Genome Research and Future Healthcare

Abstract

The last decade has seen many great successes of linkage analysis and positional cloning, now scaled up in the Human Genome Project. Paradigm changes in medical genetics have brought major progress in unraveling the etiology of most of the major genetic diseases (e.g. Duchenne, cystic fibrosis, Huntington disease, myotonic dystrophy, X-linked mental retardation) and hereditary cancer syndromes (e.g. retinoblastoma, neurofibromatosis, colon, skin and breast cancer). The genome project has enormously stimulated the development of advanced teclmology to characterize DNA and study genes. Consequently a spectacular rise has occurred in the identification of causes of genetic disease. Nearly all important, frequent diseases (about 100– 150), and a large number of rarer diseases have been traced back to their causally defective gene. In most cases (in total for ca. 1500–2000 genes) also the underlying mutations have been identified. The first, highly valuable spin-off has been the development of specific and reliable diagnostics, thus relieving insecurity and long and burdening diagnostic odysseys. A welcome development first and foremost for patients and their relatives, but also for their medical caretakers.