How to find a mutation? – Needles and haystacks

Finding a disease-causing mutation is like finding a needle in a haystack. Or rather like finding one needle in hundreds of haystacks. As in: it’s really difficult. Because the genome is a BIG place, and you’re looking for one small change*. So how do you go about finding such a change?

Finding a mutation is like finding a needle in a haystack (picture by t_buchtele via flickr).

Finding a mutation is like finding a needle in a haystack (picture by t_buchtele via flickr).

Basically, there are two strategies: Continue reading

10 days later: an update

This is just a short update, having completed the first quarter of crowdfunding. As of this morning the LilBUBome has raised 1,236$ and has 31 backers!!! We’ve had almost 5000 views on our different social media sites!

A big THANK YOU to everyone for bringing momentum to the LilBUBome!

And please don’t forget that our crowdfunding campaign is an all-or-nothing process, which means that if we don’t raise the full 6.500$ by May 24th we won’t get a single penny! If you’d like to help discover the science behind the magic of LilBUB, you can donate on our experiment.com site: http://experiment.com/lilbub.

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How to make a LilBubome – Step 1: Extract DNA

You might have already seen it in the video or in our last lab note: We recently received a blood sample from LilBUB. The blood was taken from her during her routine medical check-up with her vet, Dr. Woodruff.

And now that the sample has arrived in our lab, we can start the actual work! For this, what we need to do first, is to extract the DNA from the blood sample. Might sounds sophisticated, but actually: not at all!!!!

DNA extraction is composed by 2 main steps: 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

Crowdfunding just went live!

We’re super-excited! Crowdfunding just went live – if you want to help us investigate the science behind Lil Bub’s special looks and magic, go to our experiment.com site and donate. We are grateful for every donation, regardless if it’s 5$, 10$, 10$ (or even more). Our crowdfunding campaign is an all-or-nothing process, which means that if we don’t raise the complete amount until May 24th we will not get a single penny, and we will not be able to sequence Lil Bub. So don’t be shy, and don’t hesitate to help the LilBubome become reality!

Just go on our experiment.com site and click the

Just go on our experiment.com site and click the “Fund this project” button.

Thanks so much for your support!!!

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

Getting started: finding the science behind Lil Bub

Hi All,

Daniel, Dario and Uschi here – and this is our first ever post on the LilBUBome blog. We’re three scientists, working in Berlin, Germany and Lyon, France and the LilBUBome is our new pet project. It’s our attempt to sequence the genome of Lil Bub, the cutest internet celebrity cat ever.

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This is Lil Bub. She’s an amazingly cute cat living in Bloomington, Indiana, who has thousands of fans and followers across the globe. She has a unique combination of traits and we are looking for the scientific basis of these traits to find out what makes her so special.

Continue reading