Archive for gene therapy
The journey to a treatment for hereditary spastic paraplegia
In 2016, Darius Ebrahimi-Fakhari, MD, PhD, a neurology fellow at Boston Children’s Hospital, met two little girls with spasticity and decreased muscle tone in their legs, which affected their walking. Both girls, Robbie Edwards and Molly Duffy, had been diagnosed with hereditary spastic paraplegia (HSP), a group of more than 80 genetic conditions. Untreated, the ... Read More about The journey to a treatment for hereditary spastic paraplegia
Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
A lot of things excite 10-year-old Aiden Flaherty: drums, soccer, skiing, video games. But lately, he’s also found joy in a quieter, less active pursuit: watching leaves move on trees. He loves being outdoors during the daytime and taking in all that nature offers. It’s something he only recently could do after receiving retinal gene ... Read More about Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
Sickle cell gene therapy and boosting fetal hemoglobin: A 75-year history
Ed. Note: This post updates an earlier post from 2018. In a landmark decision today, the Food and Drug Administration (FDA) approved two gene therapies for sickle cell disease. One of them, Casgevy, has deep scientific roots at Boston Children’s Hospital — and is also the first therapy using CRISPR gene editing to gain FDA ... Read More about Sickle cell gene therapy and boosting fetal hemoglobin: A 75-year history
Here’s how genetic vision testing can help your family
At least 600 of the roughly 20,000 genes in the human body are needed for normal eyesight. Changes in those genes can lead to many eye conditions, including glaucoma, cataracts, and inherited retinal disorders. If your child has an inherited retinal disorder, they might benefit from genetic testing. It can help determine a diagnosis and how their ... Read More about Here’s how genetic vision testing can help your family
Making immunotherapy safe for AML
Acute myeloid leukemia (AML), the second most common leukemia in children, is hard to treat and has a five-year survival rate of just 65 to 70 percent, according to the American Cancer Society. While immunotherapies like monoclonal antibodies or CAR T-cell therapy are effective for certain blood cancers, they have not been possible in AML ... Read More about Making immunotherapy safe for AML
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 about Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
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 about Making ionocytes: A step toward cell or gene therapy for cystic fibrosis
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 about Making history: Gene therapy for CCALD gives Conner a second chance
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 about Could gene therapy relieve post-hemorrhagic hydrocephalus?
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 about Matthew, the ‘wee marvel’: One of the first ALD gene therapy recipients