BSc Biomedical Sciences with Entrepreneurship / Course details

You will be able to explain how human populations evolved using evidence supported by the fossil record as well as advances in sequencing technologies. You will form an understanding of human genome sequence diversity, and how different types of pathological sequence variations cause genetic disease. Topics include: human evolution, population migrations, population sequence diversity, evolution of genetic disease, analysis of genetic disease in population-based research, diagnosis of genetic disease, molecular basis of genetic disease, personalised medicine. The balance of topics in this unit is approximately 1/3 evolution, 2/3 genetic disease.

The study of human genetic complexity and disease is a rapidly expanding field driven by advances in new technologies which facilitate large-scale projects to catalogue human genetic variation. These large-scale sequencing projects have revealed support for our understanding of human evolution and population migrations based on the fossil record.  These studies have also revealed the extent of human genome sequence variations.  However, understanding the link between genetic variation and the resulting phenotype presents challenges, as is apparent from large-scale association studies. This unit will explore how studying human genome sequences can inform our understanding of genetic disease and evolution.

Students will be able to:

• Explain how human populations evolved using evidence supported by the fossil record as well as advances in sequencing technologies.
• Describe the types and frequency of sequence variants in human genomes
• Describe large-scale human genome sequencing projects
• Explain the use of association studies to find polygenic disease variants
• Explain the molecular pathology of monogenic genetic diseases
• Describe methods for diagnosing genetic diseases
• Explain how identifying sequence variants influences medical treatments
• Develop literature searching skills and use of publically available genetic databases for coursework.

• Introduction; course overview, assessments and feedback, human evolution and disease genetics, prior knowledge.
• Genome Sequencing and Human Evolution - comparisons between modern humans and extinct hominins, evidence of interbreeding and gene transfer.
• Archaeogenetics - the fossil record, Y chromosome and mitochondrial evolution, population migration.
• Analysis of genetic diversity in modern humans - sequence variation, copy number variation, large-scale population analysis.
• Dynamic mutations - trinucleotide repeat expansions and associated diseases.
• Molecular pathology of Mendelian diseases.
• Genetic imprinting and human diseases. Inheritance pattern of imprinted alleles.
• Copy-number variation - non-allelic homologous recombination, deletions and duplications.
• Chromosomal abnormalities and developmental diseases.
• Association studies and genetic basis of common diseases - multifactorial and polygenic diseases.
• Diagnosis of genetic disease - current methodologies.
• Population screening and pharmacogenetics; personalised medicine.
• Genetics Careers workshop.

Students will receive feedback on their understanding of the course material by the completion of a series of ePBL exercises including multiple choice questions and answer explanations. A bullet-point outline answer to a past exam question will be provided on Blackboard to support exam preparation.

• Jobling, Hurles, and Tyler-Smith. Human Evolutionary Genetics. Garland Science
• Strachan and Read. Human Molecular Genetics (4th Edition). Garland Science