of success.

COMBINEDBrain is devoted to speeding the path to clinical treatments for people with severe rare neurodevelopmental disorders by pooling efforts, studies, and data. Founded by Dr. Terry Jo Bichell in 2019, COMBINEDBrain has grown into a collaboration across 32 neurodevelopmental rare disease foundations—two of which are SynGAP Research Fund and SLC-6A1 Connect. “Our collaboration with Genomenon represents a big step toward finding a cure for genetic developmental disorders,” said Bichell. “We are excited for what the future holds.”

When his son was diagnosed with SYNGAP1 in 2018, Mike Graglia founded the SynGAP Research Fund to find answers. A rare genetic disease caused by variation in the SYNGAP1 gene, common symptoms include intellectual disability, low muscle tone, speech delays, and epilepsy. According to Graglia, “Kids with SYNGAP1 are disabled for life and require huge investments and sacrifices from their families. Collaborations to improve the quality of life for patients and their families are essential to our fight for a cure.”

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. “Countless scientists, clinicians, and researchers have worked toward a rare disease solution for decades,” said Freed. “Luckily for my son and other patients like him, the time to employ the technology is now.”

“We are honored 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.”

About Genomenon

Genomenon is an AI-driven genomics company focused on making genomic information actionable for patients with rare genetic diseases and cancer. Keeping pace with the ever-evolving body of knowledge within genomics, Genomenon connects current research with patient DNA to accelerate clinical decision-making and pharmaceutical drug discovery.

For more information, visit Genomenon.com
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1. https://pubmed.ncbi.nlm.nih.gov/33281875/

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Candace Chapman
Genomenon
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