Terry Jo Bichell, whose son’s Angelman syndrome inspired her to go back to college at the age of 49 and get a PhD in neuroscience, has long advocated for families affected by the rare neurological disease.
But now, she’s branching out.
The Tennessee scientist and mother of five has formed COMBINEDBrain — an acronym for “Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders.”
The new entity, headquartered in Nashville, is a coalition of 12 patient advocacy groups representing extremely rare genetic non-verbal neurodevelopmental (RGNN) diseases that generally affect only a few hundred people worldwide.
Bichell, 59, explained that her transparent, collaborative organization is, in effect, a spinoff of previous and current efforts to find a cure for Angelman syndrome.
“We’re going to build on the lessons learned by Angelman researchers and the drug development process to help other similar disorders,” Bichell told BioNews Services, which publishes this website. “The idea is that many rare genetic neurological disorders like Angelman syndrome will share similar biomarkers and outcome measures, so we shouldn’t have to remake the wheel in the drug development process.”
COMBINEDBrain will design and coordinate natural history studies and outcome measures, as well as work toward rodent model characterization and biomarker development for a range of diseases.