In Human Genetics and Molecular Genetics, research aims to understand the ways in which variation in genes contributes to human traits and disorders. Both approaches are a focus of considerable research effort worldwide and this field garners a lot of interest from medical practitioners and public alike. Students taking this option will be exposed to examples of cutting-edge approaches in modern molecular genetics and post-genome science taught by active researchers and practitioners. 

This option is assigned to block S1-Y. There will normally be one or two sessions of between 1 and 3 hours each on a Friday. 

None

The course will be assessed by a 2-hour examination (70%) and in-course assessment (30%), both of which will comprise a mixture of problem questions and mini-essay questions. The in-course assessment will comprise a single component and will be delivered either as a take-home assessment or as a timed test with preparation allowed beforehand. 

The aims of this course are to foster: 

■ understanding of the principles underlying human genetics and their application in modern approaches to studying genetic disorders and traits;

■ awareness of the impact of genetics on human lives.

By the end of this course, students will be able to:

■ Discuss and critically appraise the current state of understanding of relevant topics in the field of human genetics and human molecular genetics, with specific focus on:

■ Data interpretation;

■ Human genomic variation and how it relates to the genetic basis for a range of human traits and disorders;

■ Models of human genetic disease;

■ Genetics in the clinic and in society and therapeutic options for genetic disorders; 

■ Use the scientific literature to evaluate evidence supporting hypotheses in the field of human genetics;

■ Critically discuss, evaluate and analyse data including that of a numerical and statistical nature.