Certificate of Achievement
has completed the following course:
This course explored the impact of genomic research on patients and families, the scientific principles underpinning translational research, the processes of designing and performing translational research, and the wide range of community, scientific and global benefits that research can bring. Learners were asked to identify inheritance patterns, draw clinical pedigrees, and design their own research project.
3 weeks, 3 hours per week
Professor Andrew Crosby
Professor of Human Genetics
University of Exeter
Dr Emma Baple
Clinical Senior Lecturer (Genomic Medicine)
University of Exeter
- Describe what a translational research project looks like
- Describe examples of rare inherited diseases and their genetic basis
- Develop an understanding of what is meant by the term “Community Genetics"
- Describe current approaches used to identify new genes for rare monogenic recessive diseases within communities
- Design approaches for undertaking translational genomic research in a community setting
- Reflect on the importance of understanding a patient’s ethnicity, family history and their culture, beliefs and practices in formulating a differential diagnosis
- Describe the value of whole genome sequencing in reaching a specific diagnosis for aiding the clinical management of patients with inherited disease
- Identify patients with rare inherited disease for whom genomic research studies would be appropriate
- Identify the mechanisms for translating research findings into direct benefits for communities and patients worldwide
- Develop an understanding of the unique scientific insights provided by the study of rare monogenic disease
- A range of rare inherited diseases, and their genetic basis
- What we mean by the term ‘Community Genetics’
- Mechanisms and methodology for investigating the genetic basis of rare diseases in a community setting
- The use of whole genome analysis in the clinical management of patients within a community setting
- The importance of understanding a patient’s ethnicity, family history and cultural beliefs and practices, in formulating a differential diagnosis and for ensuring equality of health care and special educational needs provision
- Mechanisms for dissemination of research findings to ensure maximum community, and international, impact and benefits
Issued on 25th November 2019
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