There are a lot of “rare diseases” out there, a complex menagerie of conditions that you probably will never hear about. But every day, people are diagnosed with an unusual, difficult-to-treat and often debilitating and deadly disease. Infections, metabolic disorders, inherited syndromes, cancers; there are all kinds of things that can go wrong with your body. There are so many, in fact, that “rare diseases” as a group account for thousands of deaths each year. They’re hard to treat, but not always impossible. Much of our understanding of biology actually comes from studying these diseases. Identifying the cause of a family’s recurring cancer, for instance, might identify a new pathway that helps us understand both healthy cells and other cancers. And sometimes, basic biological research can throw up a potential solution to an otherwise intractable illness. Our lab studies several rare diseases as models for what happens in healthy cells, with the twin aims of understanding how fundamental processes happen in our bodies, and looking for strategies that might be useful in treating the diseases. I wrote a post about the disease that I’m working on, light chain amyloidosis.
There’s actually been a lot more movement recently from biotech and pharmaceutical companies on these diseases, for two reasons. First, the FDA is more willing to approve drugs for “orphan” diseases that have no other treatment. Second, the cost of caring for patients (especially in the US) is so high that companies can charge astronomical prices for drugs, which are paid for by insurance companies because they nevertheless represent a saving. And there we have a microcosm of the moral ambiguities associated with pharma in the developed world. It’s miserably expensive to develop treatments, and the failure rate is appalling, which means that the patients end up paying a huge overhead. And here in the land of the free, that means that there’s a substantial number of people who can’t access the treatments that they need.
Recently, ultra-rare diseases have gained a bit of attention. These are diseases that affect only a few people worldwide. The rarest of the rare is NGLY1 deficiency, which was the subject of a beautiful feature in the New Yorker by Seth Mnookin. There are only a handful of known patients in the world with this disease, and the fact that we even know about it is a testament to the persistence of the family of Bertrand Might, the young boy in whom the disease was first characterized. The story (you really do need to read Mnookin’s article) is a testament to what can be achieved, but also to how much we still need to do. With a few (rich) backers, NGLY1 deficiency has become a small but significant area of research, but it will be many years and a whole lot more money (it seems terribly mercenary to talk about cuts to medical research budgets here, but I’m going to anyway) before we can think about curing it.
Which makes me wonder: how many less well-connected people are suffering from diseases that we don’t even know about, let alone understand?