Blog

No labels or limits with Apert syndrome: A letter to parents

Dear parents, If you’re reading this, your child might have been recently diagnosed with Apert syndrome and you don’t know what comes next with this rare genetic disorder that causes fusion of your child’s skull, hands, and foot bones. Or maybe you’ve been in the Apert world for a while and are looking for people ... Read More

From injury to backflips: A path to recovery for gymnasts

Gymnasts can create the illusion that gravity doesn’t exist. As they spring from one acrobatic skill into the next, they leave spectators little time to consider the strain they’re putting on their wrists, elbows, and shoulders. Nonetheless, a single back handspring exerts force equal to two to four times an athlete’s weight on their upper ... Read More

From ‘hit to vial’: Discovery and optimization of a promising vaccine adjuvant

Many vaccines are only partially effective, have waning efficacy, or do not work well in the very young or the very old. For more than a decade, Ofer Levy, MD, PhD, and David Dowling, PhD, in the Precision Vaccines Program at Boston Children’s Hospital, have tried improving vaccines by adding compounds known as adjuvants to ... Read More

The power of a second opinion for Merritt’s spina bifida care

In March 2020 — at the height of the COVID-19 lockdown — Jenna, Brian, and their 2-year-old daughter Merritt were practically the only passengers on their flight from Charlotte to Boston. Waiting for them in Massachusetts were Dr. Benjamin Warf, Dr. Carlos Estrada, and other experts from the Spina Bifida and Spinal Cord Conditions Center ... Read More

Firearm suicides in children and youth: A state-by-state look

At a time when mental health problems are skyrocketing, a new study provides one of the most comprehensive state-by-state accountings to date of firearm suicides in children and youth. The findings, published in JAMA Pediatrics, are eye-opening — but could also help in crafting interventions. Lois Lee, MD, MPH, in the Division of Emergency Medicine ... Read More

Making genome sequencing a first-line test in rare disease

Children with rare diseases often undergo years of medical visits and genetic testing before they get a diagnosis. Over the past few years, clinics have started to embrace exome sequencing as a first genetic test, skipping time-consuming testing of individual genes and gene panels and getting to a diagnosis faster. But exome sequencing doesn’t always ... Read More

Boosting vaccines for the elderly with ‘hyperactivators’

As we age our immune systems start to flag, leaving us more susceptible to cancer and infections — and less responsive to vaccines and cancer immunotherapies. Going to the heart of the problem, Jonathan Kagan, PhD, a researcher in immunology at Boston Children’s Hospital, has identified a way to rejuvenate the elderly immune system. His ... Read More

The gut-brain connection: A new approach to OCD and tic disorders?

It’s natural for young children to use routines to help them navigate the world and for older children and teens to zero in on interests and hobbies. But if they veer into disruptive, unwanted obsessions or thoughts or the need to perform compulsive rituals, they may have obsessive-compulsive disorder (OCD). We know that OCD is ... Read More

Ted Williams, chocolate milkshakes, and a pioneering heart team: What Bruce remembers about his heart surgery 65 years later

Bruce Chansky was the star of his neighborhood after he had heart surgery at Boston Children’s. It was 1959, a time when a child having heart surgery wasn’t common — it was newsworthy. Eleven-year-old Bruce was featured in his hometown newspaper, which only furthered his celebrity in Beverly, Massachusetts. Friends, neighbors, and strangers all wanted ... Read More

Two rising stars in kidney genetics: Nina Mann and Amar Majmundar

A healthy, functional kidney must maintain a delicate balance of water, nutrients, and electrolytes so it can properly filter the blood and produce urine. That often makes caring for patients with kidney disease an exercise in chemistry and mathematics — an aspect of nephrology that attracted two young physician-scientists. Coming from different paths, Nina Mann, ... Read More