Lis Frydenreich Hasholt

CV

Personal data Born May 22, 1945, Copenhagen, Denmark

Education and Degree Thesis, DMSc (dr.med.), University of Copenhagen. Title: "In vitro studier af Fabry's sygdom med henblik på enzymkorrektion" (1989) Graduated in Genetics, University of Copenhagen (1971)

Current position Associate professor at Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen.

Employment 1989-1993 Head of the Institute, Institute of Medical genetics 1975  Associate professor, Institute of Medical genetics
1971  Assistant professor, Institute of Medical genetics,   University of Copenhagen

Main research areas Genetic, molecular and biochemical investigations of hereditary disorders, particularly neurodegenerative diseases. Head of the group "Section of Neuro- genetics" founded in collaboration with associate professor S.A. Sørensen, 1990.

Scientific Supervision Supervisor for 13 Ph.D. students, Faculty of Health Sciences, University of Copenhagen, 1993-2003. Supervisor for 1 student awarded a gold prize, University of Copenhagen (topic: gene therapy).

Boards and Meetings 2001  Co-organizer of the 19. International Meeting of   the World Federation of Neurology Research Group on   Huntington's Disease, Copenhagen 1999  Member of the board of Danish Huntington's Disease   Asssociation (LHC) 1993-1997 Member of the board of Danish Society of Human Genetics

Primary fields of research

research

Main Research Areas

Molecular genetics of inherited, neurodegenerative disorders, especially Huntington Disease. Investigations of genetic and cellular factors influencing the pathological mechanism and disease progression.

Research profile and current research programme

The group is mainly studying basic molecular genetic, pre-clinical and clinical aspects of neurogenerative disorders including the possibilities of treatment of this group of disorders by gene therapy. The hereditary neurodegenerative disorders of interest are the trinucleotide repeat disorders with main focus on Huntington's disease and spinocerebellar ataxias, as well as the prion diseases, spastic paraplegia, and hereditary forms of Parkinson an Alzheimer diseases. The trinucleotide repeat diseases are characterized by a gain of function of the mutant form of the proteins leading to death of CNS neurons in areas specific for each disorder. Neither the physiological functions nor the pathological roles of the respective proteins are known; a straightforward strategy for prevention of the pathological processes leading to the symptoms would therefore be to stop or down-regulate the expression of the mutant protein. As a model, this group is studying the effect of antisense down-regulation of huntingtin, the protein involved in Huntington's disease.