Stephen C. Groft, PharmD, the Director of the NIH Office of Rare Diseases Research since its inception, will retire effective February 8. NORD honored Dr. Groft at our 30th anniversary celebration in May 2013. We reprint here the text from our gala program book. read more >
Posted at September 24, 2013 9:14 pm by Marsha Lanes
September is Newborn Screening Awareness Month and this year marks 50 years since the beginning of this life-changing public health program. Wilson and Jungner developed what is considered to be the gold standard for selection of conditions suitable for screening, which includes the ability to detect the condition at an early stage and the availability of an effective treatment. However, the ethical principles that have guided newborn screening for the past 50 years have been increasingly challenged as new technologies have emerged to screen for more conditions. read more >
Posted at September 4, 2013 3:53 pm by Mary Dunkle
Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an accurate diagnosis after symptoms first appear. read more >
One of my favorite moments at NORD’s recent 30th Anniversary celebration was seeing Abbey Meyers and Congressman Henry Waxman reconnect. The two played leading roles in the drama that resulted in the Orphan Drug Act of 1983. Both went on to provide key leadership on related issues — Abbey as the president of NORD for its first 25 years and Rep. Waxman in Congress.
I represented NORD at the White House this morning at an event where President Obama announced the launch of a “Brain Initiative” to help researchers find new ways to treat and cure brain disorders. The initiative includes: read more >