Trade Group Study: Hundreds of Rare Disease Drugs in Development

According to a new report released last month by the trade group Pharmaceutical Research and Manufacturers of America (PhRMA), the biopharmaceutical pipeline is innovative and robust, with a high percentage of potential first-in-class medicines (meaning a new treatment where nothing currently exists) targeting diseases with limited treatment options. In addition to identifying medicines in development for conditions and diseases such as septic shock, ovarian cancer, sickle cell disease, and Lou Gehrig’s disease (amyotrophic lateral sclerosis), which haven’t had any new product approvals in the last ten years, the report offers positive news for the rare disease community: one third of the products currently in clinical development have a rare disease designation by the U.S. Food and Drug Administration (FDA).


Scientists Correct Sickle Cell Disease in Adult Mice

National Institutes of Health (NIH)-funded scientists have corrected sickle cell disease in adult laboratory mice by activating production of a special blood component normally produced before, but not after, birth.

Sickle cell disease is a recessive genetic disorder caused by a single base mutation in the gene for hemoglobin, beta locus (HBB). Hemoglobin is responsible for transporting oxygen throughout the body. People living with sickle cell disease have two copies of an altered gene that produces sickle hemoglobin instead of normal adult hemoglobin. Sickle hemoglobin changes shape after releasing its oxygen, causing the red blood cell to become stiff, misshapen and sticky, and slowing blood flow to tissues. This process damages organs and causes pain.

Normal hemoglobin vs sickle cell