The term “orphan disease” is commonly applied to any debilitating medical condition that affects fewer than 200,000 Americans, young or old. These are rare diseases, but, regrettably, at last count, there were at least 6,000 of them, including SMARD—spinal muscular atrophy with respiratory distress.
SMARD is a life-threatening motor neuron disorder. Symptoms of SMARD are commonly seen within the first six months of life. Because SMARD undermines voluntary muscle function, infants who inherited a defective gene from both parents may be unable to lift their heads or may have other mobility limitations. Their inability to breathe or cough makes them susceptible to pneumonia and other respiratory infections. Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep. As a result, many children with SMARD never see their first birthdays.
Thanks to research taking place at The Jackson Laboratory, there is hope for the future for those affected by this disorder.
“At this point, my lab is only able to devote about five percent of our efforts to SMARD, and that funding comes from the National Institutes of Health,” says Dr. Greg Cox, a Jackson Laboratory principal investigator. “Grant funding for research is so tight that many funding agencies want to know that the outcome is guaranteed to work or has already been done instead of just funding a great idea. That’s why we rely more and more on other sources of support. But it’s been very difficult. Because SMARD is such a rare, orphan disease, it doesn’t generate much clinical pharmaceutical interest.
“Any help in terms of funding that we can get from the private sector, including gifts from individuals who understand what an insidious disorder SMARD is, will serve as seed money in terms of generating data and insights that would be required to attract the interest of larger, grant-making organizations,” says Dr. Cox.
“What we really need is 100 percent effort on this, but that will require more staff, and the cost of a post-doctoral position, between salaries and benefits, is about $50-60,000 a year. And my lab’s costs of maintaining the mouse models we require is about $100,000 a year, with probably 15 to 20 percent of that devoted to the model we use in researching SMARD.”
Read about the lab HERE