Why Rare Diseases Don’t Receive Enough Research Funding

It seems like every day someone is running a marathon, growing facial hair, or shaving their head in support of multiple sclerosis, cancer, autism, diabetes, or any number of the chronic conditions that affect millions of people worldwide. But what if the condition affecting you or someone you love is something no one has even heard of? It can be easy to feel left out, but the truth is there are still people who care, and you do have a voice that can be heard. Patient advocacy groups are important for any chronic disease, but their role may be even more crucial when it comes to raising the profile of those rarer conditions that not everyone knows about. The FSHD Story Facioscapulohumeral muscular dystrophy, or FSHD, is a type of muscular dystrophy that affects only one in about every 7,500 people (although estimates vary widely), according to theFSH Society, the world’s largest network of FSHD patients, their families, and research. Over time, people with FSHD experience progressive weakening of their skeletal muscles, usually starting at the top of the body and moving downward. While the disease only starts to manifest in adolescence or early adulthood and progresses slowly, over time it produces considerable disability. About one-fifth of those affected will lose the ability to walk by age 50. If the disease affects the lungs, it can be deadly. Researchers who specialize in rare or uncommon diseases can have a hard time obtaining funding for their work because major federal funding agencies give preference to research that is likely to have a direct impact on patients. With fewer people working on FSHD than, say, diabetes, the background research needed to understand the basic pathology of the condition takes much longer to establish. That means that research projects being submitted to funding bodies such as the National Institutes of Health (NIH) are exploratory in nature – trying to figure out what makes FSHD occur in the first place. That is obviously less compelling to the decision-makers at the NIH than, say, investigation into a drug that might cure breast cancer. That creates a vicious circle: the funding isn’t there to develop compelling research, and the research isn’t compelling enough to attract major funding. Patient Advocacy to the Rescue Michael Kyba, PhD, from the University of Minnesota was caught in such a circle. His research has focused on determining the genetic underpinnings of FSHD, but he wasn’t following the same path as most other researchers. His efforts targeted a genetic mutation known as DUX4, while most other experts in the field believed that the true culprit in FSHD was a different gene located on nearby DNA. Dr Kyba’s research received the attention of the patient advocacy community at a conference put together by the FSH Society. They believed in his work enough to finance the support of a postdoctoral fellow to help him along. The progress he was able to make with this help led to Dr. Kyba receiving his first NIH grant in 2008. With this support, Dr. Kyba and others were able to demonstrate how the DUX4 protein can be toxic to the body’s cells, including muscle cells. It looked like his hunch about this mutation was correct. The real power of patient advocacy groups became evident when three groups: the FSH Society, Friends of FSH Research, and the FSHD Global Research Foundation all banded together to help Dr. Kyba further his research. All three groups wrote letters of support to the NIH, and put their money where their mouths were by offering to match an NIH grant to the tune of $12,500 each. The NIH took notice, and Dr. Kyba received a grant allowing him to screen potential drugs for their ability to block DUX4. He hasn’t found a treatment for FSHD yet, but this is the closest thing to it that anyone has been able to achieve, and none of it would have been possible without the support of patient advocacy groups. How to Talk to the NIH According to John D. Porter, PhD, Program Director at the NIH/National Institute for Neurological Disorders and Stroke (NINDS), the story of how patient advocacy groups helped bring the importance of research on FSHD into focus for the NIH is a common one. “Program Directors at the NINDS have substantial interactions with patient advocacy groups,” he says. “We go to many of their meetings, actively participate in the meetings, including giving presentations on NIH activities, participate as invited members of advisory committees for these groups, etc. Overall, we make ourselves available to anyone from an advocacy group who wants information about how the NIH operates, what we fund, and what they can do to facilitate increased funding for their disease area.” According to Dr. Porter, patient advocacy groups can influence NIH decision-making by helping increase the number and quality of applications that are made in the area of interest. “The best practice for a patient advocacy group starting to work with the NIH is to develop a relationship with the Program Director(s) responsible for their disease area,” he says. According to June Kinoshita, Executive Director of the FSH Society, “only through mutual support -- providing diagnoses and care, educating one another about the nature of the disease, providing biosamples and resources for research, and so on -- can rare disease advocates make headway. This takes leadership, one individual or group, who step forward to gather people together and drive the process.” Don’t Lose Hope If you’re alone in a shopping mall handing out flyers that no one seems to want or unable to get more than a few people in a room to listen to you discuss a rare disease affecting you or a loved one, don’t lose hope. The internet makes it easy to find like-minded people from all over the world to brainstorm ideas on how to raise the profile of the condition that concerns you. Talk with the NIH. Find out who is doing important research and how you can help. You can make a difference.
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