Partners

Participant 8

University of Tromsø

Partner 8:
Department of Medical Genetics, Institute of Clinical Medicine, University of Tromsø, N-9037 Tromsø, Norway.

Key skills:
Mutation analysis, molecular phenotyping and database construction.

Laboratory (clinical) background and technical information:
The Department of Medical Genetics is co-localized and has dual affiliation to the University Hospital of North-Norway and the Institute of Clinical Medicine at the University of Tromsø. The laboratory is equipped to provide genetic diagnostic services for the population of Northern-Norway, which include DNA diagnostics for some 40 different genetic disorders, as well as cytogenetic analyses. The department provides routine facilities for handling, registration and storage of patient information, and patient material such as blood, fibroblast cells and DNA samples, according to the guidelines of the University Hospital of North-Norway. The laboratory is well equipped for the molecular diagnostics of genetic disorders providing equipment such as DNA extractors, PCR machines and instruments for automated DNA sequencing. Furthermore, the department is equipped for cell culturing, small scale proteomics and has access to an in-house bio-imaging service.

Capacity to contribute to the project:
Partner 8 offers genetic testing such as for alpha-Mannosidosis diagnosis confirmation, carrier analysis and prenatal testing. Mutant alleles containing missense mutations will be studied in detail with regard to enzyme activity, intracellular processing/transport and impact on MAN2B1 3 dimensional structure. Partner 8 has developed a relational, interactive and contextual alpha-Mannosidosis database (http://www.amamutdb.no) which harbors all relevant data on alpha-Mannosidosis patients and enables the significance of mutations to be understood and it allows the relationship of genotypes and phenotypes to be investigated. Partner 8 has a long standing experience as partner of FP5 and FP6 EU networks (EURAMAN/HUE-MAN).

Personnel involved:

Øivind Nilssen (PhD, M), Professor, has served as a group leader in the previous EURAMAN and HUE-MAN projects and has a long lasting expertise in the clinical molecular genetics and molecular biology of alpha-Mannosidosis. He will be involved in supervision, project administration and management of group leader activities
Hilde Monica FR Stensland (PhD, F), Senior Scientist was involved in EURAMAN and HUE-MAN and is experienced in the molecular diagnostics and phenotyping of alpha-Mannosidosis. She will be involved in supervising the diagnostics and systematizing the molecular data to be implemented in the database
Dag Malm (PhD, MD, M), Senior Consultant, is an MD with long standing experience in the clinical evaluation and classification of alpha-Mannosidosis cases. He participated in EURAMAN/HUEMAN and will serve as contact person for the further collection of clinical data and biological materia
Gabrio Frantzen, M, System developer, has participated in the HUE-MAN as a database programmer. He will serve as a key person with regard to data implementation as well as developing novel database applications.

Key publications:

Dag Malm and Øivind Nilssen (2008): Alpha-mannosidosis: Orphanet Journal of Rare Diseases 2008, 3:21
Gaute Hansen, Thomas Berg, Hilde M. F. Riise Stensland, Pirkko Heikenheimo, Helle Klenow, Gry Evjen, Øivind Nilssen and Ole K. Tollersrud (2004). Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis related mutants: Biochemical Journal, 15, 381: 537-546.
Thomas Berg, Hilde Monica Frostad Riise, Gaute M. Hansen, Dag Malm, Lisbeth Tranebjærg, Ole Kristian Tollersrud and Øivind Nilssen (1999). Spectrum of Mutations in a -Mannosidosis: American Journal of Human Genetics, 64, 77-88.
Øivind Nilssen, Thomas Berg, Hilde M. F. Riise, Umayal Ramachandran, Gry Evjen, Gaute M. Hansen, Dag Malm, Lisbeth Tranebjærg and Ole K. Tollersrud (1997). Alpha-mannosidosis: Functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum. Mol. Gen. 6, 717-726.