3d illustration of the human brain with visible blood vessels illustrating Alzheimer's disease and dementia, which Biogen is developing treatments for
Credit: Lars Neumann/Getty Images

Genomenon has announced a partnership with rare neuro-disease orgs COMBINEDBrain, SynGAP, and SLC-6A1 Connect. Along with pharma partners, the team aim to accelerate the development of precision drugs to treat rare neurodevelopmental disorders.

“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.”

Although rare diseases comprise most of the world’s smallest drug markets, they also include some of the most expensive treatments in the world, including the just-approved Hemgenix (CSL) for hemophilia B, which reportedly costs $3.5 million per course of treatment.  There are at least 55 drugs in development for rare neurological diseases.

Through its AI-driven genomics platform, Genomenon aims to deliver comprehensive genomic data for rare diseases that helps 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.

The company’s Mastermind Genomic Search Engine is reportedly used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results. Mastermind Genomic Landscapes, meanwhile, inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

A recent study revealed that traditional research sources are missing evidence for up to 70% of clinically encountered variants. This lack of comprehensive data increases the risk of program failure in clinical trials. Genomenon is partnering with COMBINEDBrainSynGAP Research Fund, and SLC-6A1 Connect to provide that essential information.

COMBINEDBrain is devoted to speeding the development of treatments for people with severe rare neurodevelopmental disorders by pooling efforts, studies, and data. Founded by 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.”

Mike Graglia founded the SynGAP Research Fund to find answers when his son was diagnosed with SYNGAP1 in 2018. This is 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 young 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.”

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