Medical Genetics PATH3305

Description

Central dogma: DNA codes for RNA codes for protein Human variation in health and disease Disease gene identification Epigenetic variation Nature ad mechanism of Mutations in the genome Human cytogenomics Population genetics Detection of genetic Variation Next gen sequencing DNA Copy number variations Cytogenomics of cancer Phenotypic consequences of genomic variants Pharmacogenetics Genetic diagnostic strategies Newborn screening (Inborn errors of metabolism) Cardiovascular Disease (CVD) and Familial Hypercholesterolaemia Disorders of metabolism Molecular diagnosis and gene discovery Investigating Therapies for Neuromuscular diseases Mitochondrial genetics Psychiatric genetics