Steven Gray used to spend long hours in the lab for the simple love of science. As a postdoctoral researcher, he was tinkering with a virus in search of ways to shuttle genes into nerve cells for gene therapy. Then, in 2008, his adviser sent him to a meeting held by a non-profit organization called Hannah’s Hope Fund, and Gray found a new inspiration.
Hannah’s Hope Fund is a charity based in Rexford, New York, that supports research on giant axonal neuropathy (GAN), a fatal nerve disorder. At the meeting, Gray met Hannah Sames, a clumsy four-year-old with tight curls and a sweet smile whose disease had inspired her parents to start the charity. He launched a GAN project after the meeting. “I looked at her and saw my own daughter,” says Gray, whose child was then also four. “Now I’m focused on finding a treatment, almost as I would for my own child.”
GAN is one of more than 6,000 rare, or ‘orphan’, diseases that affect humans worldwide. Such diseases typically strike fewer than 1 in 2,000 people, and present unique challenges to researchers and drug developers, who have access to limited numbers of participants for clinical trials and few resources such as animal models.
But for scientists who can overcome such challenges, the rewards can be tremendous. From a practical perspective, an increasing interest from industry and available government funds dedicated to rare diseases have brought new job options. “There are great opportunities for people in academia to interact with pharma and to access government funding,” says Daniel Ory, who studies Niemann–Pick type C disease, a genetic neurodegenerative disorder, at Washington University in St. Louis, Missouri.
Rare-disease research also offers rich returns for scientists who thrive on interaction, adds Ory. Because of the small numbers affected and a dearth of information about most rare diseases, scientists must work closely with patients and their families. They also frequently collaborate with patient-advocacy organizations to gather tissue samples, learn more about symptoms and recruit subjects for clinical trials. Personal interaction presents challenges: many rare diseases are fatal, and they often affect children. “It really doesn’t get any more raw or emotional,” says Nick Leschly, president of biotechnology firm bluebird bio in Cambridge, Massachusetts, which is seeking treatments for several rare diseases.
Thanks mostly to the fervour of patient advocates, research into rare diseases is booming. Philanthropic donations have allowed universities to set up rare-disease centres, such as the University of Pennsylvania’s Center for Orphan Disease Research and Therapy in Philadelphia, which has awarded more than US$4.1 million in grants to its researchers since it opened in 2011. In 2012, the US National Institutes of Health (NIH) awarded $3.6 billion for rare-disease research, including supporting dedicated initiatives such as its Therapeutics for Rare and Neglected Diseases programme. The European Commission’s Seventh Framework Programme for research funding spent an estimated €530 million (US$720 million) on orphan diseases between 2007 and 2013, according to EURORDIS, an alliance of rare-diseasespatient organizations based in Paris.
But it is in industry that the field has really taken off. Pharmaceutical companies that once shied away from developing drugs for small markets have learned from success stories such as Genzyme, an orphan-disease company based in Cambridge, Massachusetts. Genzyme built a booming business, compensating for the small market by charging high prices. (There are programmes to help patients to pay for their drugs, but the pricing remains controversial — see ‘Cost conundrum’.) Other companies are now flocking to take advantage of regulatory incentives: in the United States, firms sometimes receive tax credits for clinical trials of orphan-disease drugs, and US and European regulators often streamline the approval of such medicines. One-third of the 39 drugs approved by the US Food and Drug Administration (FDA) in 2012 were for orphan diseases, and the global market for them is expected to grow from $86 billion in 2012 to $112 billion in 2017, according to BCC Research, a market-research firm in Wellesley, Massachusetts.
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