A functional human genome project: integrated research of human congenital disorders.

One of the major challenges in contemporary biomedical research is the annotation of the human genome. This means the functional characterization of all human genes identified by the Human Genome Project. An elegant way of achieving this is to identify the genes that underlie genetic diseases in humans. We are active at the interface between clinical genetics and basic research and have a long-standing expertise in clinical and molecular research of congenital disorders. Our emphasis is on congenital malformations, malformation syndromes and microcephaly, and neurodevelopmental disorders including intellectual disability and congenital disorders of glycosylation. The aim of this proposal is to identify novel (candidate) genes for human genetic disease, starting from unique and interesting patients and families and applying state-of-the-art genetic technologies and methodology in an integrated way to localize and interpret different types of genetic variations.

Keywords:Genetics, Syndromology, Malformation, Next generation sequencing, Microcephaly, Heart defects, Mental retardation, Mutation

Disciplines:Genetics, Systems biology, Molecular and cell biology, Gynaecology and obstetrics, Morphological sciences, Laboratory medicine, Medical systems biology, Neurosciences, Biological and physiological psychology, Cognitive science and intelligent systems, Developmental psychology and ageing