Medical genetics and genomics

The research groups in this programme are addressing basic mechanisms in genetics, epigenetics and genomics as well as more applied questions in clinical genetics, genetic epidemiology, cancer genetics and forensic genetics.

We use methods that can identify differences in single genes as well as in our genome as a whole. The aim is to understand the function of our genome and to identify causes of metabolic diseases, cancer, neurodevelopmental disorders and congenital malformations.

Our studies on the genetic variability of the human genome will increase the knowledge of our evolutionary origin. We also develop new methods for forensic DNA testing that allow analysis of challenging samples from crime scenes.

Research groups

New methods for improved forensic and historical DNA analysis – Marie Allen

Next-Generation Sequencing for exploratory research and clinical implementation – Bondeson/Annerén

Genetics and pathophysiology of monogenic traits – Niklas Dahl

Molecular Epidemiology and Translational Medicine – Marcel den Hoed

Molecular oncology – Jan Dumanski

Genetic variation and transcription in human disease – Lars Feuk

The role of loss of chromosome Y (LOY) in human health and disease – Lars Forsberg

Human genomics and molecular epidemiology – Ulf Gyllensten

The role of genetics and epigenetics on human health – Åsa Johansson

Phosphorylation profiles, biomarkers and the adenovirus replication cycle – Ulf Pettersson

Genomic Analysis of Gene Regulation – Claes Wadelius

Reproductive medicine – Helena Åkerud