Why sequence Lil Bub?

Many people have asked us why we want to sequence Lil Bub? Because we can? Well, curiosity is part of it, but there's much more! First and foremost, we think it can help pets and humans with traits similar to Lil Bub if we can find the genetic cause(s) of Lil Bub's special looks. It could help diagnosis and also guide treatment(s).

Lil Bub's osteopetrosis

Lil Bub has a very rare bone disorder, which has been diagnosed as osteopetrosis. It means that her bones become more dense with age, and when she was about one year old, this bone disease was so painful that she could barely move. Luckily Mike, her owner, found a treatment that worked for Lil Bub. Here's a video of her recovery:

Does this mean that her therapy is a good treatment for other cats with osteopetrosis? Does this mean that people with osteopetrosis should also be treated with radiotherapy? Currently, the answer is – we don't know. But if you know what causes the osteopetrosis you can start answering these questions.

Better diagnosis -> better treatment For example, if we knew the cause of Lil Bub's osteopetrosis, we could check if other cats with similar symptoms have the same mutation. If yes, then maybe the treatment that worked for Lil Bub would also work for these cats. We could also check she shares the same mutation as humans with osteopetrosis. If the mutation is shared it would mean that the origin of the disease is shared, and successful treatments from humans could possibly be applied in cats.

Lil Bub's genome has even more magical powers! Bub's genome sequence could help cat- and mankind even more: It could teach us more about the rare disorders she has. 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.

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

It means that understanding what gives her this special look, could help understand rare diseases better. Because the problem with rare diseases is that they are… well, rare. Therefore, 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!

The bigger picture… and why the Lilbubome is part of it Moreover, every single cat or person, for whom we have a genetic diagnosis with a causative mutation and a successful treatment, is like an individual puzzle piece. In the long run, we can start putting these puzzle pieces together for a bigger, more detailed picture. This way, sequencing the genome of one little cat can help answer a big problem in diagnosis and health care.