Research overview

​See an overview of research areas in the department along with affiliated researchers.


Cancer genetics

Research in cancer genetics focus on identifying new cancer genes and the related cancer syndromes. Our research projects focus on hereditary cancer syndromes in colorectal cancer and Lynch syndrome, melanoma, childhood cancer, breast cancer, gynecological cancers and hereditary breast-ovarian cancer, and hematological cancers.

In addition, research projects are ongoing on somatic mutations, cytogenetic abnormalities and their clinical impact in hematological malignancies.

Researchers and publications


Eye disorders

Eye disorders can affect any part of the eye, as e.g. diseases of the retina, optic nerve, lens, iris and cornea, and genetic factors are important. More than 500 genes are involved in eye diseases. The research at the department focus on the molecular genetics of eye disorders such as retinal dystrophies, albinism, opticus atrophy and malformations including microphthalmia with the aim of identifying disease causing mutations, in order to provide a basis for personalized medicine- better counselling and treatment, ultimately to prevent low vision and blindness. The retina is a window to the brain, and provides a major part of the sensory input to the brain. Hereditary retinal dystrophies are a broad group of genetic retinal disorders, and it is the major cause of visual impairment in children and young people in the western world. The photoreceptors play a pivotal role in development and function of the retina. We aim to identify the underlying genetic causes of retinal dystrophies, and in order to clarify the pathogenesis of variants identified in genes we are going to develop induced pluripotent stem cells, an area that can lead to new treatments.

Researchers and publications


Hearing disorders

Non-syndromic deafness and severe hearing impairment is the most common sensory impairment in humans. Furthermore, a genetic origin can be ascribed to more than half of all congenital and early hearing impairment cases. About 1-2 in 1000 children are born with severe hearing impairment or will develop it early, and throughout adolescence, the prevalence of hearing loss increases markedly. Remarkably, >200 genes have been estimated to underlie non-syndromic hearing loss. However, despite progress in the field, >100 of these “hearing impairment genes” remain unknown and most patients lack a molecular-genetic diagnosis. In addition to the non-syndromic forms of inherited hearing impairment, there are at least 400 clinically distinct forms of syndromic deafness, several for which the underlying gene remains to be discovered.

Our research focuses on discovery of novel “hearing impairment  genes”, genotype-phenotype correlations and mechanisms for hearing impairment. The research also has a long track record with focus on syndromic types, especially those with additional visual impairment (deaf blindness) and associated multi organ affection. The projects have the highest clinical relevance for people suffering from hearing impairment: thus, the identified novel hearing impairment genes/mechanisms will be included in routine diagnostic to provide precise molecular diagnosis allowing for better prognosis and counselling of people with hearing loss. Finally, “hearing impairment gene” discovery may pin-point new molecular targets and avenues for development of future therapies. Advanced sequencing strategies have revealed precise molecular genetic etiology of syndromic cases, underlining the application of these techniques in the large fraction of patients with severe hearing impairment where the primary search for mutations in GJB2 and SLC26A4 genes have remained negative. We foresee a significant increase from 20% to 45% in diagnostic yield by implementing results from research.

Researchers and publications

Imprinting disorders and epigenetics

Imprinted genes are genes that show mono-allelic expression depending on the parent of origin. An example is IGF2 which is only expressed from the paternal allele. Approximately 100 imprinted genes are known, but since imprinting is both time and tissue dependent, this number could very well be higher. The imprint is often addition of a methyl group to the DNA (CH3-CpG). Imprinting disorders (ID) affect growth, development and metabolism with a lifelong impact on patient’s life quality. Imprinting disorders are caused by alterations in expression of imprinted genes. This can be due to deletions, duplications, uniparental disomy, intragenic pathogenic variations in imprinted genes or in imprinting centers, or isolated methylation defects. Ten IDs are known at present, including Beckwith-Wiedemann syndrome (BWS) and Silver-Russel syndrome (SRS) which can be considered “opposite” disorders both genetically and clinically. BWS is an overgrowth syndrome while SRS is characterized by growth restriction. Both disorders can be caused by alterations of expression of genes in the region 11p15. Our research focus is on elucidating new genes and genetic mechanisms causing BWS and SRS.

