Summary 



This module is focussed on understanding how we use clinical and molecular genomic methods to understand the genetic and molecular basis of inherited diseases, especially rare children’s diseases, with a view to developing better disease management, treatments and cures. There is an introductory day where you have a refresher and are expected to develop a working knowledge of DNA structure and function, chromosomes, disease inheritance patterns and current methodologies to screen for and identify genetic defects. You will gain insight into how clinical genetics services are organized in the UK and of recent advances in molecular medicine and genetics and their impact upon everyday clinical practice. You will be exposed to a number of current disease examples to look at their disease mechanisms, current research and disease modelling advances, their genetic management and new or future planned genetic therapies. You will thereby gain an understanding of the molecular basis of paediatric genetic disorders, the special challenges of rare diseases and why we are interested in them. We will also have an ethical debate. The technologies described include next generation sequencing sequence analysis, cytogenetics, molecular and prenatal diagnostics, molecular genetic and genomic research tools and genetic therapy approaches. Lectures will allow you to increase your understanding of human genetics diseases, how we can investigate these in the era of human ‘omics’ and genetic medicine, the types of vitro/vivo model systems available for research, and how molecular and genetic technologies can lead to new treatment options and a range of gene-based therapeutics.



Learning Objectives and Outcomes 



After taking this module, you will be able to: 

Develop a working knowledge of DNA structure and function, chromosomes, disease inheritance patterns and methodologies to screen for and identify genetic defects.
 Gain an understanding of the difference between the molecular basis of rare and common paediatric genetic disorders.
 Increase your understanding of recent advances in molecular medicine and genetics and their impact upon everyday clinical practice.
 Appreciate how molecular and genetic technologies can lead to new treatment options.
Who is this module for? 



A basic level of understanding of human genetics and inherited diseases is required. You should also have an interest in this area from either the biological or clinical perspective. This is a core module for the MSc Paediatrics and Child Health: Molecular and Genomic Paediatrics.



Teaching and Learning Methods 



This module will be delivered by lectures, practical sessions (currently provided online), pre-course learning (MCQs and pre-recorded lectures) and self-directed learning (electronic tutorial and readings).



Assessment 



The assessment for this module is a 3,000 word essay



Selected Reading List 



New Clinical Genetics, 3rd Edition; Andrew Read & Dian Donnai: Scion Publishing Ltd 2015.



Emery’s Elements of Medical Genetics, 14th Edition; Peter Turnpenny and Sian Ellard: Churchill Livingstone 2011.



Human Molecular Genetics, 4th Edition; Tom Strachan & Andrew Read: Garland Science 2010.



Online tests such as http://medgen.genetics.utah.edu/index.html