Archive for intellectual disability
A global take on rare disease research: Maya Chopra, MBBS, FRACP
Several years ago, while working as a clinical geneticist at the Imagine Institute of Genetic Diseases in Paris, Dr. Maya Chopra saw a child with unexplained intellectual disability, a cleft palate, distinctive facial features, and an inability to speak. Through a genetic analysis, she and her colleagues identified a rare variant in one copy of ... Read More
Cracking the code on Kleefstra syndrome: It takes a community
Paul Terry is a staunch advocate for people with rare diseases — but researchers were only able to put a name to his condition five years ago. It was an answer he and his family had long sought. When Paul was a baby, his parents saw that he wasn’t hitting all his milestones. Their pediatrician ... Read More
Recommendations for reproducibility in stem cell research
The ability to program induced pluripotent stem cells (iPSCs) and drive their differentiation into a variety of neural cells is essential for studying neurological disorders, including intellectual and developmental disabilities (IDDs). But issues regarding variability and reproducibility from lab to lab make translating discoveries difficult, in turn slowing the progress of IDD research. To address ... Read More
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