February 29th occurs once out of every 1461 days. It makes sense that we celebrate Rare Disease Day on the rarest date on our calendar. There are many diseases and disorders which occur at a significantly lower rate than 1 in 1461, while yet having a great impact on lives of those afflicted. 2016 marks the ninth year that the international rare disease community celebrates Rare Disease Day, an event started to raise awareness for these diseases and disorders.
In the USA, a rare disease is one which affects fewer than 200,000 Americans at any given time. Rare diseases can be not only difficult to treat, but to diagnose. The over 6,000 identified rare diseases include a broad array of disorders and symptoms that vary not only between diseases but between patients suffering from the same disease. Common symptoms can mask underlying rare diseases and lead to misdiagnosis or delayed treatment. For most of these diseases, there are no effective cures available.
Emory researchers have developed several currently available technologies addressing rare and orphan diseases including fragile X syndrome, diabetes insipidus and more. One of the most notable rare disease treatments was developed by a research team led by Emory hematologist Pete Lollar. Obizur is a modified form of Factor VIII for the treatment of acquired hemophilia A and was approved by the FDA in 2014. Obizur is currently available in the US and has received approval in both Canada and Europe.
Emory University continues to fight rare and orphan diseases at home. The Emory Special Diagnostic Services (ESDS) is an Emory Clinic practice dedicated to evaluating patients with significant undiagnosed symptoms despite prior medical evaluation. Emory Genetics Laboratory provides high-complexity molecular, biochemical and cytogenetic testing for rare and common genetic diseases and disorders. Emory University and Eurofins Scientific’s joint venture, EGL Genetic Diagnostics, expands the reach of EGL to an international patient community.
There are many rare disease resources available to assist and educate patients and the public. You can find more information at the National Organization for Rare Disorders and the National Institute of Health’s Genetic and Rare Disease Information Center. To learn more about Rare Disease Day, visit http://www.rarediseaseday.org/.
Read our Success Story on Obizur here.
Additional rare disease technologies available from Emory University include:
Coagulation Factor VIII for the Treatment of Hemophilia A
Compounds for the Treatment of Fragile X Syndrome and Methods of Screening
Prevention and Treatment of Familial Adenomatous Polyposis (FAP)
Repurposed Drug for the Treatment of Nephrogenic Diabetes Insipidous