SciLifeLab The Svedberg seminar series

Monday, November 24

Jean Louis Mandel

Professor of Medical Genetics at the Faculty of Medicine of Strasbourg. Professor of Human Genetics at the Collège de France, France

The laboratory of Jean-Louis Mandel has identified about 20 genes that, when mutated, cause hereditary diseases affecting the nervous system or muscles, including diseases caused by trinucleotide repeat expansions. For some of these diseases he pursued studies of patho-mechanisms using cellular or mouse models. Furthermore, he developed diagnostic tests for several disorders.

Intellectual disability: From molecular diagnosis by Next Generation Sequencing to (hopefully) personalized medical care

I will present our current strategy for molecular diagnosis of intellectual disability, with some examples of surprising findings, and will discuss the pros and cons of gene panel versus exome trio (parents-child) sequencing. I will then ask how might-one improve personalized care of individuals with specific genetic causes of intellectual disability and autism spectrum disorders (ASD), given the extreme genetic heterogeneity of these conditions.

Host: Niklas Dahl