STXBP1 protein plays an essential role in synaptic vesicle exocytosis – the fundamental process by which all neurotransmitters are released from nerve cells. There are two major classes of ...

Cassie Snedecor said she grieved when her son Jack received a level three autism diagnosis almost 19 years ago. “It’s the autism nobody likes to talk about,” Snedecor said. “He’s not like Rain Man or ...

SRF (SYNGAP1), RSRT (Rett), CACNA1A, STXBP1, Loulou (CDKL5), & KCNQ2 Cure (KCNQ2) collaborate to support Dr. Devinsky’s research for clinical trial readiness. Co-funded by multiple organizations, this ...

The father of a three-year-old boy with a rare genetic condition is to run five marathons in five days to raise money for a charity that carries out research into the disorder. Dan Booth, from ...

Bridget Finn says she had an “incredible pregnancy” — even though she was pregnant during the COVID-19 pandemic. “It was this sort of beautiful time that [my husband] Sam [Beaubien] and I shared ...

CAP-002 is the first engineered IV-delivered gene therapy that crosses the blood-brain-barrier and detargets the liver and dorsal root ganglia to enter the clinic Capsida Biotherapeutics (“Capsida”) ...

WELLESLEY – She jumps into the pool and creates a splash. The act is inaudible. Any noise created from entering the water is drowned out. She swims a lap that is hardly visible: a wall of supporters ...