Research
A universal gene therapy for Diamond-Blackfan anemia is poised for clinical testing
Diamond-Blackfan anemia (DBA), first described at Boston Children’s Hospital in 1938, is a rare blood disorder in which the bone marrow cannot make mature, functioning red blood cells. Children with this life-threatening anemia have few treatment options. A small handful with a well-matched donor can be cured with bone marrow transplant, but most rely on ... Read More about A universal gene therapy for Diamond-Blackfan anemia is poised for clinical testing
Patient Stories
A heavy-medaled gymnast and his close call with leg-length discrepancy
Ask 15-year-old Kaleb what he likes about gymnastics and with a sly smile, he’ll say, “flipping around.” That’s Kaleb: understated, funny. But watch him in action, and you’ll see a focused gymnast who earned two medals in the 2024 Men’s Eastern National Championships. He probably won’t mention that two years ago, a surgeon told his ... Read More about A heavy-medaled gymnast and his close call with leg-length discrepancy
Research
Skin organoid could guide new treatments for skin conditions, hair loss
What does it take to build healthy skin? Two research groups converged on this question from different angles. They’ve now produced the most detailed view to date of the cell types and cell collaborations that go into creating our body’s largest organ. Several years ago, Karl Koehler, PhD, and colleagues at Boston Children’s Hospital used ... Read More about Skin organoid could guide new treatments for skin conditions, hair loss
Research
Fuel to be faster: Studying the effects of low energy availability at the Boston Marathon
Like many sports medicine specialists, Kristin Whitney, MD, MA, suspected that many of the issues she treats in runners — bone stress injuries, anemia, decreased response to training, and reduced endurance to name a few — stemmed from insufficient nutrition. Key takeaways Runners with indicators of low energy availability had slower finish times and more ... Read More about Fuel to be faster: Studying the effects of low energy availability at the Boston Marathon
Patient Stories
For Fiadh: Pushing the envelope to treat drug-resistant epilepsy
Fiadh is a bubbly and empathetic 4-year-old. And if you ask her parents, Elaine and Dario, she’s also mischievous and wild. “She knows when she shouldn’t be doing something,” Elaine says. “Then she gives you a look, giggles, and does it anyway.” Fiadh’s tenacity likely comes from her mother, which is a good thing. After ... Read More about For Fiadh: Pushing the envelope to treat drug-resistant epilepsy
Research
Making pediatric health equity research truly equitable: An EDI review process
A burgeoning number of studies are examining pediatric health equity, diversity, and inclusion (EDI). But if not done right, health equity research can do a disservice, perpetuating biases and wrong assumptions that actually exacerbate inequities. To guide EDI-related studies, the Institutional Review Board (IRB) at Boston Children’s Hospital (through Tina Young Poussaint, MD, and Susan ... Read More about Making pediatric health equity research truly equitable: An EDI review process
Research
Mutations during prenatal development may contribute to schizophrenia
Schizophrenia is known to have a genetic component, and variants in 10 genes have been identified as markedly increasing schizophrenia risk. But together, these genes account for under 5 percent of cases. Now, a pilot study in the journal Science suggests another important contributor to schizophrenia: distinctive patterns of non-inherited (somatic) mutations. These mutations appear ... Read More about Mutations during prenatal development may contribute to schizophrenia
Patient Stories
Clara now runs, dances, and sings along to Taylor Swift thanks to a new life-changing heart surgery
The time had finally come. Only two weeks after a transformative heart operation at Boston Children’s, 11-year-old Clara Portnoy stood in a sprinter’s starting position on an open stretch of grass during her school’s field day. Surrounded by classmates and teachers, she was ready to go. Born with a condition in which the structures on ... Read More about Clara now runs, dances, and sings along to Taylor Swift thanks to a new life-changing heart surgery
Patient Stories
Griffin’s return to the slopes and sea after kneecap dislocation
Whether cruising down a snowy trail or catching a wave, 18-year-old Griffin Srokose loves the adrenaline and freedom he feels when snowboarding and surfing. He used to enjoy lacrosse as well, but after dislocating his left kneecap during a game at the age of 14, his kneecap continued to pop out of place. By the ... Read More about Griffin’s return to the slopes and sea after kneecap dislocation
Research
Breaking new ground in cerebral cavernous malformation research
Children with cavernous malformations face unique treatment challenges due to factors such as the malformation’s location, size, risk of bleeding, and the complexities of pediatric tissue development. To address these issues effectively, advanced diagnostics and precise interventions are essential. This is why Ed Smith, MD, and the team at the Cerebrovascular Surgery and Interventions Center ... Read More about Breaking new ground in cerebral cavernous malformation research