Mental Retardation: From Clinic to Gene and Back

The aim of this course is to provide a structured review and update on the genetic basis of mental retardation (MR).

MR is a prominent feature in a large and heterogeneous set of hereditary conditions. In recent years, many genes have been identified as the cause of these disorders, leading to new possibilities of diagnosis and to a redefinition of their clinical classification: many entities previously thought to be distinct can now be grouped together, since they were found to be associated to mutations in the same gene. These genetic findings also provide very relevant information concerning the biological basis of normal intellectual function, and open new perspectives for research in the neurobiology of mental disorders.

In the first day of the course, our goal is to level the course participants regarding the clinical and genetic concepts that we think are basic for the full comprehension of the subject. This will be done through a combination of lectures and exercise solving (Examples: how to recognize dysmorphisms, how to identify inheritance patterns, how to interpret the results of molecular genetic testing).

Days 2 to 4 will be dedicated to the discussion of the three main groups of genetic causes of mental retardation: malformation syndromes, predominantly neuromuscular disorders and metabolic diseases. In each of these themes, the clinical and genetic classification and approach to diagnosis will be addressed (“How to investigate an MR case of this type?”), and two or three examples of diseases in which the advances in molecular genetics and functional genomics have shed light into pathogenesis (“success stories”) will be presented, and discussed in the journal club format. These examples will include the study of animal models of disease and gene or enzyme replacement therapies if available.

The last day will be devoted to the more recent advances in the genetic methodologies that may contribute for a rapid improvement in MR diagnosis, such as microarrays and CGH arrays, as well as 3D analysis of facial morphology. The students will also be introduced to useful online databases such as Human Phenotype Ontology, OMIM, Decipher, GENETESTS and ORPHANET.

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