Seminar by Stanislav Kmoch, Institute for Inherited Metabolic Disorders, Charles University in Prague

29/11/2012 - 12pm

Aula Fèlix Serratosa - PCB

Emerging genomic techniques, improving annotation of human genome sequence, expanding knowledge on genetic variability in humans and information on evolutionary conservation together with availability of sophisticated bioinformatic tools are changing a way how we can identify and characterise causative genes of many human diseases.


The field is currently moving from "classic" linkage and association studies to detailed genomic analysis of single families and cases. This trend will be demonstrated on several examples of rare genetic diseases and complex phenotypes.