Research areas

Gene mapping in Common Complex diseases

Identification of common and rare risk variants in complex diseases is performed through large-scale genome-wide association studies (GWAS) and epigenome-wide association studies (EWAS). The lab is associated with the Integrative Psychiatric Research (iPSYCH) consortium (ipsych.au.dk/). Two main projects in complex diseases are

GWAS of alcohol and substance abuse. Genome-wide association study of alcohol and substance abuse using data from 90.000 Danish individuals genotyped with the illumina PSYCH chip in collaboration with researchers from the iPSYCH consortium and UCL.

EWAS of mood disorders. Epigenome-wide association study of bipolar disorder and depression. The project also include detailed analysis of selected candidate genes in large samples. The project is the Phd project of Anna Starnawska and is carried out as part of iPSYCH and involves also colleagues from the Danish Twin Register, Odense University Hospital.

    

    

 

 

 

 

Gene mapping in Mendelian disorders

The laboratory is involved in multiple project identifying new genes (or novel mutations in known disease genes) for rare monogenic diseases. A typical approach is to use classical linkage analysis to identify the responsible locus followed by next generation sequencing and functional studies depending on the candidate mutation(s) identified. Using this strategy, the lab was responsible for the identifying a novel gene for sudden cardiac death (CPVT4, CALM1) and recently for non-syndromic hearing loss (DFNA66, CD164).

Current mapping projects in monogenic disease are

Acne inversa. In this project we search for novel genes and mutations for Acne Inversa using linkage and exome sequencing in three large Cuban families. This project is performed in collaboration with clinicians in Cuba and Anders Børglum.

X-linked paraplegia. A new locus has been identified and is currently being sequenced using Complete Genomics to identify the cause of the disease in this family. Project PI is Uffe Birk.

Molar pregnancies. Rare biparental molar pregnancies are analysed using SNP6 to identify genomic abberations. Project PI is Lone Sunde.

Early-Onset Myocardial Infarction. Extended pedigrees with multiple family members suffering from early onset myocardial infarction are collected. Exclusion linkage and exome sequencing are performed to identify rare varaints with large affect size. This project is the PhD project of Morten Krogh Christiansen, Aarhus University Hospital.

Reproductive genetics

A key interest in this laboratory is reproductive genetics and the biology of the endometrium. This interest originate from my post doc stay in Dr. Giudice's reseach group at Stanford Medical school. A special interest is in endometriosis, which is a common gynecological disorder associated with the growth of misplaced endometrial tissue in the womb, pain and infertility. The disease has a high heritability.

Genetic overlap between endometriosis and mood disorder: The aim of this project is to determine if there is a genetic overlap between endometriosis, migraine and mood disorder in Denmark with particular focus on genes in the estrogen signalling pathway. This project is carried out in close collaboration with the iPSYCH consortium.

Somatic mutations in the endometrium: In this project we use next generation sequencing to clarify if the endometrium of healthy woman contain somatic mutations, and if yes, whether such mutation play a role in endometriosis. This project is carried out in collaboration with clinicians at Aarhus University Hospital, Odense University hospital and Aalborg University.

Endometrium priming: Priming is another word for taking a small biopsi of the endometrium prior to IVF treatment to increase the implantation rate. In this project, we perform RNAseq and DNA methylation arrays of the endometrium before and after biopsy. The goal is to understand the molecular consequence of an endometrium biopsy, and potentially to identify a specific group of woman who would benefit from this treatment. This project is carried out in close collaboration with researches at Fertility Clinic Horsens Sygehus, and Aarhus University Hospital, and Statens Serum Institute.