Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
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Researchers recently reported the rare case of a 69-year-old Japanese man with paroxysmal atrial fribrillation (PAF) — occasional periods of an irregular, very fast heart rate — who developed hyperkalemia (high potassium levels in the blood) possibly due to cold agglutinin disease (CAD) after undergoing cryoballoon ablation…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
A recent case report alerts clinicians to the fact that cold agglutinin disease (CAD) can arise as a complication of Pneumococcal vaccination. This is the first documented case of an adult who developed CAD associated with a specific self-reactive antibody (anti-Pr) following pneumococcal vaccination. The study, “Anti-Pr…
Removal of white cells (a type of immune cell) from blood before a transfusion and early surgical removal of the spleen may help protect patients with a genetic blood disease from developing autoimmune hemolytic anemia (AIHA), a condition where red blood cells are attacked by a person’s own immune…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
A case of hemolytic anemia and high bilirubin in blood may mean that infection with Epstein-Barr virus (EBV) — the most common one leading to mononucleosis — can cause cold agglutinin disease, even in the absence of typical symptoms of infection, a study suggests. In…
A rare type of cancer called histiocytic sarcoma may trigger the development of cold agglutinin hemolytic anemia, a recent case suggests. This malignant cancer, which arises from the transformation of some immune cells present in the connective tissue, should be considered as a secondary cause of cold agglutinin hemolytic…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
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