Aims

Content

A historical visit of Garrod's concept is followed by broad classification of inherited diseases including a detailed review of incidence across all areas of metabolism, nomenclature and most commonly inherited diseases. Each of the following topics will deal with inherited disease, in the remit of incidence, biochemical pathways and where applicable the abnormal gene(s) affected, clinical consequences, diagnosis and treatment. Galactosaemia and lactose metabolism; cystic fibrosis; purines and pyrimidines synthesis in gout and Lesh-Nychan syndrome; hereditary xanthinuria with relevant emphasis in prenatal diagnosis and ex vivo gene therapy; defects in lipid structures/synthesis in hypercholesterolemia; Tay Sachs and Gaucher diseases and related lysosomal disorders; diabetes; genetics and biochemistry of ethanol metabolism; molecular basis of prion infection; clinical aspects of nitric oxide.

There will be coverage of molecular diagnosis, genetic screening and counseling, prenatal diagnosis and potential gene therapy of human diseases, with particular reference to cystic fibrosis.

The immunogenetics section will introduce the structure and diversity of antibody production via somatic mutations, HLA and tissue grafts and blood groups.

The human perspectives of defects in molecular signaling will be exemplified in the case of the G-protein switch and receptor coupled signal transduction. Examples will include colour blindness (spectral sensitivity variations), combined precautious puberty, pseudohypothyroidism, oncognes, and nephritic diabetes insipidus.

The final part of the module will discuss broader issues in DNA fingerprinting (paternity test, forensic application and sex identification of unborn), the future of human gene therapy approaches, the merits of human genome programme and ethics pertaining to human genetics and society.

Notes

This module is at CQFW Level 5