Dr. Stephen Groft of NIH Visits Global Genes Project In Advance of Rare Disease Day 2011

Monday, Feb. 28, is Rare Disease Day 2011.  Here is a great story from the Orange County Register, which is helping to raise awareness for rare diseases and our efforts to spread awareness through our blue denim jeans ribbon and “Wear That You Care” campaign.

Local advocates looking to kick-start research to help patients with rare diseases got a boost Wednesday afternoon when an official with the National Institutes of Health stopped by to talk.

Dr. Stephen Groft, director of the NIH’s Office of Rare Diseases Research, visited with a Dana Point nonprofit group aimed at building a community for people with rare diseases. A rare disease is defined as one that affects fewer than 200,000 Americans.

Groft informally talked with people who went to meet him at an office in La Plaza shopping center off Pacific Coast Highway that houses the RARE Project (Rare Disease Advocacy Research Education). As he did, children created blue denim ribbons similar to the red ones for AIDS awareness or the pink ones for breast-cancer awareness.

“It’s symbolic that the NIH is coming to speak to this organization. It shows they recognize the power it has,” said Beth Anne Baber, a San Diego cancer researcher and mother of a child with a rare pediatric cancer.

Baber spent hours talking to Groft about what can be done to make advances in rare-disease research.

Monday is Rare Disease Day, and the RARE Project plans to present a 3-foot denim ribbon to NIH Director Francis Collins at a ceremony at NIH headquarters outside Washington, D.C.

The NIH Office of Rare Diseases Research, which stimulates research and acts as an information center, has been around since 1993, but rare-disease research has taken a step into a faster lane in the past five years. Groft attributes that to a greater sense of collaboration among patients groups, researchers, pharmaceutical companies and government. In 2009, NIH dedicated $24 million to pave the way for new treatments for rare diseases. Soon after, the U.S. Food and Drug Administration began providing more grants to encourage researchers to produce more rare-disease treatments.

But Groft’s office is one of many NIH branches. Of the NIH’s $31 billion budget, the Office of Rare Diseases Research gets about $18 million a year. Patients advocates say more money is needed for research, but it can be tough to persuade the government or private pharmaceutical companies to spend money on products when a small number of people have a particular disease. It costs about a billion dollars for a company to develop a new drug.

Groft said he often plays the role of myth-breaker when he talks to the pharmaceutical and medical communities. Many think there is little information about rare diseases and that research is scarce. Groft said that’s not true.

About 1,100 advocacy groups worldwide, including the one in Dana Point, are working to increase awareness of diseases most people have either never heard of or wouldn’t think of as rare. Childhood cancers, for example, are considered rare. So, too, are developmental disorders with names such as campomelic dysplasia and pachygyria.

The RARE Project began in 2008 as an umbrella organization to connect multiple rare-disease groups. Though each disease affects a small number of people, almost 7,000 rare diseases affect 30 million people in the United States, 75 percent of them children, advocacy groups say. Most rare diseases don’t have a drug designed to treat them.

Nicole Boice began the RARE Project after a friend had a child with a rare disease. She saw how isolated the family felt and how worried they were. After some research, she learned how many people have rare diseases.

“I saw how large the community was and was just absolutely blown away,” Boice said. “I thought with so many people, why are they not talking to each other?”

Advocacy groups for patients of rare diseases often focus on a specific disease, making their numbers small. If the groups had an organization to connect them, Boice thought, they would have more power in numbers.

Numbers are often what it takes to get research done. Baber, who started an advocacy group for childhood cancer research called the Nicholas Conor Institute (after her 7-year-old son), joined forces with Boice. They figured they could play a role in showing scientists a large number of patients willing to be tested.

“We have to make it easy. That’s how this community will win,” Boice said.

Advocates aren’t expecting cures, she said. “We’re just looking for treatments, something to help these kids feel better for a while, maybe even live normal lives.”

This year her group launched the Global Genes Project, a campaign to increase awareness of children’s rare diseases. The group is encouraging supporters to wear denim ribbons or jeans on Rare Disease Day.

The group plans to start its first round of fundraising for research by this summer. The dream is to get as big as the Susan G. Komen for the Cure breast-cancer foundation.