electiveHQ

This module covers advanced topics in the genetics of human disease. It is strongly recommended that students have taken GENE30030 Genetic Basis of Disease, or other modules with similar learning outcomes. Topics covered will include the molecular genetics of selected disorders, including mendelian and rare genetic disorders such as Sickle Cell Anemia and Rubinstein Taybi syndrome. Recent advances in identifying polymorphisms associated with disease will be discussed. These include applications of next-generation sequencing, and the identification of variants associated with disease. Medical genetics approaches that involve genetic information in clinical treatment regimens will be detailed. Genetics and epigenetics role in cancer onset and treatment will be described. The course will include an applied aspect, and students will learn how to interrogate large-scale genetic databases such as the Cancer Dependency Map (DEPMAP).