The Grapevine

Rare Disease Day 2016: How Researchers Treat Rare Diseases Differently

Rare Diseases
Rare diseases affect millions of Americans, yet only a few thousand have hope of being treated. Photo courtesy of Pixacy, public domain

Being diagnosed with any disease can be difficult, but imagine you're one of only a few hundred people who share the same diagnosis. National Rare Disease Day, this year held on Feb. 29, recognizes the 30 million Americans who suffer from nearly 7,000 different rare diseases, each with their own unique symptoms, treatments, and outcomes. Approximately 50 percent of those with a rare disease are children, and 35 percent of those diagnosed will die within the first year of their life. Another 30 percent of children diagnosed with a rare disease will not make it to their fifth birthday.

A disease that affects fewer than 200,000 Americans is considered a medically rare condition, however, many rare diseases are known to afflict far fewer people. For many of these patients, the arrival of strange symptoms is often difficult for doctors to understand. Individuals may have to undergo genetic testing in order to investigate any mutations they suspect and eventually narrow down the cause. But this could take months or even years.

Most rare diseases have a genetic root and affect only a few hundred people. Because of the small patient population, doctors and researchers have a very limited database from which to search for signs and symptoms that match their particular patient. Without large numbers of sufferers, studies are limited and stunted in their potential to teach doctors what works in treatment.

Rare diseases are often far more complex than common conditions, making them exceedingly difficult to diagnosis. While common conditions have go-to treatments that have been tested on large populations, with a textbook step-by-step process to treatment, rare diseases leave their victims with more questions than answers. Doctors often turn to experimental treatment methods — a roll-of-the-dice approach. 

In an effort to improve the lives of those suffering from rare diseases, the National Institutes of Health announced in 2014 its plan to allocate approximately $29 million toward improving the Rare Diseases Clinical Research Network, a sector led by the NIH’s National Center for Advancing Translational Sciences (NCATS). A portion of the funding will be used to create six new sectors with research efforts divided among different universities. Research will focus on bone diseases, food allergy diseases, and lung diseases, and three areas of study for neurological diseases.  

“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.”

Currently, there are 425 new medicines and vaccines in the process of being developed to treat rare diseases. One in roughly 3,000 rare disease treatments, also called “orphan drugs,” are designated for children. However, only five percent of rare diseases have a viable treatment, changing the way doctors treat rare disease diagnoses.

The main priority is to log genetic data, symptoms, and prognosis in order to build a larger database. Sequencing their genomes allows doctors to provide patients with improvements in self care and personalized medicine by helping them understand how their disease works inside their bodies. Patients want answers, and doctors are seen as authoritative figures who will know the answers. However, the rarity of their diseases means doctors are often short on answers, compounding patients' feelings of isolation and helplessness.

“Don’t tell me how you’re going to treat kidney cancer. Tell me how you’re going to treat my kidney cancer,” said Dr. Alexander Parker, the associate director for Mayo Clinic’s Center for Individualized Medicine. “That’s what we all want — individualized answers to our questions. On the other side, that’s what physicians have always wanted to do, too. They want to get answers tailored specific to the patient sitting in front of them.”

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