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Clinicians at the Child Study Center worked with experts in genetics, neuroimaging, and eye tracking to understand what causes childhood disintegrative disorder, a rare form of autism. Dylan started life as a typical baby, meeting his milestones for walking, talking, and other markers of normal development. In a home video from when Dylan was about 3, he climbs, bursting with energy, on the couch and pretends to read aloud from a picture book.
Exome sequencing allows scientists and clinicians to zero in on the mutations responsible for a disparate array of ailments. About eight years ago, a doctor in Turkey examined a 5-month-old boy for “failure to thrive and dehydration.” Paradoxically, his diapers were wet, so the medical team was inclined to suspect Bartter syndrome, a congenital kidney defect which is manageable if caught early. But the standard treatments weren’t working.
A new tool for gene editing offers new approaches to prevent disease. Adele Ricciardi navigates the corridors and stairways of the Hunter Building with practiced ease. The School of Medicine has come to feel like home after six years spent in its labs and classrooms. “When I came to medical school, I wanted to find research that was translational, bridging the gaps between basic science and medicine,” Ricciardi says. There’s no doubt she’s found it at the School of Medicine.
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.