Genomics of Disease

Module Organisers

Kate Baker (Kate.Baker@mrc-cbu.cam.ac.uk)

Please feel free to contact Kate if you have questions about the GGD module.

Introduction

In recent years, radical progress has been made in genomic technologies, and we have an ever-increasing understanding of genomic contributions to health and disease across the lifespan.

Genomic diagnostics are now routinely implemented in clinical care. This has led to the rapid discovery of many previously unknown rare conditions, new insights into mechanisms of disease, and opportunities for targeted therapies and pro-active management to improve medical outcomes and quality of life.

However, there remain major challenges within genomic medicine such as interpreting variant pathogenicity, integrating rare and common variation, understanding penetrance and phenotypic heterogeneity, routine genomic screening and translating genomic diagnosis into effective personalised medicine. 

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The Course 

The Genomics of Disease module addresses progress, challenge and opportunity within genomic medicine.

Lectures will focus on recent discoveries and debates at the interface between fundamental biology, clinical research and healthcare implementation.

Lecturers will discuss current hot topics and new horizons, providing insights into research opportunities and clinical applications, relevant to medical and natural sciences students.

Topics include:

  • Genomic diagnostic technologies.
  • New approaches to variant interpretation.
  • Pathophysiology of rare genomic conditions.
  • Polygenic influences on health and disease.
  • Benefits versus harms of routine genomic screening.
  • Gene therapies and personalised medicine.

Research Projects 

There are a wide range of potential research projects offered within the Genomics of Disease module.

These include bioinformatics projects, integrative data science projects and bench-based experimental projects.

Projects may be located within the Department of Pathology, or may be offered by other departments, e.g. Laboratory of Molecular Biology, Department of Genomic Medicine, Veterinary School and Cambridge Institute for Medical Research. 

Please contact the module coordinator to discuss your interests and options. 

Examples of Previous Research Projects

  • Direct sequencing of circulating microRNAs Using Nanopores.
  • Exploration of alternative-splicing in Squamous Cell Carcinoma with next-generation sequencing.
  • Genetic predictors of phenotype variability within synaptic vesicle cycling disorders
  • BAF complex regulatory mechanisms and neurodevelopmental disorders
  • Mechanisms of paediatric mitochondrial disease

Examples of Previous Dissertations

  • Delivery of microRNAs as potential cancer therapeutics.
  • Preventing Medical Fraud in the Age of Advanced Healthcare: An Examination of Current Practices and Future Solutions.
  • Computational approaches to analysing microRNA function in Cancer.
  • Advancements in Nucleic Acid Therapies for Cancer Treatment
  • Understanding and harnessing genetic mechanisms in type 1 diabetes