A “CRISPR” view of Sturge-Weber syndrome is coming into focus
November 6, 2017
Three-dimensional modeling and CRISPR-Cas9 gene editing technology are giving scientists a new view into Sturge-Weber syndrome, a rare congenital disorder that causes small blood vessels, called capillaries, to be malformed. These capillary malformations can cause port wine birthmarks on the face and neck, and in some cases, abnormal vasculature in the brain that can spark seizures. Last year, a Boston Children’s Hospital research team — led by Joyce Bischoff, PhD, of the Vascular Biology Program — discovered that the genetic mutation responsible for Sturge-Weber syndrome dwells in endothelial cells lining the affected capillaries in the brain. Continue Reading
Medical treatment may prevent, alleviate mitral valve damage after a heart attack
August 28, 2017
A research team led by investigators from Massachusetts General Hospital (MGH) and collaborators has shown, for the first time, that it may be possible to nonsurgically treat or even prevent the damage to a major heart valve that often occurs after a heart attack. In their report published in the Journal of the American College of Cardiology, the investigators – including co-senior authors at Boston Children’s Hospital and Brigham and Women’s Hospital – describe how treatment with the antihypertension drug losartan reduced mitral valve damage in an animal model of heart attack. This sort of damage typically occurs in 25 percent of heart attack patients and can lead to heart failure and an increased risk of death. Continue Reading
Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation
March 1, 2017
A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations. Continue Reading