Why sequence Lil Bub? – 2. It can teach us about rare diseases

In our last post, we explained that sequencing Lil Bub is important, because it can help with better diagnosis and treatment of the traits that Bub has. But Bub’s genome sequence could help cat- and mankind even more! It could teach us more about the rare disorders she has.

Are Lil Bub's special traits all because of one mutation?

Are Lil Bub’s special traits all due to one mutation?

The big deal about Bub is that she’s special and unique. Like, literally. She has all these cute traits: she’s tiny, her lower jaw is small, she has (almost) no teeth, she has polydactyly and a bone disorder diagnosed as osteopetrosis. Thing is, we know some of these traits individually. But, Lil Bub is the only one who has this combination of traits. This makes her really special for us.

Having 2 rare disorders is like being struck by lightning twice. It's unlikely, but not impossible. (Picture by Diamond Hoo Ha Man via flickr)

Having 2 rare disorders is like being struck by lightning twice. It’s unlikely, but not impossible. (Picture by Diamond Hoo Ha Man via flickr)

And it also means that understanding what gives her this special look, could help understand rare diseases better. See, the problem with rare diseases is that they are… well, rare. Polydactyly, for example, occurs in approximately 1 out of 500 births in the human population, but there are many-many different types. Osteopetrosis is even less frequent, occuring in 1 out of 20,000 or even just 1 out of 250,000 people*. Because these diseases are so infrequent and variable, it’s really difficult to study them. So, for example, we don’t know of any cases of osteopetrosis, which include polydactyly. Does this mean that Lil Bub has a new type of osteopetrosis? Or does she maybe have 2 separate diseases? Having 2 separate diseases is unlikely (it’s like being struck by lightning twice), but not impossible. If we find the mutation(s) that cause Lil Bub’s special looks we might be able to answer that – and thereby help understand rare diseases!

*depending on the type, described in this article by Stark and Savarirayan.

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