“Tackling human gene function in model organisms”
Hosted by the Department of Genetics
Abstract: It is estimated that there are more than 300 million patients worldwide with a rare genetic disease. Many of these patients remain undiagnosed for many years. By sequencing their genomes and those of their relatives, human geneticists can now discover genetic variations that are rare or ultra-rare. However, considering that there are many polymorphisms in the population, assessing which variant(s) is/are related to the observed symptoms remains a significant challenge. This is precisely where model organisms can contribute and Drosophila is now playing a prominent role in the discovery of rare human genetic diseases as part of the Undiagnosed Diseases Network and based on collaborations with human geneticists around the world. I will show how we participate in the discovery of new human diseases, the technologies that allow us to do so, how we work out the pathogenic mechanisms, and how we screen existing drugs for therapeutic purposes.
Full schedule, Genetics seminars
For inquiries contact Debbie Pfeiffer.
