HUNTSVILLE, Ala. — In the United States, a disease is considered “rare” if it affects fewer than 200,000 individuals. More than 7,000 diseases fit the bill, and all told, between 25 and 30 million Americans are living with a rare disease. The majority of these diseases are genetic.
Rare Disease Day is an international event held on the last day of February to raise awareness about the impact of rare diseases on patients’ lives and to emphasize the need for research. HudsonAlpha is just one of many companies whose focus is on finding a cure.
"While many folks in the population may not think about rare disease on a day-to-day basis, it's every day for us," said Megan Cochran, Director of Clinical Education at HudsonAlpha. "We really view this as an opportunity for the rest of the world to kind of come into our world and think about patients living with these rare conditions."
HudsonAlpha is continuing its research into rare diseases by looking at the connection between those diseases and genetics. "Humans have about 20,000 genes and at this point, maybe a quarter or so of them have actually been connected with a disease," Cochran said. "A lot of the work that goes on at HudsonAlpha and in other places is trying to take clusters of people who maybe have a set of symptoms that seem similar and trying to figure out what do they have in common, genetically."
This year, the February 28 event falls between two important milestone anniversaries for the U.S. rare disease community:
- The 40th anniversary of Congress’ passage of the Orphan Drug Act on January 4 — the landmark 1983 legislation to incentivize the development of therapies for rare diseases. The Orphan Drug Act was born out of the advocacy of rare disease champions who raised their collective voice for change.
- The 40th anniversary of the National Organization of Rare Diseases (NORD) on May 4, which was born out of the passage of the Orphan Drug Act and has been bringing together advocates during the four decades since to influence change.
While the term "rare" can bring up several connotations, the idea that all rare diseases are genetically linked is simply not true. "We do think about three quarters of rare diseases are genetic in origin. Some people kind of use them interchangeably, but something can absolutely be a rare disease without being genetic," Cochran said.
The word does also not mean "terminal."
"Unfortunately, some of the rare diseases that we think about are life-limiting for patients, but for many of them it's a quality-of-life issue or impacts certain areas of their health that people can absolutely live long and productive lives with," Cochran said. "It's not just about preventing early death. It's about really increasing quality of life and maximizing all that someone gets to do."
To raise more awareness on pediatric research, HudsonAlpha is hosting the annual 12th Annual Double Helix Dash 5K and 1-mile race on April 4. This community-favorite race will start at 5:30 p.m. at 601 Genome Way and wind through the scenic double-helix pathway in HudsonAlpha’s McMillian Park.