Archive for research
Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
From the time of Preston Hall’s birth at 30 weeks, his parents navigated multiple diagnoses, surgeries and sometimes life-threatening medical issues. At 11 months, Preston underwent skull revision surgery for trigonocephaly (a fusion of the skull bones causing a triangular-shaped forehead). After surgery, his doctors discovered serious airway and gastrointestinal issues that led to his ... Read More about Finally in the game: Patient in drug trial for PTEN mutation seems to benefit
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
Detecting shunt failure in hydrocephalus without imaging or surgery: ShuntCheck
Antonio Venus-Reeve, 14, had his first shunt surgery for hydrocephalus when he was 2½ months old. Born at 25 weeks’ gestation, weighing less than two pounds, he had a serious brain bleed seven days later. As Antonio’s head began to swell with excess fluid, neurologists at Boston Children’s Hospital told his mother, Joanne Venus-Williams, that ... Read More about Detecting shunt failure in hydrocephalus without imaging or surgery: ShuntCheck
Food allergies: Turning tolerance back on
Hans Oettgen, MD, PhD, is Associate Chief of the Division of Allergy and Immunology at Boston Children’s Hospital. He leads a research group investigating mechanisms of allergic diseases. Not long ago I received a wonderful email from “Sam,” an 18-year-old young man with peanut allergy. He was participating in a clinical trial of oral immunotherapy ... Read More about Food allergies: Turning tolerance back on
Is rapamycin the new aspirin?
I’ve heard it said that if aspirin had to go through today’s FDA approval process, it would never be approved for over-the-counter use because it just does so many things. Lately, it’s been hard to cover biomedical research at Children’s without stumbling on another drug that’s also FDA-approved and also seems to have multiple uses: ... Read More about Is rapamycin the new aspirin?
The neurology resident that could
Elizabeth Engle used to wait in peoples’ driveways until midnight, hoping to enroll them in her genetic studies of eye-movement disorders. She landed there by chance: during her neurology residency, she saw a little boy whose eyes were frozen in a downward gaze. Wanting to find a solution to a disorder that others had written ... Read More about The neurology resident that could