Our group is part of a consortium working on imprinting disorders,, European Network for Human Congenital Imprinting Disorders

Researchers and publications


Inborn errors of metabolism

Inborn errors of metabolism (IEM) are inherited diseases caused by disturbances in key steps in human metabolic pathways, such as enzyme deficiencies, defective transporters, defective subcellular targeting etc. Enzyme deficiencies are most common and also the most common monogenic disorders. IEM are managed in Centre for Inherited Metabolic Diseases. The centre has national coverage and IEM are represented, such as amino acidopathies, incl. PKU, organic acidurias, fat oxidation disorders, lysosomal storage diseases and neurometabolic diseases.

From a research point of view, we aim to optimize and develop new biochemical as well as molecular-genetic diagnostics and monitoring tools, improve neonatal screening, improve national and European registration of patients and develop guidelines for diagnosis and management. Finally we aim to develop new therapies for IEM, both as part of EU projects and as clinical trials for new orphan medicinal products in our clinical trial unit for rare diseases.

Researchers and publications

Neurodevelopmental disorders

Neurodevelopmental disorders are a group of conditions affecting the brain or central nervous system and with onset in the developmental period. These conditions include intellectual disabilities (IDD) and autism spectrum disorders (ASD). Neurodevelopmental disorders frequently co-occur with other neurodevelopmental or neuropsychiatric disorders.

Developmental delay and Intellectual disability (DD and IDD) are common disorders that negatively affect the trajectory of the individual’s physical, intellectual, and/or behavioural/emotional development. These disorders can occur alone (isolated) or be part of a syndrome where multiple organs or systems are involved. They may be present at birth, but may not always be observed immediately in the newborn. A multitude of different genetic/genomic conditions may lead to IDD. The causes can be chromosomal, monogenic or multifactorial, or exogenic, but in a considerable proportion of cases no definite etiological factor can be demonstrated. This calls for intensive research.  In our department we aim to elucidate the underlying genetic defects in IDDs using several different approaches. 

Researchers and publications


Neurological/neuropsychiatric disorders

Neurogenetics is a complex and extensive field spanning a wide range of disorders in adult and pediatric neurology. These include monogenic neurodegenerative and neuromuscular disorders as well as neurological disorders with complex etiology, including Gilles de la Tourette syndrome (GTS). 

At the Department of Clinical Genetics we perform clinical genetic counselling and molecular genetic testing for a wide variety of neurogenetic disorders. We have a well established collaboration with our colleagues in clinical neurology, neuropediatrics and neuroradiology and participate in research projects aiming at further characterizing the molecular background as well as clinical aspects of inherited neurological disorders.

Furthermore, we conduct research in identifying the underlying etiology of complex neurogenic/neuropsychiatric disorders, such as GTS. Our group is part of a consortium working on GTS, TS-EUROTRAIN.  

Researchers and publications


Mitochondrial disorders

Mitochondrial disorders are the only group of diseases where two genomes, the nuclear and mitochondrial genomes, are involved.  The disorders may affect both children and adults and lead to a wide range of symptoms.

The Department is involved in the clinical, biochemical and genetic diagnoses of mitochondrial disorders. Our research focuses on delineation of clinical phenotypes, genotype-phenotype correlations and identification of novel disease genes in mitochondrial disorders

Researchers and publications

Molecular Genetics and Cytogenetics – NGS

The Department has a comprehensive laboratory activity, with a variety of specialized diagnostic assays for a broad range of medical indications. As an inherent part of the diagnostic activity we continuously develop and implement new technologies and diagnostic approaches with a constant focus on performance and quality, to support state-of-the-art patient care. These activities range from classic cytogenetics and Sanger-sequencing, to NGS-based analysis such as whole exome sequencing (WES), non-invasive prenatal testing (NIPT) and gene-panels for a large number of genetic disorders. In this aspect, we have various research projects to evaluate the importance of variants of unknown significance (VUS) in disease pathogenesis.

Researchers and publications

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