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
Translational research has shown the benefits of using a community-focussed approach to healthcare. This course shares these benefits and raises awareness of community genetics as a field of medicine. Amish communities and families affected by inherited disorders are given as an example.
On this course, you will explore the skills needed for translational research work and understand the meaning of community genetics. You will also learn the value of whole genome sequencing in the community context and the importance of community-specific medical research to patients.
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
This course is for research teams, clinicians and allied health and special educational needs workers and diagnostic facilities that work with families affected by inherited diseases.