Archive for neuroscience
From pain to purpose: An update on Dylan’s traumatic brain injury
We first introduced you to Dylan four years ago, when a traumatic brain injury led him to the Department of Neurosurgery for care and instilled in him a love of medicine. We caught up with the college senior this summer to see where life has taken him since he started an internship with the team ... Read More
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
Zika study reveals how infection can cause microcephaly
Prenatal exposure to viruses capable of infecting the fetal brain, particularly in the first trimester, can cause a range of developmental defects in the baby. The Zika epidemic in Brazil during 2015-2016 posed an extreme case, causing hundreds of babies to be born with microcephaly, or an abnormally small head. Although cases have waned significantly, ... Read More
Perfecting the craft of modeling disease in stem cells: Dosh Whye
Part of an ongoing series profiling researchers at Boston Children’s Hospital. Dosh Whye has always wanted to make peoples’ lives better, but he never imagined that tending to stem cells in a lab seven days a week would be the way he would do it. Now, as an assistant director of the Human Neuron Core ... Read More
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More
Inspired by her daughter, one mom helps families navigate complex epilepsy
Colleen Gagnon felt something wasn’t right soon after her daughter Niamh was born but tried to convince herself she was just overthinking. Fighting her instincts as a nurse and second-time mom, Colleen tried to link the dimple in Niamh’s forehead and darting eye movements to her being born six weeks early. But an eye doctor’s ... Read More
Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
Currently there are no objective, easily assessed diagnostic markers for Alzheimer’s disease, and no good therapeutic options. Taking an agnostic approach, proteomics expert Hanno Steen, PhD, and neurobiologist Judith Steen, PhD, who share a lab at Boston Children’s Hospital, teamed up to analyze proteomics data from the cerebrospinal fluid (CSF) that bathes the brain, combining ... Read More
BMI and the adolescent brain: A concerning connection
We all know that obesity is a growing epidemic in children and adults. A large national study now finds that preteens carrying excess weight have notable differences in cognitive performance, brain structures, and brain circuitry when compared to preteens with normal body-mass index (BMI). Funded by the National Science Foundation’s Harnessing the Data Revolution initiative, ... Read More
Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
As a newborn, Sam Hoffman never cried or made a sound. His mother, Carolyn, often had to wake him up to feed him. He missed many of his infant milestones. At one visit, his pediatrician tapped his leg and couldn’t get a reflex. A urine test found extremely high levels of 4-hydrobutyric acid or GHB ... Read More
Could gene therapy relieve post-hemorrhagic hydrocephalus?
Premature infants, especially very low birthweight babies, are at risk for intraventricular hemorrhage. A frequent complication of these brain bleeds is hydrocephalus, an accumulation of cerebrospinal fluid (CSF) in the brain ventricles that can gravely disrupt brain development. If hydrocephalus develops, a child may need shunt operations throughout life to manage the fluid buildup. Could ... Read More