Archive for phelan-mcdermid syndrome
Exploring autism by way of three rare genetic disorders
Rajna Filip-Dhima, MS is a senior project manager for the Translational Neuroscience Center at Boston Children’s Hospital and for the Developmental Synaptopathies Consortium, which just received a new cycle of NIH funding. Autism spectrum disorder (ASD) is now believed to affect 1 in 59 children in the U.S. Over the past five years, Boston Children’s Hospital ... Read More about Exploring autism by way of three rare genetic disorders
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