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Rare Disease Science Challenge - Call to Action!

Scientist on September 28, 2012

Yesterday we published in Scientific American’s blog1 a call to action about the Scientist-sponsored Rare Disease Science Challenge.

If you or a loved one is unlucky enough to be affected by a rare disease then it can be a continued uphill struggle. Your doctor will likely never have seen a case before which means you suffer with symptoms while awaiting diagnosis, and this can sometimes take years. Even when an accurate diagnosis is reached there may be few treatment options; the pharmaceutical companies just aren’t interested in developing drugs to treat such a small market. For the majority (>95%) of the 7000 rare diseases there is no FDA approved therapy. Perhaps the cruelest twist of rare diseases, however, is that so many of the patients are young children. The NIH estimates that 50% of rare diseases affect children, and 30% of pediatric cases die before they reach their 5th birthday!

Collectively rare diseases are not rare. The fact is that while a disease might be labeled as “rare”, the number of persons suffering from one of the thousands of rare diseases is estimated at 10% of the population,2 or approx. 30 million people in the United States and 350 million people globally. Mainstream pharmaceutical companies have long ignored rare diseases. With the increasing de-centralization of scientific research, and the growth of the citizen science movement, however, there has never been a better time to tackle this problem head on. That’s exactly what Scientist is doing by teaming up with the Rare Genomics Institute - to bring awareness to the current broken system for diagnosing, treating and curing rare diseases.

The Rare Genomics Institute provides hope to children suffering with a rare disease. Most rare diseases are genetic in nature, caused by a mutation somewhere in the 3.2 billion bases of human DNA. The Rare Genomics Institute uses crowdfunding to pay for sequencing of the sick child’s genome and then assembles a network of academic specialists who work together to identify the child’s genetic mutation. Now Scientist has teamed up with The Rare Genomics Institute to take the process one-step farther, and go on the offensive with the Rare Disease Science Challenge.

The competition is open to researchers, foundations, or everyday people. Families with a child afflicted with a rare disease will have the opportunity to work with a network of academic researchers and use donated research services to develop research proposals tailored to their child’s needs. An expert panel of scientists will evaluate the research proposals with the final winner(s) selected by Facebook voting.

If we can improve the standard of care for just one rare disease we will bring relief to thousands of people, very likely children, who currently suffer. We think that is a dream worth fighting for. I am sure Chris and Hugh Hempel would agree. Their identical twin daughters, Addison and Cassidy, seen in the film below have been diagnosed with Niemann-Pick Type C, a rare, incurable and fatal genetic disease that causes progressive neurological deterioration.

This week, Global Genes, the leading rare and genetic disease patient advocacy organizations in the world, with the Kauffman Foundation is screening the Hempels’ story in Hollywood and revealing the grim truth; that diagnosing, treating and curing rare disease is moving at a tedious pace, and leaving heart-rending personal accounts in its path.

How can you help?

If you work for a company that offers research services or makes lab consumables, reagents or instruments ask them to get involved. The great thing about sponsorship is that it will cost your company very little, we’re not asking for money, just a donation of time or resources. Does your company make antibodies? How about donating some production capacity? Do you sell DNA sequencers, or mass spec instruments? Could you run some samples in your lab for us?

If you put your mind to it there are a multitude of ways your company could get involved for very little cost, and in return get some great publicity, and help a very worthy cause.

For the rest of you please help publicize the Rare Disease Science Challenge, post it, blog it, tweet it, let’s do everything we can to get the word out, and be a part of the solution.

  1. Scientific American Blog Post
  2. NIH Rare Disease information site