Nyegaard group

Reseach focus

The focus of the Nyegaard group is the human genome. Using a combination of computational and experimental biology we are searching for genetic variation linked to human health and disease.

Special focus is on endometriosis and cardiovascular disease.

The goal is to pinpoint molecular subtypes and uncover underlying mechanisms in human diseases. During the last two decades work has been done on more than 20 different traits, leading to more than 100 publications.

Research Areas

Common complex traits

Credit: stock.adobe.com

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) and the Danish Blood Donor Genetic Consortium. Current main project in complex disease is

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

GWAS of endometriosis. A large international genome-wide association meta analysis with in total 60.000 endometriosis patients are currently being conducted by the international Endometriosis Consortium, where we are contributing with samples from primarily the Danish Blood Donor study. 

Rare diseases

Foto: Colourbox

Early-Onset Myocardial Infarction. MD PhD Morten Krogh Christiansen has collected extended pedigrees with multiple family members suffering from early onset myocardial infarction. Through whole genome sequencing of the patients in close collaboration with deCODE we are searching for novel disease genes for early onset coronary artery disease.

Stress-induced carciac arytmia (CPVT). We identified in 2012 the first missense variant ever found in calmodulin (CALM1) in humans and linked the variant  to a rare form of stress induced cardiac arrhythmia in a large Swedish family. The finding was published in AJHG. The locus is today called CPVT4. There are in total three genes encoding calmodulin and all genes are today known to be  a major genes for CPVT and Long QT syndrome. We are now working to understand if calmodulin mutations can cause other diseases than cardiac arrythmia.

Acne inversa. In this ongoing project we are searching for novel genes and mutations for Acne Inversa using linkage and exome sequencing in families from Cuba. The project is in collaboration with Dr Beatriz M. Teruel.

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.

Nonsyndromic hearing loss.  Using a combinatioin of linkage analysis, next generation sequencing and fuctional studies we identified in 2015 a novel gene for non-syndromic hearing loss. The locus was named DFNA66. The pathogenic mutation was found in the CD164 gene encoding endolyn. The paper represents a classical gene mapping study.

Reproductive genetics

Foto: Colourbox
Foto: Colourbox

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, pain and anxiety: The aim of this project is to determine if there is a genetic overlap between endometriosis, anxiety and pain in Denmark with particular focus on genes in the estrogen signalling pathway. This project is carried out in close collaboration with Axel Forman, Karina Ejgaard Hansen, Dorte Rytter, the iPSYCH consortium and the Danish Blood Donor Genetic consortium.

Aquired (somatic) mutations in the endometrium: In this project we are planning to use next generation sequencing to clarify if the endometrium of endometriosis patients and 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.

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.

What genetics also can be used for

Foto: Privat
Photo: César Villarroel, ExploraSub

Working in my lab during her PhD, my sister Dr Marianne Nyegaard was able to identify a brand new species of ocean sunfish using basic genetic tools. Congratulation! She named it Mola tecta: the hoodwinker sunfish. Read the story 

We are now working on developing a field protocol for on-site mola species identification using the hand-held nanopore sequencer.


My sisters webpage on sunfish