Research
Deep plasma proteomics: Back to the future
Blood plasma is collected from people routinely during clinical care and for research. It is potentially a rich source of protein biomarkers for diagnostic and prognostic purposes, for measuring response to treatment, and for revealing disease biology. Yet identifying such biomarkers in plasma with proteomics, our best available tool, has been a challenge: Ninety-nine percent ... Read More
Research
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
Research
Robotics, spinal fusion, and the quest for 100 percent accuracy
In any spinal fusion surgery, accurate screw placement is a top priority, and for good reason. Incorrectly positioned screws are the number one cause of surgical complications and revision surgeries according to the Scoliosis Research Society. While the vast majority of malpositioned screws — between four and 15 percent of all screws placed — do not ... Read More
Research
Making ionocytes: A step toward cell or gene therapy for cystic fibrosis
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators were a breakthrough for cystic fibrosis, improving the movement of chloride and water and moistening mucus secretions. But these drugs are expensive, don’t work in all patients with cystic fibrosis, and have side effects and interactions with other drugs. People who do respond to CFTR modulators must take ... Read More
Patient Stories
Making history: Gene therapy for CCALD gives Conner a second chance
Like a lot of 6-year-olds, Conner Hess finds joy in simple acts: drawing pictures, cuddling his two cats, and playing video games with his father. When his fun times at home in New York are interrupted by trips to Boston Children’s Hospital, he knows it’s to help fix a “boo-boo” in his brain. What he ... Read More
Patient Stories
Running the Boston Marathon with a purpose: Ben’s liver transplant journey
Ben is no stranger to sports — in fact he’s probably the most excited when he’s able to get on a soccer field or with his team. This April, he’ll be running alongside the Boston Children’s Hospital team at the Boston Marathon! At 18 years old, Ben has already overcome incredible challenges, so taking on ... Read More
Patient Stories
‘Sami’s trach helps him breathe’: Living with laryngeal cleft
Today, Sami is a playful toddler with so much energy that his parents need to remind him to take breaks. It’s a big change from just four years ago when he struggled to eat, drink, and breathe before being diagnosed with a laryngeal cleft. Sami’s parents, Ala’a and Mohamad, knew before he was even born ... Read More
Patient Stories
We didn’t give up hope: Emily’s fighting chance with her lung transplant
Emily lights up every room she’s in with her giggles and confidence — not to mention her sparkly painted nails and glittery makeup. At 6 years old, she’s able to win people over with her bright smile and electric personality. All this is made possible because Emily was given the gift of life — an ... Read More
Research
Study shows young adults don’t easily transition to self-care of diabetes
Diabetes is challenging to manage at any age, but even more so for young adults who are handling the condition on their own for the first time. They need to transition from pediatric to adult care as smoothly as possible — but a recent study finds this isn’t happening. Research led by Katharine Garvey, MD, MPH, ... Read More
Research
Girls and women in sports win the medal of lifelong health
Title IX, the law that prohibits sports discrimination on the basis of sex, has transformed sports for girls and women. Before its passage in 1972, only 295,000 female athletes participated in U.S. high school sports. Today that number is 3.2 million. In that same period, the number of female college athletes swelled from 30,000 to ... Read More