Neurogenetics

With the mapping of the Human Genome, Neurogenetic research and its application to clinical neurological disease has exploded, so that every major neurological journal has several articles each issue encompassing this subject. The practicing neurologist today must have a fundamental grasp of molecular genetics as well as expertise as regards the various genetic neurological diseases, genetic counseling and the availability and rational use of genetic testing.

In our residency program you will be exposed to proper interview techniques for establishing pedigrees as well as examination essentials for the diagnosis of both the “single gene” and polygenetic diseases. Basic science seminars and clinical presentations will encompass the various aspects of molecular genetics including DNA/RNA interaction, transcription and translation, mutation types, and exon/intron interaction. Rounds and clinics at our two associated developmental facilities ( Northwest and Pinecrest) will involve the care of, and thus familiarity with, specific genotypic phenotypes (e.g. the phakomatoses and the various chromosomal duplication/deletion syndromes). Genetic involvement observed in many primarily “non-genetic” diseases such as the gliomas, migraine, and epilepsy will also be explored. The rational approach to genetic testing not only for specific mutations “causing” specific diseases, but also the interpretation/validity of “at risk” genotypes will be studied.

Presently, members of this department and collaborating basic science departments are involved in gene expression and genetic correlational research studying autoimmune diseases affecting the CNS. In collaboration with the Institute of Neurology at Queen Square, London, the genetics of familial epilepsy syndromes are under investigation. Residents can spend elective time in these research undertakings; and for those with academic aspirations, a PhD program could be integrated via our collaborating basic science departments.