Research projects

The Danish Mole Project

Gestational Trophoblastic Diseases: Basic research, method development, diagnostics & treatment.

Project: Proteomics and Gestational Trophoblastic Disease

Researchers: Cathrine Linnea Hegtmann & Lone Sunde

Collaborators: Research Unit for Molecular Medicine, Aarhus UH; Dept. of Health Science and Technology, Aalborg University; & Boston Children’s Hospital

Project: FISH for Ploidy

Researchers: Cathrine Sylvester Jensen, Cathrine Linnea Hegtmann & Lone Sunde

Collaborators: Dept. of Pathology, Aalborg UH

Project: Mosaics/Chimeras: Morphology and genetics

Researchers: Lone Sunde

Collaborators: Dept. of Pathology, Aalborg UH & Centre Hospitalier Lyon Sud

Project: Genetics of Hydatidiform Mole and Personalized Monitoring

Researchers: Cathrine Sylvester Jensen & Lone Sunde

Collaborators: Dept. of Molecular Diagnostics & Dept. of Hematology, Aalborg UH & Imperial College London

Project: Gestational Trophoblastic Neoplasia: Registration and Risk

Researchers: Pernille Walbum Kristensen & Lone Sunde

Collaborators: Dept. of Oncology, Herlev Hospital & Dept. of Oncology, Aarhus University Hospital

Genetics in Relation to Endocrinology and Metabolism

How genetic disorders give rise to endocrine and metabolic phenotypes, with particular emphasis on mitochondrial diseases and abnormalities in bone metabolism

Project: Autonomic Neuropathy in Patients with Mitochondrial Disease

Researchers: Simone Rask Nielsen & Anja Lisbeth Frederiksen

Collaborators: Dept. of Gastroenterology (Mech-Sense) & Dept. of Molecular Diagnostics

Project: Phenotypic Characterization of m.10010T>C Mitochondrial Disease

Researchers: Jacob Mohr, Simone Rask Nielsen & Anja Lisbeth Frederiksen

Collaborators: Dept. of Clinical Genetics, Odense UH

Project: Extracellular Vesicles in Carriers of m.3243A>G Mitochondrial Disease

Researchers: Tom Frost, Simone Rask Nielsen & Anja Lisbeth Frederiksen

Collaborators: Dept. of Biochemistry, Aalborg UH and Dept. of Clinical Immunology, Aalborg UH

Project: Genomic and Epigenomic Modifiers of Bone Resorption in Monogenetic Osteopetrosis - GEM-Bone

Researchers: Anja Lisbeth Frederiksen

Collaborators: Dept. Clinical Genetics, Odense University Hospital (OUH), Dept. of Endocrinology, M, OUH and Molecular Endocrinology Department, OUH

Project: FDXR-associated disease in two patients.

Researchers: Janni Majgaard Jensen

Collaborators: Dept. of Clinical Genetics, Rigshospitalet, Dept. of Pediatrics Odense University Hospital, & Dept. of Pediatrics Aalborg UH

Rare Genetic Syndromes

Project: Phenotyping of patients with Warsaw Breakage Syndrome.

Researchers: Olivia Kaas Laursen, Line Phillipsen & Janni Majgaard Jensen

Collaborators: Dept. of Clinical Genetics, Odense University Hospital.

Project: T-cell abnormalities in patients with Roifman syndrome.

Researchers: Janni Majgaard Jensen

Collaborators: Dept. of Clinical Immunology and Clinical Genetics, Odense University Hospital.

Polygenic prediction and method development in complex trait genetics

Development of statistical methods and clinically applicable risk models based on polygenic scores. The focus is on how genomic data can be used to improve risk stratification and enable more precise disease prevention, diagnosis, and treatment.

Project: Methodological development and stratified use of polygenic scores in clinical genetics for breast cancer

Researchers: Palle Duun Rohde & Lone Sunde

Collaborators: Centre for Quantitative Genetics and Genomics, Aarhus University

Genetics of the Sensory System

Exploration of the genetic basis of sensory disorders, with a primary focus on inherited hearing loss. By integrating advanced genomic diagnostics with clinical data, the work seeks to enhance molecular diagnostic accuracy and refine genotype–phenotype correlations.

Project: Deciphering hereditary non-syndromic hearing impairment with novel genetic diagnostic approaches

Researchers: Sigrid Skovby Olsen, Anja Lisbeth Frederiksen, Allan Thomas Højland & Thomas Blauenfeldt

Collaborators: Dept. of Molecular Diagnostics, Aalborg UH & Danish National Genome Center

Project: Schwannomatosis in Denmark: Genetics and Clinical Aspects

Researchers: Cecilie Pape Madsen, Janni Majgaard Jensen & Lone Sunde

Collaborators: Dept. of Molecular Diagnostics and Dept. of Oto-rhino-laryngology, Aalborg UH

Placental and prenatal genetics

Registry-based and clinical studies aimed at improving diagnostics and counselling for pregnant couples. The focus is on feto-placental mosaicism and understanding biological mechanisms, the risk of fetal involvement, and pregnancy complications. 

Project: Placental mosaicism - risk of fetal involvement and pregnancy complications

Researcher: Simon Horsholt Thomsen

Collaborators: Project based at Center for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University and Department of Clinical Genetics, Aarhus University Hospital

Project: Placental mosaicism - distribution of abnormal cells and origins of complex chromosomal mosaicism

Researcher: Simon Horsholt Thomsen