Archive for hematology
After 80 years, genetic causes of Diamond-Blackfan anemia come into view
In 1938, Louis K. Diamond, MD, and Kenneth Blackfan, MD, at Boston Children’s Hospital described a severe congenital anemia that they termed “hypoplastic” (literally, “underdeveloped”) because of the bone marrow’s inability to produce mature, functioning red blood cells. Eighty years later, the multiple genetic origins of this highly rare disease, now known as Diamond-Blackfan anemia, or ... Read More about After 80 years, genetic causes of Diamond-Blackfan anemia come into view
Sickle cell gene therapy to boost fetal hemoglobin: A 70-year timeline of discovery
Boston Children’s Hospital is now enrolling patients age 3 to 35 in a clinical trial of gene therapy for sickle cell disease. Based on technology developed in its own labs, it differs from other gene therapy approaches by having a two-pronged action. It represses production of the mutated beta hemoglobin that causes red blood cells to ... Read More about Sickle cell gene therapy to boost fetal hemoglobin: A 70-year timeline of discovery
Medical milestone: Making blood stem cells in the lab
Pluripotent stem cells can make virtually every cell type in the body. But until now, one type has remained elusive: blood stem cells, the source of our entire complement of blood cells. Since human embryonic stem cells (ES cells) were isolated in 1998, scientists have tried to get them to make blood stem cells. In ... Read More about Medical milestone: Making blood stem cells in the lab
Wine used to toast CGD gene therapy trial linked to decades-long scientific journey
When Brenden Whittaker of Columbus, Ohio, the first patient treated with gene therapy for chronic granulomatous disease (CGD), showed successful engraftment last winter, the gene therapy team lifted glasses for a celebratory toast. The wine they sipped was no ordinary wine. The 2012 Bordeaux blend came from an award-winning California vineyard owned and operated by Robert ... Read More about Wine used to toast CGD gene therapy trial linked to decades-long scientific journey