A rare disease gets a new champion

A hedge fund manager and his battalion of scientists are hunting down a cure for Spinal Muscular Atrophy

A rare disease gets a new champion
SMA research depends on one man, and his considerable resources, determined to save his daughter [Image credit: Andres Rueda via Flickr]
By | Posted December 21, 2011
Posted in: Health Blog
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A new $490 million business deal pits pharmaceutical companies against each other in a race to develop drugs for a rare genetic disease: Spinal Muscular Atrophy (SMA). One in 8,000 babies is born with SMA compared to  one in 4,000 born with Cystic Fibrosis, a similar degenerative disease that has garnered much more public attention and fundraising.

SMA therapy has lagged partly due to this lack of awareness. Unlike Miley Cyrus in the case of Cystic Fibrosis, there is no influential advocate for SMA. But Wall Street hedge fund manager Dinakar Singh started the SMA Foundation with millions of dollars from his and his wife’s personal fortune when his daughter Arya was diagnosed as a young child.

Singh calls the disease “common and potentially treatable”, and has been trying to light a fire under research scientists for years. It’s the kind of story that happens in movies: dad leaps into a pharmaceutical lab to convince scientists to find a cure for his dying child before it’s too late.

I hadn’t heard of the disease before this business story, and maybe its enigmatic presentation is the reason why. Sometimes an infant is born with the disorder and dies shortly after, but milder cases live a traditional life span with only minor disability, mainly muscle weakness and difficulty breathing.

One thing that strikes me about this recessively inherited disease: only a child of two carriers can develop SMA. Genetic counseling can screen parents for CFTR mutations for Cystic Fibrosis before they conceive, which is why the American College of Obstetricians and Gynecologists  recommends testing for couples with a family history of Cystic Fibrosis.

French researchers discovered the defective gene responsible for SMA on chromosome 5 back in 1995. As it becomes easier to sequence whole genomes, it shouldn’t be that hard to identify SMA carriers ahead of time. If this much money is being poured into treatment/cure research, surely some could be diverted to encouraging SMA screening. This wouldn’t help cure Singh’s daughter, the SMA poster child, unfortunately. But it would open up a dialogue about genetic screening for lesser-known diseases, and that’s a conversation we should be having.

Posted in: Health Blog

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  1. Although Dinakar Singh is undoubtedly well placed to assist in promoting awareness of SMA and the research currently underway to discover a cure for the disease, it is not necessarily the case that ‘SMA research depends on one man’ as stated in your article. There are many teams of researchers around the world working together at all stages of medical research into the condition, for a which a cure is tantalisingly close (it has been selected by the NIH as the disease closest to a viable treatment).

    The SMA Foundation works with other funders throughout the world to make this research happen and equal credit should really be given to all those working towards a cure. Like Dinakar Singh’s foundation, The SMA Trust (http://www.smatrust.org) also direct funds towards the projects in the UK and Europe most likely to make a difference in this process.

    SMA carrier screening is a potentially beneficial option, so long as funds are not diverted from research to eradicate the condition. Few would argue that screening should take preference over causal research.

    Hugo Pickering, January 1, 2012 at 10:07 am
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