There have long been clinicians and researchers with specific interests in rare and “orphan” disorders.
One of the first such clinicians who some readers may know of was Sir Archibald Garrod. Garrod was a British physician who first characterized alkaptonuria or “black urine disease” in 1902. What is more, he identified this disorder as being an inborn error of metabolism (i.e., a genetic disorder). Garrod’s early studies in this area led to the development of a whole new branch of medicine. read more >
NORD has submitted the following Letter to the Editor of the Journal of the American Medical Association (JAMA):
The recent study evaluating the evidence supporting FDA approval of novel therapeutic agents has generated debate about FDA exercise of flexibility and judgment in approving new drugs. FDA Commissioner Margaret Hamburg, MD, wrote a blog explaining why FDA supports a flexible approach to drug development.  read more >
In the fall of 2012, my granddaughter Haley, who is 7 years old and has a rare condition known as CDKL5, went off to school fulltime. One morning, as her sister Emily, who is 3 years old and has a different rare disease — short bowel syndrome — was still sleeping, I sat on the sofa with a cup of coffee watching Morning Joe and realized that, for the first time in years, I was relaxing at that time of day. read more >
NORD recently sent a letter to US Department of Health and Human Services Secretary Kathleen Sebelius expressing NORD’s support for patient assistance programs for people enrolled in qualified health plans through health insurance exchanges. read more >
It can be disheartening for rare disease patients to consider the problem of diagnostic delay. As NORD’s recent informal survey revealed, more than half of us spend three years or more looking for diagnosis and treatment. Once we find it, it’s natural to want to put the whole problem behind us. read more >
RareDisease Dialog is the official blog for the National Organization for Rare Disorders (NORD). NORD’s staff and friends will share information of interest to the entire rare disease community.
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