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.
The platelet – a crucial cog in our blood’s clotting machinery – is in high demand. Trauma, chemotherapy, and surgery patients often need platelet transfusions to keep their blood working properly. So too do people with genetic disorders like Wiskott-Aldrich syndrome that prevent them from producing enough platelets on their own and cause thrombocytopenia.
However, platelets are in short supply compared to other blood products, in part due to their short shelf life.
“Platelets only last in the body for about 10 days at a time,” explains Jonathan Thon, a fellow in the laboratory of Joe Italiano, a member of Children’s Vascular Biology Program. “In a blood bank, red blood cells can be stored in a refrigerator for 42 days, and plasma can be frozen for years. But platelets need to be stored at room temperature, and only for a short time for fear of bacterial contamination.” Which means that few platelets are available for those who need them – a situation that screams for a means of artificial platelet production. …