Archive for autism spectrum disorder
Families and data scientists build insights on Phelan-McDermid syndrome
This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window. “At first, we ... Read More about Families and data scientists build insights on Phelan-McDermid syndrome
Beth Stevens: A transformative thinker in neuroscience
When 2015 MacArthur “genius” grant winner Beth Stevens, PhD, began studying the role of glia in the brain in the 1990s, these cells—“glue” from the Greek—weren’t given much thought. Traditionally, glia were thought to merely protect and support neurons, the brain’s real players. But Stevens, from the Department of Neurology and the F.M. Kirby Neurobiology ... Read More about Beth Stevens: A transformative thinker in neuroscience
Autism clinical trials are ripe for improvement
Walter Kaufmann, MD, is co-director of the Fragile X Syndrome Program and a member of the department of Neurology at Boston Children’s Hospital. He was site principal investigator for three arbaclofen trials sponsored by Seaside Therapeutics and currently advises the company on data analyses. This post is second in a two-part series on clinical trials in ... Read More about Autism clinical trials are ripe for improvement
Tagged: autism spectrum disorder, clinical trials
Rett syndrome sees glimmer of hope in Phase I trial
Part 1 of a two-part series. (Read part 2.) In the world of neurodevelopmental disorders, an exciting trend is the emergence of specific molecular targets and treatments through genetic research. A case in point is IGF-1 therapy for Rett syndrome, a devastating disorder in girls that affects their ability to speak, walk, eat and breathe. It ... Read More about Rett syndrome sees glimmer of hope in Phase I trial
Parvalbumin neurons—new insight into the workings of a superhero brain cell
Say you’re a scientist in a movie, and you want to find out what gives a superhero his powers. You’d investigate any special suits he wears, whether he drinks any potions and what they are, right? Real-life scientists are following the same strategy to understand a powerful group of specialized brain cells. Parvalbumin cells (PV-cells) ... Read More about Parvalbumin neurons—new insight into the workings of a superhero brain cell
Inherited autism mutations found via genomic sequencing in Mideast families
Autism clearly runs in some families, yet few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Now, three large Middle Eastern families with autism spectrum disorders (ASDs) have led the way ... Read More about Inherited autism mutations found via genomic sequencing in Mideast families