Archive for neuroscience
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 about Zika study reveals how infection can cause microcephaly
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 about Perfecting the craft of modeling disease in stem cells: Dosh Whye
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 about Facial weakness: A dark matter detective story
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 about Inspired by her daughter, one mom helps families navigate complex epilepsy
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 about Another angle on Alzheimer’s: CSF, proteomics, and metabolic enzymes
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 about BMI and the adolescent brain: A concerning connection
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 about Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
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 about Could gene therapy relieve post-hemorrhagic hydrocephalus?
A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
When cells recognize a danger, such as an infection, they activate the innate immune system. Sentinel molecules sound an alarm, recruiting immune cells to take down the threat. In 2016, Judy Lieberman, MD, PhD and her colleagues at Boston Children’s Hospital showed that a protein called gasdermin D initiates a final, decisive step: pyroptosis, a ... Read More about A promising target for ALS and other neurodegenerative disorders: Curbing inflammation
Why do so many dementia treatments fail? Questioning mouse models of tau accumulation
To date, the search for effective treatments for dementia has yielded only disappointments. Many recent drug candidates target the tau protein, which aggregates and forms tangles in patients’ brain tissue and is involved in 75 percent of all dementias. While tau-targeting drugs have looked promising in mouse models, they’ve failed in clinical trials. A recent ... Read More about Why do so many dementia treatments fail? Questioning mouse models of tau accumulation