A Needle in a Haystack

Rare Disease Day Highlights the Need for More Research and Better Diagnoses

University of New Mexico physicians are no strangers to caring for patients with rare diseases.

In her career as a UNM pediatric neurologist, Leslie Morrison, MD, studied inherited cerebral cavernous malformations (CCM), a rare and dangerous brain condition passed down for centuries among New Mexico Hispanic families.

Ioannis Kalampokis, MD, PhD, sees 400 patients in his UNM pediatric rheumatology clinic who present with a diverse assortment of baffling (and often life-threatening) autoimmune and inflammatory symptoms.

With February 29 - Rare Disease Day - just around the corner, UNM data scientist Tudor Oprea, MD, PhD, wants to shine a spotlight on these and other rare diseases and the need to better allocate research dollars to find cures.

Oprea, professor and chief of the Translational Informatics Division in The University of New Mexico's Department of Internal Medicine, is a leading researcher in the Illuminating the Druggable Genome project, funded by the National Institutes of Health.

There is no agreed-upon definition of what makes a disease "rare." But while a particular symptom might strike just one person in 100,000, there are so many different types of disease that many people are actually affected in one form or another. "It's rare at the individual level," Oprea observes. "It's not rare when you take them together."

It's estimated that 10 percent of the world's population - or more than 700 million people - might be experiencing a rare disease.

Last fall, in an attempt to clarify things, Oprea and international colleagues published research raising the estimated number of rare diseases from around 7,000 to more than 10,000. But he concedes that the lack of information is frustrating. "The fact that we don't even have a definition is mind-boggling," he says.

Albuquerque resident Andra Stratton is president and co-founder of Lipodystrophy United, an international foundation for people with an inherited condition that affects roughly one person in 20,000.

Lipodystrophy causes people to experience an uncontrolled loss of fat tissue - especially under the skin. This upsets the patient's metabolism and causes fat to accumulate in the blood and organs, with life-threatening complications.

Stratton, who was diagnosed 10 years ago, says the disease is significantly underdiagnosed and its symptoms are often mistaken for other conditions. The diagnosis led her to change her career path. She now works for the Chan Zuckerberg Initiative, which recently allocated $13.5 million to 30 different groups as part of its Rare as One Project, and she has worked with Oprea to raise awareness.

Stratton wants to educate health care providers to more readily diagnose rare diseases and, where possible, initiated early childhood screening, which improves the chances for successful intervention in some cases.

"It doesn't really matter what rare disease you have," Stratton says. "There's so many commonalities in the challenges."

Rare Disease Day - which always falls on the last day of February - was founded by EURORDIS, which bills itself as "the voice of rare disease patients in Europe," is a is a non-governmental patient-driven alliance representing 894 rare disease patient organizations in 72 countries.

In the U.S., the National Organization for Rare Disorders estimates that 25 to 30 million Americans have a rare disease.

Oprea hopes that continual focus on rare disease will help raise awareness in New Mexico of the need for more research and greater patient engagement.

"In addition to CCM and other well-known diseases, there are others that no one is aware of," he says. "The problem is, it only takes one to be rare. How do we increase awareness in the medical community that rare diseases do exist and take advantage of the digital era in which patients are connected?"

Oprea believes digital platforms offer an easy way for patients living with rare diseases to find one another and share their experiences. "I want to encourage that kind of interconnectivity," he says. "I'm saying, 'Connect the dots for all the diseases, for all the New Mexicans that might be affected.'"