The main research areas of Nørremølle Group is Molecular genetics of inherited, neurodegenerative disorders, especially Huntington disease and investigations of genetic and cellular factors influencing the pathological mechanism and disease progression.
In the Nørremølle research group our goal is to understand the pathogenic mechanisms causing the cellular damage in inherited neurodegenerative disorders, with specific focus on Huntington disease. In this disease, despite a well-characterized disease-causing mutation, neither the physiological functions nor the mechanisms behind the pathological changes are known.
Right now we concentrate on investigating the metabolic changes observed in both neuronal and non-neuronal cell types in Huntington disease cell and animal models. We study mitochondrial function and oxidative stress in order to understand the importance of these processes in the disease, and aiming to characterize new targets for future treatment strategies.
In another line of research, we analyze the DNA sequence of the huntingtin gene region in Danish patients with Huntington disease, looking for DNA variants that modify the disease onset or progression. The rationale is that genes carrying these variants represent possible targets for treatment: modifying the modifiers.
In addition to our work in Huntington disease research we participate in collaborations investigating other inherited neurodegenerative disorders.
Basal DNA-techniques (PCR, DNA-sequencing, cloning etc.), basal RNA-techniques (p-PCR), protein analysis (western blotting), cell culture, in vitro expression (transfection, viral transduction), animal experiments.
Anne Nørremølle is course director of the course in Medical Genetics, offered to students of medicine as well as molecular biomedicine. This course runs twice a year with a total of 576 students per year. We aim to constantly develop the teaching methods and curriculum in order to optimize the student’s motivation and learning outcome. In addition, we offer a course in Gene Therapy for master level students of molecular biomedicine, biochemistry, biology and biotechnology. This course conveys up-to-date knowledge of a quickly developing field of research through original scientific papers and lectures from scientist in the field. Finally, the Nørremølle group has supervised numerous bachelor-, master- and Ph.D.-students, all of which have graduated with very good or excellent grades.
Nørremølle A, Budtz-Jørgensen E, Fenger K, Nielsen JE, Sørensen SA, Hasholt L. 4p16.3 haplotype modifying age at onset of Huntington disease. Clinical Genetics 2009 Mar;75(3):244-50.
The Danish HD Register is at the Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen.
The register is nationwide and was started in 1970 by Sven Asger Sørensen and Kirsten Fenger based on data originally collected by Dr. Sigurd Petersen (born 17.04.1902) in the early 1940s.
By 2001 the Register comprises 318 families with a total of 10615 individuals.
There are 1390 affected individuals and 2991 individuals with an a priori risk of 50% among which 219 and 1218, respectively, are alive.
Many of the families have been traced back to the beginning of the 19th century, the largest one containing 774 individuals. Both affected individuals and persons with a Mendelian risk greater than 12.5% are registered.
Most of the families registered are of Danish origin, but we also have families which originates from Norway, Sweden, England, Holland, and the US.
The register is in current use for genetic counselling and research.
In close connection with the HD register we have a DNA bank which contains samples collected for research and for diagnostic purposes.
All diagnostic, presymptomatic, and prenatal analyses for HD (and other CAG-repeat disorders) in Denmark are done in our laboratory.
The register is a closed register, i.e. only a limited number of persons have admission to it, and all data are confidential.
Both the register and the DNA bank have been approved by Registertilsynet , the Scientific Ethical Comittee, and the Danish Huntington League Association.
(+45) 35 32 74 97
CV, publications, etc.