|Module Title||HUMAN GENETICS AND MEDICAL BIOCHEMISTRY|
|Co-ordinator||Dr Mustak Kaderbhai|
|Other staff||Dr Glynis Giddings, Professor Steven Kelly, Professor Neil Jones|
|Course delivery||Lecture||30 Hours|
|Assessment||Exam||3 Hours One 3-hour theory paper||100%|
|Resit assessment||3 Hours One 3-hour theory paper|
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. A general account of explanations for persistence of serious condition, including resistance to enterotoxic bacteria will be presented. Each of the following topics will deal with inherited disease in the remit of incidence, biochemical pathways and the abnormal gene(s) affected, clinical consequences, diagnosis and treatment. Galactosaemia and lactose metabolism; metal metabolism in Wilson's disease and Menkes disease; purines and pyrimidines synthesis in gout, Lesh-Nychan syndrome and hereditary xanthinuria with relevant emphasis in prenatal diagnosis and Ex vivo gene therapy; biogenesis of erythrocyte and metabolic capability reviewed in relation to haemoglobinopathies and evolution/organisation of globin gene superfamily; porphyrin biosynthesis and congenital erythropoetic pophyria; defects in lipid structures/synthesis in hypercholesterolemia, Tay Sachs and Gaucher diseases.
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.