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Medical Genetics (MEDGEN)
Lifecycle:1 Oct 2003 → Today
Organisation profile:The research group concentrates on 3 major topics: the development of hereditary bone tumors, the genetics of Adams-Oliver syndrome and the development of new molecular diagnostic tests for hereditary disorders. 1) Development of hereditary bone tumors (multiple osteochondromas). Osteochondromas are the most frequent hereditary bone tumors in children. Multiple osteochondromas (MO) is an autosomal dominant disorder charakterized by many osteochondromas. MO is caused by mutations in the EXT1 and EXT2 tumor suppressor genes. This research line concentrates on the clinical and molecular aspects of MO and the pathways involved in this disorder. 2) Identification of genes responsible for Adams-Oliver syndrome.Adams-Oliver syndrome is a hereditary disorder characterized by terminal limb defects, aplasia cutis and skull defects. Both autosomal dominant and recessive forms have been described but the genetic cause remains unknown. This project aims the identification of genes responsible for this disorder. 3) Development of molecular diagnostic tests.The field of human genetics is a fast evolving field with a constant identification of new disease genes and the introduction of new technologies. This research line aims the development and validation of new diagnostic tests to be introduced in diagnostic molecular labs.
Keywords:BIOCHEMISTRY, GENETICS, GENE ANALYSIS, MOLECULAR DIAGNOSTICS
Disciplines:Genetics, Systems biology, Molecular and cell biology, Orthopaedics