Once famously described as “orphan diseases, too small to be noticed, too small to be funded” in the Hollywood drama “Lorenzo’s Oil,” rare diseases are getting unprecedented attention today among drug manufacturers, who are ramping up research efforts and marketing new medicines that promise fuller lives for children and other patients with these heartbreaking conditions.
That’s the finding of a major examination, published in the current edition of Chemical & Engineering News. C&EN is the weekly newsmagazine of the American Chemical Society, the world’s largest scientific society, and reaches more than 138,000 scientists, policymakers, educators and others. Written by Senior Editor Lisa Jarvis after months of interviews with patients, parents, pharmaceutical industry officials and others, the story focuses on the status of new drugs for rare diseases. Those 7,000 conditions affect 200,000 patients or fewer.
Jarvis describes how a combination of factors coalesced to foster a renaissance in drug development for rare diseases. Smaller drug companies, for instance, have shown that it is possible to make big profits from sales of medicines for rare diseases, and larger companies have taken notice. Patient advocacy groups are another driving force. They are directly funding some research and drawing attention and dollars for research. Deeper insights into the genetics of rare diseases and federal legislation extending patent protection for treatments also have helped.