Research
Playing the long game: An exciting discovery in telomere disease
Each time our cells divide, the protective caps that keep our chromosomes from fraying, called telomeres, lose a bit of their DNA. Telomeres shorten steadily as we age, but in certain medical conditions like dyskeratosis congenita, the process is accelerated. “Your telomeres determine your lifeline; how long they are determines how old your body is,” ... Read More about Playing the long game: An exciting discovery in telomere disease
Research
The sooner the better: An argument for fetal MRI before 16 weeks
To date, fetal magnetic resonance imaging (MRI) has been limited to the mid-second or the third trimester of pregnancy. This timing has been based on the belief that MRIs performed too early couldn’t produce diagnostic images because of the small fetal size and normal fetal motion. In addition, although practice guidelines indicate that first-trimester imaging ... Read More about The sooner the better: An argument for fetal MRI before 16 weeks
Patient Stories
Lacrosse, cerebral palsy, and leadership: Luke’s story
When he returned to lacrosse after surgery on his left leg, Luke Kilfoyle wasn’t nervous. In the five and a half months since his surgery, he’d worn a cast, gone to school in a wheelchair, used a walker, then a cane and ankle-foot orthosis (AFO). He’d spent hours in physical therapy and the gym. By ... Read More about Lacrosse, cerebral palsy, and leadership: Luke’s story
Research
Years in the making: Team performs successful fetal intervention for VOGM
On an ordinary Wednesday in March, a team of specialists from two institutions made the extraordinary happen: a first-of-its-kind intervention for a rare, life-threatening type of blood vessel anomaly called a vein of Galen malformation (VOGM) — performed in utero. The ultrasound-guided embolization involves deploying tiny metal coils into the affected vein via a microcatheter ... Read More about Years in the making: Team performs successful fetal intervention for VOGM
Patient Stories
No backing down: Sophia takes on a rare form of liver cancer
Sophia LaBorde is headstrong and “doesn’t back down,” says her mother, Alicia. So last year when Sophia had some gastrointestinal discomfort and a low appetite, she asked her parents to bring her to her local pediatrician. And when test after test ruled out more common culprits — lactose intolerance, heartburn, even thyroid disease — she ... Read More about No backing down: Sophia takes on a rare form of liver cancer
Research
Immune biomarkers predicted COVID-19 severity and could help in future pandemics
Why did some people fall critically ill from COVID-19 and others not? In May 2020, as COVID-19 swept the world, Boston Children’s Hospital helped launch a national, NIAID-funded study called IMPACC (IMmunoPhenotyping Assessment in a COVID-19 Cohort). Taking a “systems immunology” approach, the goal was to document the virus’s impact on the immune system in ... Read More about Immune biomarkers predicted COVID-19 severity and could help in future pandemics
Patient Stories
A ‘super’ new heart surgery for a super kid
When you’re the first person in the world to undergo a new type of heart surgery, you don’t have to use the procedure’s clinical name. You can give it any name you want, even your own. That’s what 7-year-old Easton Schlein’s family has done. While his Boston Children’s cardiac surgery team calls the groundbreaking procedure a “reverse ... Read More about A ‘super’ new heart surgery for a super kid
Patient Stories
On her own terms: Robot-assisted procedure gives Sage more independence
At 19, Sage Nault has had multiple surgeries, aimed at addressing challenges related to myelomeningocele, the most severe form of spina bifida. But it’s her most recent operation that might have the greatest impact on her quality of life. Known as a Mitrofanoff appendicovesicostomy and a Malone antegrade continence enema (MACE), the combined procedure has ... Read More about On her own terms: Robot-assisted procedure gives Sage more independence
Making autism evaluations accessible: Boston Children’s tests virtual options
At this time the virtual autism diagnosis program is only available to internal Boston Children’s Hospital primary care patients who receive care at the Children’s Hospital Primary Care Center or at Boston Children’s at Martha Eliot. Many obstacles can delay a diagnosis of autism in children, including language barriers, waiting lists for evaluation, and access ... Read More about Making autism evaluations accessible: Boston Children’s tests virtual options
Advancing mother-child health globally: Grace Chan MD, MPH, PhD
First in an ongoing series profiling researchers at Boston Children’s Hospital. Globally, five million children die annually before the age of 5. Forty percent of these deaths are in the first month — and many are preventable. Grace Chan, MD, MPH, PhD, finds these numbers unacceptable. They contrast starkly with U.S. medicine, including at Boston ... Read More about Advancing mother-child health globally: Grace Chan MD, MPH, PhD