Archive for anemia
A drug treatment for telomere diseases?
For years, Donna Martin carried a piece of scrap paper with the words “dyskeratosis congenita,” which she believed might explain her son Brad’s sudden, mysterious affliction. A routine blood test had revealed Brad’s bone marrow was failing, unable to keep up with his need for healthy blood cells. His condition, Donna knew, would worsen over ... Read More
A potential Diamond-Blackfan anemia treatment swims into view
Zebrafish, besides being popular in aquariums, make good stand-ins for studying human diseases. They share about 70 percent of their genes with humans, and can be studied at a mass scale, enabling scientists to test hundreds, even thousands of drugs at a time simply by adding the drug to their water. One such test came ... Read More
Following clinical trial, boy with Fanconi anemia transfusion free
Seven-year-old Ervis of Chicago, Illinois, is a model student with a positive attitude and a megawatt smile. His mom Ofelia calls him “un encantador” — “a charmer,” but life as Ervis knows it is not exactly charmed. Born with Fanconi anemia (FA), a rare hereditary blood disorder that can lead to bone marrow failure and cancer, ... Read More
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
Stem cell workaround cracks open new leads in Diamond Blackfan anemia
Diamond Blackfan anemia (DBA) has long been a disease waiting for a cure. First described in 1938 by Louis K. Diamond, MD, of Boston Children’s Hospital and his mentor, Kenneth Blackfan, MD, the rare, severe blood disorder prevents the bone marrow from making enough red blood cells. It’s been linked to mutations affecting a variety of ... Read More
Avoiding the needle: Engineering blood vessels to secrete drugs
People who rely on protein-based drugs often have to endure IV hookups or frequent injections, sometimes several times a week. And protein drugs – like Factor VIII and Factor IX for patients with hemophilia, alpha interferon for hepatitis C, interferon beta for multiple sclerosis — are very expensive. What if they could be made by people’s own ... Read More