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Human molecular genetics
Main organisation:Department of Biomedical Sciences
Lifecycle:1 Oct 2003 → Today
Organisation profile:The main research interest lies in the field of sensory genetics. Although work is done for different forms of sensory diseases, the emphasis is on nonsyndromic sensorineural hearing impairment and otosclerosis. Large families are collected in Belgium and The Netherlands, as well as in countries with high consanguinity rate such as Iran. These pedigrees are analyzed by linkage analysis. Subsequently, the genes involved are identified by positional cloning. The laboratory was able to localize a large number of deafness genes, and to identify several of them. Also complex genetic forms of hearing impairment are being analyzed, including age-related hearing impairment, noise-induced hearing impairment and otosclerosis. The laboratory has built substantial expertise in this field, and has collected large patient and family collections. The laboratory has been the first to identify genes that are associated with these three complex forms of hearing impairment. Some of the genes that were identified are being studied functionally, and mouse models are made for further analysis. One gene in particular, DFNA5, is being studied in detail. This gene is responsible for autosomal dominant hearing impairment, but is also an important tumor suppressor gene inactivated in various frequent forms of cancer.
Keywords:LINKAGE ANALYSIS, HEREDITARY DEAFNESS, GENE IDENTIFICATION, GENETICS, MOUSE MODELS
Disciplines:Genetics, Systems biology, Molecular and cell biology, Orthopaedics, Otorhinolaryngology, Speech, language and hearing sciences