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The SCN2A Foundation today announced a research collaboration with Unravel Biosciences, Inc., an AI-enabled therapeutics company established to advance drugs for complex diseases. The collaboration intends to advance preclinical research for SCN2A-related disorders caused by loss-of-function mutations, a subset of SCN2A conditions driven by insufficient functional protein.
SCN2A is a gene critical for normal brain signaling and one of the largest genetic causes of autism and epilepsy. In many individuals, certain genetic changes, including splice-site, frameshift, nonsense, and select missense mutations, result in the body producing too little working SCN2A protein, causing serious neurological symptoms such as epilepsy and neurodevelopmental impairment. This project is specifically designed to address that shared biological problem.
“Our focus is on SCN2A mutations where the fundamental issue is a lack of functional protein,” said Jason Curry, Co-Founder of the SCN2A Foundation. “By partnering with Unravel Biosciences, we are taking a disciplined, mechanism-driven approach to identify strategies that may increase functional SCN2A protein in the brain.”
“We are excited to collaborate on a program that is clearly defined by the complex patient biology rather than diagnosis alone,” said Richard Novak, PhD, CEO and Co-Founder of Unravel Biosciences. “Precision matters in rare diseases where each patient with a shared diagnosis may have quite different therapeutic responses; this effort reflects a thoughtful approach to matching therapies to the right mutation mechanisms for each patient using our Living Molecular Twin approach.”
Under the collaboration, the teams will evaluate therapeutic approaches in mutation-relevant laboratory models, with an emphasis on understanding how loss-of-function SCN2A protein responds at the RNA and protein level, influenced by other genetic and environmental factors specific to each patient. The work is intended to inform future therapeutic development.
We are deeply committed to finding better treatments for children with SCN2A-related disorders as quickly as possible. This partnership with Unravel Biosciences is a significant step forward in that mission. By leveraging advanced AI and innovative methods, we aim to rapidly identify the most effective therapies to improve the lives of Loss of Function patients.
Unravel Biosciences has a strong track record in rapidly identifying and advancing drug candidates for complex diseases, particularly rare neurodevelopmental disorders. Recently, Unravel expanded its collaboration with Cure Syngap to accelerate the identification of drug candidates for Syngap1-related disorders, a condition with genetic similarities to SCN2A-Related Disorders.
Previously, the Unravel team made significant breakthroughs by leveraging their unique drug discovery process for Rett Syndrome, identifying vorinostat as a promising treatment superior to trofinetide, the only approved treatment for Rett Syndrome. The findings are published in Communications Medicine.
Because vorinostat had already been approved by the Food and Drug Administration (FDA) for a blood disease, Unravel Biosciences was able to rapidly repurpose it as a new therapy.
Additionally, Unravel’s platform has led to four clinical trials starting in 2024, including RVL002 and RVL027, further demonstrating the efficacy of their approach.
They’ve partnered and worked with our most revered friends, including:
Cure Syngap’s Chief Scientific Officer, Kathyn Helde, says, “The Unravel approach is a powerful and fast combination of molecular readouts from patients with AI-driven analysis of bioinformatics. While SRF has supported other drug discovery efforts, each has sought answers in a different way. I am excited about this particular effort, and we expect to have candidates in as soon as 3 months.”
This study aims to uncover novel therapeutic targets, repurpose existing drugs, stratify Loss of Function SCN2A-Related Disorder patients into subgroups based on their predicted response, and use these insights to inform current and future therapeutics.
The results will provide a list of compounds for each condition, including FDA-approved drugs and supplemental compounds, that are predicted to restore the disease RNA network to health.
As this is a preliminary study, for those interested, please complete this HIPAA-secure form to be considered: https://bit.ly/3LCq1Xe.
Thank you to all who made this possible. To further this study, please consider making a donation here: https://bit.ly/4bVHjZQ
We will have a community call with the Unravel team on 2/3/26 at 6pm EST, and ongoing community calls on the first Tuesday of every month. To register for this call to learn more about the Unravel Project, and subsequent calls, please sign up here: https://bit.ly/scn2a-community-call
For those SCN2A DEE / early onset epilepsy patients, Praxis Precision Medicines has the only current treatment that’s in advanced stages of clinical trials. To learn more about participating, we recommend contacting them here: https://bit.ly/46ldsX9
Whether you participate in the study, join our monthly community calls, or support this work through a donation, every action accelerates progress. This is precision medicine in motion—and together, we're building the future our children deserve.
