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
Mouse model could lead to new treatments for endometriosis pain
There are few effective long-term treatments for endometriosis; even fewer options for relieving the often severe pain associated with the condition, which involves tissue overgrowth outside of the uterus. As a first step toward identifying new pain treatments, researchers in the laboratory of Michael Rogers, PhD, in the Vascular Biology Program at Boston Children’s Hospital, ... Read More
Mouse/human model provides new way to study neuroblastoma
Neuroblastoma is a rare childhood cancer affecting about 800 children each year in the United States. Because of its unusual behavior — tumors in infants often disappear spontaneously without treatment while it can be aggressive and fatal in toddlers — studying the disease has been complicated. That may change with a new research tool: a ... Read More
S1P and its receptor: New approaches to cancer?
In 1998, when Timothy Hla, PhD, and his colleagues identified and cloned the receptor for sphingosine-1-phosphate (S1P), it generated a lot of excitement. S1P, a lipid originally discovered in the 1960s, was known to play various roles in the body and in disease. But it wasn’t thought that lipids could have receptors, and it wasn’t ... 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
Child access prevention laws spare gun deaths in children
Child access prevention (CAP) laws are on the books in half of U.S. states. They are meant to protect children from accessing firearms by holding a parent or guardian responsible for the actions or potential actions a child takes with a firearm. New research from Boston Children’s Hospital finds that U.S. states with CAP laws ... Read More