Archive for Nancy Fliesler
Could a pill treat sickle cell disease?
The new gene therapies for sickle cell disease — including the gene-editing treatment Casgevy, based on research at Boston Children’s Hospital — have been game-changing for the patients who have received them. But Stuart Orkin, MD, the Boston Children’s hematologist whose work led the way to Casgevy, wants to go even further. “The editing therapy ... Read More about Could a pill treat sickle cell disease?
A sickle cell first: Base editing, a new form of gene therapy, leaves Branden feeling ‘more than fine’
Though he doesn’t remember it, Branden Baptiste had his first sickle cell crisis at age 2. Through elementary school, he was in and out of the hospital with pain episodes, not knowing why. As he got older, he learned he had sickle cell disease. His red blood cells were forming sickle shapes and getting stuck ... Read More about A sickle cell first: Base editing, a new form of gene therapy, leaves Branden feeling ‘more than fine’
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
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
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
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
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
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
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
Shoring up heart muscle’s mini ‘managers’ to treat heart failure
Our heart muscle is studded with tiny dyads, intricately designed structures that manage incoming electrical signals and calcium release to coordinate our heartbeats. Could gene therapy help maintain dyads’ structure and boost the function of failing hearts? A new study suggests it can. “We know that in heart failure from many causes, dyads become disorganized,” says ... Read More about Shoring up heart muscle’s mini ‘managers’ to treat heart failure