Our stretch goal: Maine Coons. The sky’s the limit for awesome cat genetics!

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A Maine Coon with polydactyly. [by Jorbasa, via flickr]

As we posted yesterday, we have reached the full amount needed to sequence BUBs genome. Thanks again to everyone who made this happen! But the fundraiser is still not over! You can still donate on the experiment.com site and we have 5 more days to prove that we can do even more awesome science – with your help! Here’s what we propose to do:

We’ve set our stretch goal to 30.000$ and the money that we raise will go towards Leslie Lyons’ 99 Lives Cat genome sequencing initiative. More specifically, we would like to sequence another cat breed, with traits that resemble those of LilBUB. This will help us understand BUB’s genome data better. At the same time we will get insight into the health and biology of this breed. And after a long discussion with Leslie this afternoon we have settled for Maine Coons.

Here’s why: Continue reading

Same, same, but different? Meet Rosie, another cat with osteopetrosis.

One of the great things about the LilBUBome is that it’s an open science project, so we get to interact a lot with people who are interested in our science. One of these people is Ann, whom we got to know through Mike (BUB’s dude). Ann had contacted Mike a few months ago, because she also has a cat, Rosie, who was recently diagnosed with osteopetrosis, and Ann wanted to know more about the disease.

Of course, we were really fascinated by Ann & Rosie’s story: osteopetrosis is a rare disease, and even more rare in cats. BUB seems unique, because she’s the only cat with a juvenile (early-onset) form of the disease. Rosie’s case seems different.

Rosie & Ziggy April 2015

A furball with piercing green eyes. Meet Rosie, another cat with osteopetrosis.

For example, she only developed osteopetrosis when she was older, so – unlike BUB –  she’s actually quite long and lean (BUB is probably so small because her osteopetrosis forced her bones to calcify and stop growing too quickly).

Also, Rosie has different symptoms than BUB, and also received a different treatment. However, similarly to BUB she seems to be doing fine, despite living with osteopetrosis.

So, similarly to human patients with osteopetrosis, the disease seems to be rather diverse in cats, too. To get a better picture, we asked Anne to tell us Rosie’s story. Continue reading

Ask an Expert – Prof. Uwe Kornak on BUB, Osteopetrosis, and Genetics.

Hi All,

as we mentioned before, we are connected with experts in cat genetics and bone disorders, who back us up on all the expertise we don’t have. With their help we think we have a very good chance of finding BUB’s mutation once we get her genome sequence.

It also has the big advantage that we can ask them basically anything. And so we did, when we asked Prof. Uwe Kornak from the Charité University Hospital about LilBUB, types of osteopetrosis and the diffences between mutations in animals and humans. Read on…… Continue reading

Congratulations! It’s a Hemingway.

Hi All,

Last week Daniel was busy in the lab, doing a first experiment for the LilBUBome. And as we briefly posted yesterday: he found something really cool! We actually just wanted to test whether the DNA we extracted from BUB’s blood was of good quality. So we decided to do this by checking the DNA sequence of BUB’s ZRS.

Well, it turns out that with this experiment, we found out why BUB has polydactyly AND discovered at the same time that she’s (very, very, very distantly) related to Ernest Hemingway’s cats!

Here’s the full story. It’s a bit long, but worth the read… Continue reading

Why sequence Lil Bub? – 1. For better diagnosis and treatment

Many people have asked us why we want to sequence Lil Bub? To satisfy our scientific ego? Because we can? Well, curiosity is part of it, but there’s much more! First and foremost, because 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, was very persistent, and with the advice of fans and specialists, they found a treatment that worked for Lil Bub. It’s called Pulsed Electromagnetic Field Therapy. This is a video about Lil Bub’s miraculous 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? Is cat osteopetrosis the same as human osteopetrosis? Currently, the answer is – we don’t know. But if you know what causes the osteopetrosis you can start answering these questions. Continue reading

From genetics to traits – Screentime

Last week, we posted some background info about the scientific principles behind the LilBubome. Specifically, we introduced the concept of DNA, and that it is the unique combination of DNA building blocks, which gives everyone their individual traits. Importantly, these principles are universal across all walks of life. If you’re interested in the topic, and especially the relevance for human traits and diseases, here’s a two-hour show from PBS from 2001, when the human genome was first sequenced. It explains about the things you can read out of a genome sequence – we’ll recap this, when we explain about the things we are looking for in Lil Bub’s genome. The show is great, but please note that there are some inaccuracies. In particular, the sequencing technology they describe is more than a decade old, and a lot has happened since then (we’ll write about the technology that we’ll be using later).

Dee-eN-A-what?

The science behind the LilBubome – Part 1.

In our previous blog post we spoke about the concept of the LilBubome and our idea to raise money for it through crowdfunding. Today we want to tell you a little about the science behind the project. We’ve mentioned that we want “sequence the DNA of Lil Bub”. Here, we explain what that means. Continue reading