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.
What is really interesting today, however, is the gradual increase in the number of centers that are specifically dedicated to clinical services for rare disease patients and research into the diagnosis and management of definable groups of rare disorders.
The most recent such center to come to my attention is a Rare Tumor Center at the Greenville Health System’s Cancer Institute in Greenville, South Carolina. In announcing the initial development of this new center, Dr. Larry Gluck, the medical director of the GHS Cancer Institute stated that, “We’re creating something in Greenville, S.C., which only exists as pieces elsewhere.” And he’s right, although NORD had already been in early discussions with the National Comprehensive Cancer Network (NCCN) about issues related to awareness and management of truly rare forms of cancer. Many cancers are “rare” in the sense that they meet the formal definition of an “orphan” disorder specified in the Orphan Drug Act, but there is far less knowledge and awareness about the management of the truly rare forms of cancer that may affect just a couple of hundred people (or less) around the world at any one time.
Of course many in the rare disease community will be well aware of the Undiagnosed Diseases Program at the National Institutes of Health Clinical Center under the direction of Dr. William Gahl, initiated in 2008. By just 2011 Dr. Gahl and his colleagues had published – in the New England Journal of Medicine — the first report of a newly characterized rare disorder to come out of the Undiagnosed Diseases Program: “arterial calcification due to CD73 deficiency” or ACDC.
You may also be aware of the commitment to expand this program to additional centers around the country, initially announced in 2012. But there are other centers with a very specific focus on rare disorders.
Also in 2008, up in Boston, the Manton Center for Orphan Disease Research was started at Boston Children’s Hospital was also founded in 2008, and the University of Notre Dame introduced a Center for Rare and Neglected Diseases in Notre Dame, IN. The University of Pennsylvania founded the Center for Orphan Disease Research and Therapy in 2012, within the Perelman School of Medicine. And since 2005 there has been a Center for Orphan Drug Research at the University of Minnesota College of Pharmacy in Minneapolis, MN.
This is by no means to downplay the roles of other centers with serious commitments to the diagnosis and management of rare disorders, especially in institutions with a serious commitment to the study of genetic disorders among children (e.g., the Children’s National Health System in Washington, DC). Children’s National is a designated recipient of an NIH Clinical and Translational Science Award (CTSA). Many of the other 60+ high profile centers that have received CTSA awards also include a rare disease component as a key element within their clinical and research objectives.
There are also centers that are dedicated to other, non-clinical aspects of rare disease research, such as the Center for Rare Disease Therapies at the Keck Graduate Institute in Claremont, CA, which focuses not as a medical or scientific center, but more like a not-for-profit “think tank” in addressing the many problems caused by and arising from all rare diseases.
The development and gradual proliferation of such focused centers in the USA and elsewhere around the world is a sure signal of the progress we are making in bringing rare diseases, their diagnosis, their treatment, and research into better treatments out of the limelight and toward center stage. Would we like to see it happening faster? Sure we would … but we’re still glad to see it happening.
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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