Register for the study | Join the community call | Support our research
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The SCN2A Foundation today announced a research collaboration with Unravel Biosciences, Inc., an AI-enabled therapeutics company established to advance drugs for complex diseases. The collaboration intends to advance preclinical research for SCN2A-related disorders caused by loss-of-function mutations, a subset of SCN2A conditions driven by insufficient functional protein.
SCN2A is a gene critical for normal brain signaling and one of the largest genetic causes of autism and epilepsy. In many individuals, certain genetic changes, including splice-site, frameshift, nonsense, and select missense mutations, result in the body producing too little working SCN2A protein, causing serious neurological symptoms such as epilepsy and neurodevelopmental impairment. This project is specifically designed to address that shared biological problem.
“Our focus is on SCN2A mutations where the fundamental issue is a lack of functional protein,” said Jason Curry, Co-Founder of the SCN2A Foundation. “By partnering with Unravel Biosciences, we are taking a disciplined, mechanism-driven approach to identify strategies that may increase functional SCN2A protein in the brain.”
“We are excited to collaborate on a program that is clearly defined by the complex patient biology rather than diagnosis alone,” said Richard Novak, PhD, CEO and Co-Founder of Unravel Biosciences. “Precision matters in rare diseases where each patient with a shared diagnosis may have quite different therapeutic responses; this effort reflects a thoughtful approach to matching therapies to the right mutation mechanisms for each patient using our Living Molecular Twin approach.”
Under the collaboration, the teams will evaluate therapeutic approaches in mutation-relevant laboratory models, with an emphasis on understanding how loss-of-function SCN2A protein responds at the RNA and protein level, influenced by other genetic and environmental factors specific to each patient. The work is intended to inform future therapeutic development.
We are deeply committed to finding better treatments for children with SCN2A-related disorders as quickly as possible. This partnership with Unravel Biosciences is a significant step forward in that mission. By leveraging advanced AI and innovative methods, we aim to rapidly identify the most effective therapies to improve the lives of Loss of Function patients.
Unravel Biosciences has a strong track record in rapidly identifying and advancing drug candidates for complex diseases, particularly rare neurodevelopmental disorders. Recently, Unravel expanded its collaboration with Cure Syngap to accelerate the identification of drug candidates for Syngap1-related disorders, a condition with genetic similarities to SCN2A-Related Disorders.
Previously, the Unravel team made significant breakthroughs by leveraging their unique drug discovery process for Rett Syndrome, identifying vorinostat as a promising treatment superior to trofinetide, the only approved treatment for Rett Syndrome. The findings are published in Communications Medicine.
Because vorinostat had already been approved by the Food and Drug Administration (FDA) for a blood disease, Unravel Biosciences was able to rapidly repurpose it as a new therapy.
Additionally, Unravel’s platform has led to four clinical trials starting in 2024, including RVL002 and RVL027, further demonstrating the efficacy of their approach.
They’ve partnered and worked with our most revered friends, including:
Cure Syngap’s Chief Scientific Officer, Kathyn Helde, says, “The Unravel approach is a powerful and fast combination of molecular readouts from patients with AI-driven analysis of bioinformatics. While SRF has supported other drug discovery efforts, each has sought answers in a different way. I am excited about this particular effort, and we expect to have candidates in as soon as 3 months.”
This study aims to uncover novel therapeutic targets, repurpose existing drugs, stratify Loss of Function SCN2A-Related Disorder patients into subgroups based on their predicted response, and use these insights to inform current and future therapeutics.
The results will provide a list of compounds for each condition, including FDA-approved drugs and supplemental compounds, that are predicted to restore the disease RNA network to health.
As this is a preliminary study, for those interested, please complete this HIPAA-secure form to be considered: https://bit.ly/3LCq1Xe.
Thank you to all who made this possible. To further this study, please consider making a donation here: https://bit.ly/4bVHjZQ
We will have a community call with the Unravel team on 2/3/26 at 6pm EST, and ongoing community calls on the first Tuesday of every month. To register for this call to learn more about the Unravel Project, and subsequent calls, please sign up here: https://bit.ly/scn2a-community-call
For those SCN2A DEE / early onset epilepsy patients, Praxis Precision Medicines has the only current treatment that’s in advanced stages of clinical trials. To learn more about participating, we recommend contacting them here: https://bit.ly/46ldsX9
Whether you participate in the study, join our monthly community calls, or support this work through a donation, every action accelerates progress. This is precision medicine in motion—and together, we're building the future our children deserve.
Register for the study | Join the community call | Support our research
Vlad Magdalin
