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Finding a Home for Orphan Diseases

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Many of you know already that I suffer from rheumatoid arthritis, as I have spoken about it many times here on HuffPost, and other places such as Now, some might say I was cursed, but I learned to live with the disease and figured out how to make it work for me when I can. Of course, this is only possible because there is medications available which control my illness enough to allow me to live my life in a semi-normal fashion (most days). Sure, I have only found a few that actually work to lessen the symptoms of my illness, but they do exist.

Well, recently, I spoke with someone who opened my eyes to an entire class of diseases for which there are few to no medications available, and almost no plans to create any remedies in the near future. These ailments are called "rare" or "orphan" diseases.

The name sounds scary, I know. Who would want to suffer from a "rare" disease or an "orphan" illness? Fortunately, the actual definition is a bit less frightening (for the criteria that can be agreed upon). Most rare diseases are genetic, and are usually present throughout most of the patient's entire life. Many of these orphan diseases appear early in life, and about 30 percent of children with these types of diseases will die before they reach their fifth birthday. Beyond those two statistics, though, the definition gets a bit fuzzy.

There is no universally accepted cutoff number for the amount of affected individuals when classing a disease as "rare" or "orphan," and a disease that may be considered rare in one part of the world can be common in another area. This is why there is no single, accepted definition for this group of illnesses. Here in the United States, the Rare Disease Act of 2002 attempts to define a rare or orphan disease according to the prevalence of the condition. It specifies that "any disease or condition that affects less than 200,000 persons in the United States" constitutes a rare disease. On the other hand, the European Commission on Public Health defines rare diseases as "life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them." "Low prevalence" is defined as fewer than one in 2,000 people. Oddly, the U.S. definition does not include diseases that are not life-threatening, so again, it depends on where you live.

So here we are, with about 7,000 orphan genetic diseases affecting over 200 million people worldwide. Even though it sounds like a good portion of the population, the NIH only devotes a small portion of its yearly budget to the study of these rare diseases. Traditionally, the best hope to further the study and research of these types of illnesses has been parent groups and one-off grant projects. Now, though, there is a new effort that may be an invaluable aid to those who are afflicted with and those who study orphan diseases.

About a month ago, I had a chance to speak with Jimmy Lin. Jimmy is a computational geneticist at Washington University in St. Louis, Missouri, and more importantly, he is the founder of the Rare Genomics Institute. According to their website, the Rare Genomics Institute is a "nonprofit organization that facilitates the funding, access, and translation of whole genome sequencing technologies for people with rare or orphan genetic diseases." Quite a mouthful. In layman's terms, though, the Institute exists to help those afflicted with rare diseases sequence their DNA.

"How is sequencing the DNA of orphan diseases going to help those who are ill?" This was one of the first questions I asked Jimmy Lin when I spoke with him. He told me that there are researchers who want to work with the genomes of people who suffer from orphan diseases, but do not have the information necessary to do so. Both academic and clinical laboratories have shown interest in attempting to crack the codes of these ailments, but without the sequenced genomes being readily available, the research was always doomed before it began. Now, though, genome sequencing has reached a point where it is within reach of almost anyone who wishes to have it done.

Ten years ago, sequencing a human DNA genome would not only take years of work, but the cost would be astronomical. In addition, there were only a handful of laboratories that could even do such work. Today, in contrast, genome sequencing can be done much more quickly, and the cost is less than $10,000 US dollars. Because the price tag is so much less in today's world, a charity drive or one-off special event can usually raise enough money to provide for the sequencing of a rare disease genome. This is where Jimmy Lin's Rare Genomics Institute comes in. The RGI not only sequences the actual DNA of the patient, but they also help with community fundraising efforts as well as providing links between patients and experts in the requisite field of disease study.

So, as you can see, Jimmy Lin and his Rare Genomics Institute certainly have a noble goal in mind. I curse the bad days when my rheumatoid arthritis acts up, but I truly do not know what I would do if there were no treatment available for my illness. Fortunately, I do not have to deal with that nightmare, but as you can see, there are a significant number of people, many of whom are children, who have to deal with that exact problem. Traditionally, funds and grants are given much less for the study of orphan diseases, and even when they are, the amounts are so insignificant that the studies do not attract many of the more prominent genetic researchers. The Rare Genomics Institute hopes to change all that by making the genome sequences of these diseases readily available to well-known, successful, researchers, and they have already set up shop in places such as Yale, Johns Hopkins, and the University of Washington.

So this new year, as you jot down your resolutions for 2012, keep in mind just how lucky you are that you do not suffer from a disease that not only has no treatment, but probably has no name! Check out the Rare Genomics Institute, and help to spread the word about orphan and rare diseases. Who knows, you may be diagnosed with an illness one day that the RGI helped to name and treat.

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