US/World

Orphan Disease Research From NIH To Help People With The World’s Rarest Disorders

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Rare diseases like muscular dystrophy will be further funded by the NIH, since nearly all "orphan" diseases don't have cures or even proper treatments. Photo courtesy of Shutterstock

We all know about Ebola, HIV/AIDS, cancer, and malaria by now; but there’s a lot of people out there who suffer from rare diseases — also known as “orphan” disorders — which we don’t hear about quite often. Possibly because they’re… well, rare.

Some 30 million Americans suffer from a rare disorder, often lacking information, research, and treatment for the condition that only affect them and a handful of others. Recently, however, the National Institutes of Health (NIH) has announced it's aiming to do something about “orphan” diseases that leave people feeling alone and helpless. According to a press release, the NIH will award about $29 million to boost the Rare Diseases Clinical Research Network (RDCRN), led by the NIH’s National Center for Advancing Translational Sciences (NCATS).

“NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases,” Dr. Christopher Austin, NCATS’ director, stated in the press release. “The RDCRN consortia provide a robust data source that enables scientists to better understand and share these commonalities, ultimately allowing us to accelerate the development of new approaches for diagnosing and treating rare diseases.”

You might not have ever heard of orphan diseases, but there have been attempts to raise awareness about them in the past, such as Europe and Canada’s “Rare Disease Day,” which began in 2008 as an annual reminder to raise awareness. There’s even a National Organization for Rare Diseases (NORD), which focuses primarily on helping orphan disease patients.

According to NORD, a disease that affects less than 200,000 Americans is considered “rare.” Most rare diseases are genetic and affect only a handful of people. Even though genes play the biggest role, the environment can also have an impact on people who develop rare diseases, NCATS notes. Some examples include cystic fibrosis, which affects the respiratory and digestive systems; Huntington’s diseases, and muscular dystrophies. “Researchers have made considerable progress in recent years in figuring out ways to diagnose, treat and even prevent a variety of rare disorders,” NCATS writes on its website. “Still, much more remains to be done because there are no treatments for the vast majority of rare diseases.”

The NIH’s funding will create six new consortia at RDCRN, stretched across several different universities that will lead research. These include areas of study for bone diseases, neurological diseases, food allergy diseases, and lung diseases. “The real strength of the collaboration among RDCRN consortia is the power to obtain high-quality data,” Pamela McInnes, acting director of the NCATS Office of Rare Diseaes Research, said in the press release. “These data form an important base to better define patient populations, attract industry partners, share information on best practices and advance treatment options for the rare disease patient community.”

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