Archive for gene therapy
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
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
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
Could gene therapy relieve post-hemorrhagic hydrocephalus?
Premature infants, especially very low birthweight babies, are at risk for intraventricular hemorrhage. A frequent complication of these brain bleeds is hydrocephalus, an accumulation of cerebrospinal fluid (CSF) in the brain ventricles that can gravely disrupt brain development. If hydrocephalus develops, a child may need shunt operations throughout life to manage the fluid buildup. Could ... Read More
Matthew, the ‘wee marvel’: One of the first ALD gene therapy recipients
When the Elliott brothers are asked how many siblings they have, they always say, “four.” It’s a way of honoring the memory of their eldest brother, Marc, who died in 2010 from adrenoleukodystrophy (ALD). ALD is a degenerative condition that destroys the protective sheath surrounding the brain’s neurons. Gradually, as the disease progresses, symptoms grow ... Read More
A potential danger of CRISPR gene editing — and why base editing may be safer
Gene therapy using CRISPR/Cas9 gene editing is currently in clinical trials around the world for a variety of diseases, including various cancers, blood disorders, and metabolic disorders. It works by making cuts in DNA — both strands of the double helix — to insert or remove genes. But CRISPR carries a potential, previously undiscovered danger, ... Read More
Sickle cell disease, gene therapy, and blood cancers: Mysteries remain
Gene therapy trials for sickle cell disease have been showing great promise, even offering hope of a cure. But in early 2021, the trials ground to a halt after reports of blood malignancies in two people in a trial sponsored by bluebird bio. Investigations later concluded that the gene therapy delivery vectors were likely not ... Read More
Global services: Coordinating care for international families
In most years, more than 2,500 families living outside of the United States seek care at Boston Children’s Hospital. To help guide the process, the Global Services team — a group of medical and administrative professionals — manages all the details. Their mission is to help coordinate care between families, medical professionals in their home ... Read More
Nurses Week 2021: Integrating new therapies into nursing practice and patient care delivery
A revolution in pharmacological gene therapy is underway, as indicated by a significant acceleration in the creation of new therapies to treat genetic disorders at the molecular level. Boston Children’s Hospital Nursing and extended team members, in collaboration with hospital researchers and scientists, biotech, and biopharma partners, have developed a set of specific processes to ... Read More
Teaming up to fast track a novel gene therapy for Diamond-Blackfan anemia
Looking at Lindsay Krieg, it’s impossible to tell she has spent her entire 29 years in an out of hospitals managing a rare blood disorder. “It’s routine for me,” she says. “It’s all I’ve ever known.” Diamond-Blackfan anemia (DBA) prevents Lindsay’s bone marrow from producing the red blood cells essential for carrying oxygen from her ... Read More