Archive for gene therapy
Hemophilia A gene therapy paves the way for a life with less pain
Matthew Harrington, a 35-year-old oil-field worker from Douglas, Wyoming, knows pain. Born with hemophilia A, a rare condition in which the blood doesn’t clot properly, Matt’s body — both inside and outside — has difficulty stopping bleeding. He has what’s considered the most severe form of hemophilia, characterized by frequent bleeding episodes, particularly in the ... Read More
Gene therapy with a new base editing technique restores hearing in mice
Using a new genetic engineering technique, known as base editing, researchers from Boston Children’s Hospital and the Broad Institute of MIT and Harvard, have restored hearing in mice with a known recessive genetic mutation. Key takeaways· This is the first example of repairing a recessive gene mutation.· Repairing a single mutation in the Tmc1 gene restored partial hearing in ... Read More
Boston Children’s nurses: Setting the standard for innovation
As clinicians at Boston Children’s Hospital continue to pioneer new therapies for both kids and adults, nurses play a critical role in bringing those treatments to families. To make sure groundbreaking treatments like gene therapies are integrated into both nursing practice and patient care, Boston Children’s nurses have developed a series of processes. When ... Read More
Gene therapy reverses heart failure in mouse model of Barth syndrome
Barth syndrome is a rare metabolic disease caused by mutation of a gene called tafazzin or TAZ. It can cause life-threatening heart failure and also weakens the skeletal muscles, undercuts the immune response, and impairs overall growth. Because Barth syndrome is X-linked, it almost always occurs in boys. There is no cure or specific treatment. ... Read More
Long-term hemophilia treatment could lie in patients’ own cells
Children (and adults) with hemophilia are slow to form blood clots, so are at constant risk for uncontrolled bleeding. Even when the skin isn’t broken, a fall or a simple toe stub can become a serious medical issue: internal bleeding cause permanent damage to muscles and joints. While regularly replacing the missing or malfunctioning clotting ... Read More
Good early results with gene therapy for rare immune deficiency
Brenden Whittaker, a college student in Ohio, has been caught off guard by his good health. Since he was young, a rare immune deficiency known as chronic granulomatous disease (CGD) had left him vulnerable to life-threatening infections. He was used to going in and out of the hospital, and then hooking up to an IV ... Read More
Bone marrow-on-a-chip provides new research directions for Shwachman-Diamond syndrome
A new research tool that mimics the behavior of diseased bone marrow provides a new strategy for understanding the bone marrow disease, Shwachman-Diamond syndrome (SDS), and hopefully, developing new treatments. With SDS, bone marrow fails to produce blood cells normally, leading to bone marrow failure and an increased risk of leukemia. In a research paper ... Read More
Gene therapy to boost fetal hemoglobin continues to do well in sickle cell trial
A pilot gene therapy treatment for sickle cell disease, restoring patients’ ability to make fetal hemoglobin, has produced good results in the first three patients to receive it. Investigators at Boston Children’s Hospital reported the findings of their ongoing clinical trial this week at the American Society of Hematology (ASH) annual meeting. The three adult ... Read More
Sofie’s story: A new gene therapy treatment for SMA
Sofie Petrovická sits up in the exam room, smiling and laughing with her physical therapist, Elizabeth Maczek. Though she’s just over a year old, sitting on her own is no minor feat for Sofie — in fact, it’s nothing short of a miracle. Sofie was just 3 months old when she was diagnosed with spinal ... Read More
Novel CRISPR system could halt growth of triple-negative breast cancer
Triple-negative breast cancer (TNBC), lacking estrogen, progesterone and HER2 receptors, has the highest mortality rate of all breast cancers. It more frequently strikes women under age 50, African American women, and women carrying a BRCA1 gene mutation. The highly aggressive, frequently metastatic cancer is in urgent need of more effective targeted therapeutics. A new tumor-targeted ... Read More