My name is Sergio Casas-Tintó. I work at the institute for rare diseases at the National Health Institute Carlos III.
Rare diseases are a worldwide problem. If we put the numbers together, there are more than 6,000 rare diseases. It is estimated that more than 300 million people worldwide are affected by a rare disease. 70% of these rare diseases have a genetic origin.
This is why we are following the idea of generating animal models, which are based on genetics. To generate the animal models that we want to do, we use different strategies, different animal models. Mainly, we use Drosophila melanogaster, we use human cells in culture, and we use mice xenografts, which is to put human cells in mice to reproduce the disease.
In particular, on the side of the genetics, we put a big effort working with Drosophila, and we generate avatars. The idea of the avatar is that you reproduce exactly the same mutation that you have in a patient, you reproduce it in the fly. We have to take into consideration that Drosophila shares 70% of the genes which are related to human disease are conserved in the fly. That means that you can modelize, most likely, 7 out of 10 situations in the fly. Well, gene editing has changed the perspective that we have on the design of animal models.
So for years, we have been downregulating or upregulating gene expression in animal models, but that was not done in a very precise manner. So we could silence a gene or knock it down with RNAi mutations, dominant negatives, or we could upregulate particular genes. But now, with the CRISPR technology, in particular, to all cases, this is a unique opportunity to generate animal models with exactly the same genetic mutation that we find in the patients.
So this scenario is much closer to the real situation than it was before. Gene editing, CRISPR, and the generation of avatars is bringing novel frontiers to the research that we do, and in particular, I'm very excited for the future in real personalized medicine where each patient will have a personalized study and a personalized treatment.
