The University of Southampton

MEDI6125 Genomics of Common and Rare Inherited Diseases

Module Overview

This module will initially explore the clinical presentation and course of a range of common and rare inherited diseases. The principles and practice of medical genetics, and the management and treatment of probands and their families will be discussed. In addition, the role of genomics in a care pathway will be examined including the patient and family perspective. The students will then learn about the Genomics England 100,000 Genomes Project and through practical examples learn how to select cases with unmet diagnostic need that will benefit from exome or whole genome sequencing. Students will further explore the analytical challenges in genomics as applied to rare inherited diseases. This MSc module will explore the traditional and current approaches used to identify genes responsible for common and rare inherited diseases, focusing on the latter.

Aims and Objectives

Module Aims

The number of rare monogenic disorders is estimated to be greater than 7,000, but only in approximately half of these are the underlying genes known. Common diseases such as intellectual disability, diabetes, schizophrenia and autism are thought to arise from a complex interplay of genetic and environmental factors but deeper understanding of the genetic and mechanistic basis of these diseases is necessary for clinical translation. The aim of this module is to provide a brief introduction to the clinical presentation and manifestations of rare inherited and common diseases and consider the patient and family perspective with respect to the role and impact of genomics. The module will also offer a comprehensive overview of the traditional and current strategies and techniques used to identify genes responsible for both common multifactorial and rare inherited diseases, focusing mainly on the latter. Students will learn how to identify disease phenotypes and how to select cases with unmet diagnostic need that will benefit from either exome or whole genome sequencing.

Learning Outcomes

Learning Outcomes

Having successfully completed this module you will be able to:

  • Examine the landscape of common and rare inherited diseases
  • Explain the genetic architecture of common and rare inherited diseases
  • Critically evaluate traditional and current approaches used to identify genes for common and rare inherited diseases
  • Synthesise information gained from exome / whole genome analysis with patient information / medical records to determine diagnosis, penetrance or prognosis for a number of examples of common and rare inherited conditions
  • 5Correlate genetic markers to phenotype and interpret output of association studies both for dichotomous and quantitative traits
  • Identify phenotype, select cases and relevant family information for whole exome or whole genome based approaches for hypothesis free whole exome or whole genome sequencing


• Clinical presentation and course of a range of rare inherited and common diseases • Principles and practice of medical genetics; risk stratification and management of patients and their families • Approaches and techniques used to identify genes responsible for common and rare inherited diseases (e.g. candidate gene, positional mapping, genome wide association studies, exome / whole genome sequencing, use of population data sets) • Basic statistics to aid interpretation of Genome Wide Associated Studies (GWAS) and analysis of populations, and interpretation of output of these studies • Selection of tractable cases with unmet diagnostic need suitable for whole genome analysis • Analytical challenges in genomics as applied to rare inherited diseases including: - the potential of electronic health records to enrich patient data - importance of phenotyping and use of databases such as ClinVar - use of large population datasets - sharing information e.g. Human Variome Project

Special Features

The module will be taught by an international faculty, at the forefront of their respective academic disciplines and professions. Adult learning methods will be used throughout and an emphasis placed upon interactive learning, practical demonstration and the interpretation of clinical scenarios to reinforce learning. Extensive e-learning facilities will be available to foster independent study.

Learning and Teaching

Teaching and learning methods

The module will comprise two blocks of two days' intensive on-site teaching, each followed by approximately three weeks of independent study. A variety of learning and teaching methods will be adopted to promote a wide range of skills and meet the differing learning styles of the group. The on-site teaching will include seminars, practical demonstrations, discussions and exercises surrounding interpretation of data and clinical scenarios, and specialist lectures given by a range of academic and health care professionals. This will ensure a breadth and depth of perspective, giving a good balance between background theories and principles and practical experience. Off-site independent learning will take place on the virtual learning environment hosted by the UoS and mounted on Blackboard. An online 'campus' for e-learning will include: • a library of e-books and papers available for study, • links to online tutorials, • all lectures that are recorded onsite using Panopto software and uploaded, • an online student forum, • access to tutors online (e.g. through fora and email), • 'guest lectures' delivered by field leaders supplemented with webchats, • virtual patients with designated tasks and self-assessment and feedback • online submission, marking and feedback for relevant assessments

Independent Study122
Total study time150

Resources & Reading list

Broad Institute.

Strachan, T., Goodship, J. and Chinnery, P.. Genetics & Genomics in Medicine. 

Farndon, P. (2008). Taking and recording a genetic family history. InnovAiT. ,1 , pp. 554 – 560.

Deciphering Developmental Disorders.

Garland Science. 

Exome Variant Server.


One Thousand Genomes.

Genomics England.


Assessment Strategy

The assessment for the module provides you with the opportunity to demonstrate achievement of the learning outcomes. There will be two components to the assessment i) Written examination, and ii) 2000 written assignment. The pass mark for the module and all assessed components is 50%. If you do not achieve the pass mark on this module by achieving 50% or more in all components, you may still pass by compensation. To do this, you must achieve a qualifying mark of 40% on each assessed component. Each of the component marks is then combined, using the appropriate weighting, to give an overall mark for the module. If this overall mark is greater than or equal to 50% you will have passed the module. If your overall mark is less than 50% when the weighting has been applied to the components, you will have failed the module. If you have not achieved 40% or more on all components, you cannot use compensation and have failed the module. If you have failed the module, you will have the opportunity to submit work at the next referral (re-sit) opportunity using the method outlined below. You must achieve the pass mark in all referred components. On passing your referrals, your final module mark will be capped at 50%.


MethodPercentage contribution
Written assignment  (2000 words) 30%
Written exam  (2 hours) 70%


MethodPercentage contribution
Written exam  (2 hours) 100%

Repeat Information

Repeat type: Internal & External

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