PITTSBURGH (PRWEB) July 20, 2023 -- COMBINEDBrain is a non-profit consortium representing over 60 patient advocacy groups for rare, genetic neurodevelopmental disorders. One of their priority initiatives is to identify biomarkers for these rare disorders. As such, they have developed a robust biorepository of patient samples from each community and are on a mission to collect over 500 samples from rare disease organizations over the next 6 months – including samples from individuals with SCN2A-related disorders.
“This collection of patient samples for researchers will be to help identify biomarkers and assist in the acceleration treatments for our children. Samples collected from our community will be stored and available to researchers across the world,” stated Jason Curry, the SCN2A Foundation Founder.
“I was recently introduced to Terry Jo Bichell, MPH, PhD and Kristen Hatcher, MSEd and immediately understood the value of their work, both for SCN2A, and the greater rare disease population. It’s rare - no pun intended, to come across folks that truly care about accelerating treatment options, and also have the focus and means to do so. We’re fortunate to be included in this study and I couldn’t be happier to help in their efforts,” stated Curry.
“We stick to our mission as an organization by collaborating with clinicians, scientists and industry and one thing they all agree on is the importance of biomarker discovery for each of these rare communities”, said Dr. Bichell, Founder of COMBINEDBrain. “One easy way to start identifying biomarkers is to collect patient samples, often blood or other biofluid, for researchers, clinicians or industry to study and advance the field of SCN2A research for your kids” said Dr. Bichell.
Dr. Bichell and her team have made it incredibly easy to collect samples from each community across the country for the next 6 months. COMBINEDBrain now travels across the US to family conferences and other rare disease group conferences and collects biosamples from anyone within the COMBINEDBrain organization at little to no cost for the patient foundations. Sample collections focus on collecting blood and urine from any individual diagnosed with a COMBINEDBrain disorder – as well as healthy control samples. “This is an incredible opportunity for The SCN2A Foundation to develop a robust biorepository for researchers to access and study. These samples are critical to accelerating treatment options for SCN2A kids” said Bichell.
Biorepository Roadshow
The COMBINEDBrain Roadshow includes stops at over 15 different locations across the United States between March-December 2023. At these collection sites, individuals diagnosed with any disorder (including SCN2A-RD) may walk in, have a sample of blood and urine collected and walk out. “Our goal is for the entire sample collection process to take less than 30 minutes” says Bichell. Any samples collected for the SCN2A community would be readily available for distribution to interested researchers. Read more about collection locations here.
About SCN2A
SCN2A is a gene that helps regulate the central nervous system. Malfunctions in this gene can cause complex and deadly symptoms relating to epilepsy that are difficult to treat with general anti epileptic medications, as well as broad symptoms across the autism spectrum. To further our epilepsy and autism treatment research, please also consider donating here.
About COMBINEDBrain
The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain) is a non-profit consortium representing more than 65 different neurodevelopmental disorders. Their mission is to expedite meaningful treatments for individuals diagnosed with these disorders by pooling together efforts across clinicians, scientists, advocates and industry. For more information, visit https://combinedbrain.org/.
About The SCN2A Foundation
Incorporated in 2023 - Our mission is to accelerate targeted research and treatment for the SCN2A through strategic, and cutting edge technologies, processes, and partnerships. For more information, visit https://www.scn2afoundation.org, or follow us on Twitter, Facebook, Instagram, or Linkedin.
Connie Curry, The SCN2A Foundation, 1 724-544-0376, [email protected]
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