GENETIC STUDIES OF MENTAL RETARDATION

Many common disorders affecting a large proportion of the population, with a frequency around few percent are very often highly heterogeneous. Diagnosis is very difficult. We have started some years ago a study of two disorders of this kind: mental retardation and premature ovarian failure. When few years ago, we have identified one of the genes for MR we have realized that it is responsible for a very limited number of cases and that many more should be found in order to be able to provide a good diagnosis to the families. The study of the role of the gene, named GDI1, will suggest other possible genes responsible for this disease and eventually lead to a set of possible causes that could be studied at the same time in all patients using the new technologies of high throughput analysis.