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
Research
First-of-their-kind findings turn conventional wisdom about diffuse hemispheric glioma on its head
Diffuse hemispheric glioma, H3G34-mutant (DHG-H3G34) is a type of high-grade glioma that typically affects adolescents and young adults. The lack of targeted treatments contributes to a very poor prognosis for patients with these malignant brain tumors. But what if some of what we thought we knew about DHG-H3G34 turned out to be wrong? That’s the ... Read More about First-of-their-kind findings turn conventional wisdom about diffuse hemispheric glioma on its head
Patient Stories
Kiersten finds new purpose after care for life-threatening cardiomyopathy
Being just three miles away from her cardiac care team at Boston Children’s makes all the difference in the world to New Jersey native Kiersten Rock-Torcivia as she starts her sophomore year at Boston College. She is now closer to the specialists who help her manage a rare and life-threatening cardiomyopathy. Kiersten initially believed she ... Read More about Kiersten finds new purpose after care for life-threatening cardiomyopathy
Research
Delving into the causes of attention deficits: Childhood adversity, lost sleep, and dopamine
New research on the effects of adversity in childhood ties together stress, sleep loss, and attention deficits later in life. It also uncovers some of the underlying brain biology and potential treatment approaches — while revealing a puzzling sex-specific effect. The lab of Takao Hensch, PhD, has long studied time windows during development — commonly ... Read More about Delving into the causes of attention deficits: Childhood adversity, lost sleep, and dopamine
Patient Stories
Cerebral adrenoleukodystrophy: How the Cooksons dodged a devastating disease
Heather Cookson believes that if she hadn’t insisted her son Ricky get a brain MRI to investigate his frequent headaches, neither he nor his younger brother Jerry would be walking or living full lives today. “I just wanted peace of mind,” she says. “Ricky got the MRI, and that’s when the lesion was found.” The ... Read More about Cerebral adrenoleukodystrophy: How the Cooksons dodged a devastating disease
Research
Gene therapy for adrenoleukodystrophy: Studies find both risks and benefits
Cerebral adrenoleukodystrophy (CALD), portrayed in the film Lorenzo’s Oil, is a devastating disorder caused by a mutation on the X chromosome. Boys with CALD progressively lose their neurologic function and, if untreated, eventually become non-responsive. Most pass away within 10 years of diagnosis. Until recently, the only treatment for CALD was a blood (hematopoietic) stem ... Read More about Gene therapy for adrenoleukodystrophy: Studies find both risks and benefits