Blog

A universal gene therapy for Diamond-Blackfan anemia is poised for clinical testing

Posted on by | Basic/Translational, Research
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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
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A heavy-medaled gymnast and his close call with leg-length discrepancy

Posted on by | Patient Stories
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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
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Skin organoid could guide new treatments for skin conditions, hair loss

Posted on by | Basic/Translational, Research
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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
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Fuel to be faster: Studying the effects of low energy availability at the Boston Marathon

Posted on by | Clinical, Research
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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
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For Fiadh: Pushing the envelope to treat drug-resistant epilepsy

Posted on by | Patient Stories
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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
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Making pediatric health equity research truly equitable: An EDI review process

Posted on by | Clinical, Research
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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
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Mutations during prenatal development may contribute to schizophrenia

Posted on by | Basic/Translational, Research
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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
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Clara now runs, dances, and sings along to Taylor Swift thanks to a new life-changing heart surgery

Posted on by | Patient Stories
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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
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Griffin’s return to the slopes and sea after kneecap dislocation

Posted on by | Patient Stories
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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
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Breaking new ground in cerebral cavernous malformation research

Posted on by | Research
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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
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