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

• Marie Allen – New methods for improved forensic and historical DNA analysis
   
• Bondeson/Annerén – Next-Generation Sequencing for exploratory research and clinical implementation
   
• Niklas Dahl – Genetics and pathophysiology of monogenic traits
   
• Marcel den Hoed – Molecular Epidemiology and Translational Medicine
   
• Jan Dumanski – Molecular oncology
   
• Lars Feuk – Genetic variation and transcription in human disease
   
• Lars Forsberg – The role of loss of chromosome Y (LOY) in human health and disease
   
• Ulf Gyllensten – Human genomics and molecular epidemiology
   
• Åsa Johansson – The role of genetics and epigenetics on human health
   
• Claes Wadelius – Genomic Analysis of Gene Regulation
   
• Helena Åkerud – Reproductive medicine