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Genomenon collaborates with rare disease foundations on drug development

By Brian Buntz | November 29, 2022

GenomenonThe AI-driven genomics company Genomenon has announced that it will work with COMBINEDBrain, SynGAP Research Fund and SLC-6A1 Connect.

COMBINEDBrain is a 501(c)(3) company focused on developing new treatments for neurodevelopmental disorders. COMBINEDBrain partners with more than 30 neurodevelopmental rare disease foundations, including SynGAP Research Fund and SLC6A1 Connect. “Our collaboration with Genomenon represents a big step toward finding a cure for genetic developmental disorders,” said COMBINEDBrain founder Dr. Terry Jo Bichell in a news release. “We are excited for what the future holds.”

The SynGAP Research Fund is a 501(c)(3) public charity focused on improving the quality of life of people with SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder associated with an SYNGAP1 gene variant. “Kids with SYNGAP1 are disabled for life and require huge investments and sacrifices from their families,” said Mike Gragli, SYNGAP1 founder, in a news release. “Collaborations to improve the quality of life for patients and their families are essential to our fight for a cure.”

SLC6A1 Connect is a patient organization aiming to find treatments for SLC6A1, a rare neurological condition in small children. SLC6A1 can cause seizures, movement and speech disorders and intellectual disability. “Countless scientists, clinicians, and researchers have worked toward a rare disease solution for decades,” said SLC6A1 Connect founder Amber Freed. “Luckily for my son and other patients like him, the time to employ the technology is now.”

The Ann Arbor, Michigan–based Genomenon aims to work with the foundations and their pharmaceutical partners to gather genomic data to develop precision drugs to treat rare neurodevelopmental disorders.

The company uses an AI-driven genomics platform to generate data for rare disease drug developers. Its data can help pharmaceutical clients with clinical trials and estimate disease prevalence estimates for market assessment. Its customers also use the platform to raise awareness of rare diseases and associated clinical trials or treatments.

“We are honored to collaborate with COMBINEDBrain, SynGAP Research Fund, and SLC6A1 Connect,” said Mike Klein, CEO of Genomenon, in a statement. “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.”


Filed Under: Rare disease
Tagged With: COMBINEDBrain, Genomenon, SLC-6A1 Connect, SynGAP Research Fund
 

About The Author

Brian Buntz

As the pharma and biotech editor at WTWH Media, Brian has almost two decades of experience in B2B media, with a focus on healthcare and technology. While he has long maintained a keen interest in AI, more recently Brian has made making data analysis a central focus, and is exploring tools ranging from NLP and clustering to predictive analytics.

Throughout his 18-year tenure, Brian has covered an array of life science topics, including clinical trials, medical devices, and drug discovery and development. Prior to WTWH, he held the title of content director at Informa, where he focused on topics such as connected devices, cybersecurity, AI and Industry 4.0. A dedicated decade at UBM saw Brian providing in-depth coverage of the medical device sector. Engage with Brian on LinkedIn or drop him an email at bbuntz@wtwhmedia.com.

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