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Skip to 0 minutes and 30 seconds Today we have with us Anna Di Rienzo, professor of the department of genetics at the University of Chicago. Her lab focuses on the genetic architecture of traits and diseases that vary across populations and tries to understand natural selection, and how natural selection is related to adaptation. To this end, they use empirical population genetics and functional genomic approaches, with computational analysis at genome scale. They are doing a lot of work trying to understand the patterns of human genome variation and to understand also disease mapping. In this interview, we are going to focus on the genetics of complex traits.

Skip to 1 minute and 17 seconds This is a very hot topic in genetics and in biology with much effort trying to elucidate the genetic architecture of complex traits, including, of course, complex diseases. At the very end, what is attempted is to understand how the genome shapes the phenotype. Anna, genetics has provided much of new results in the dissection of complex traits traits like diabetes, obesity, psychiatric disease, by doing what is called a “genome-wide association analysis”. Is this strike fruitful? Is it going to solve the problems related to the understanding of complex traits or the relationship between genotype and phenotype? Well, the genome-wide association studies are exactly about trying to connect genotypes with phenotypes, and specifically the disease phenotypes that you have mentioned.

Skip to 2 minutes and 18 seconds There are a number of very interesting results that have been shown in some diseases, like type 2 diabetes, the diabetes of the adult age. There is one gene that is known to be very important, and lots and lots of genes that have small contribution, that have a small influence on the probability of developing the disease. In other cases, the situation is much more complex. There is an even larger number of genes that can influence your risk, your probability of developing the disease. Now one challenge that has emerged is that for many diseases, the number of results that you find, in terms of the number of genes that you find to be associated with the disease, can be rather small.

Skip to 3 minutes and 25 seconds And they explain together [that] can change your probability of developing the disease by a very small amount. So from a practical standpoint, that means that we are still far from being able to use genetics to make accurate predictions of disease risk, and afford to make predictions that can change the clinical practice - what can happen in the clinic. But at the same time, there is certainly an increased understanding and knowledge of the kind of biological pathways, the groups of genes, the metabolic pathways that are important for some disease compared to others. This is clearly very different across the diseases.

Skip to 4 minutes and 22 seconds I think that so far, many autoimmune diseases diseases - those diseases in which the body produces antibodies against some component of our own body - have made a lot more progress, in the sense that we understand a lot better the genetics of these diseases. For metabolic diseases, perhaps psychiatric diseases, asthma… there are many complications that are still not completely accounted for.

Conversation with Anna di Rienzo. Part 1

Anna di Rienzo, Professor in the Department of Human Genetics at the University of Chicago, Illinois, USA

Her research focuses on the genetic architecture of traits and diseases that vary across human populations; and on understanding the role of natural selection in shaping this architecture.

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Why Biology Matters: The Genome and You

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