UCL Queen Square Institute of Neurology


Short course in Advanced Genetic Technologies and their Clinical Applications

Module Convenors: Dr ROBERT pitceathly

This short course gives an introduction to genetic testing and research technologies from classic Sanger sequencing to next generation sequencing and genome wide association studies. These methods are crucial for understanding the potential and significance of genetic research into neuromuscular diseases, over 60% of which are hereditary diseases. The course will also give attendants the opportunity to acquire the knowledge to understand the uses and limitations of new cutting edge genetic technologies. We also give considerations to how and which gene therapy approaches can lead to clinical applications. Our course participants will also have an introduction into ethical considerations in the context of genetic research and genetic counselling. As part of this course, participants will take part in a grant writing exercise in which they receive guidance on how to establish research ideas and how to put these ideas forward in the form of a grant application. Our aim with this workshop is to equip our participants with applicable practical help for scientific writing in general and grant writing more specifically. 

This course will next take place: TBC

Learning outcomes

By the end of this course participants will understand the different genetic research methods from Sanger sequencing to next generation sequencing. Course participants will develop a critical understanding of limitations and the potential of these techniques in 21st century clinical research. Our course attendees will also be able to understand strengths and weaknesses of different genetic tests, the use of induced pluripotent stem cells and other genetic manipulations and their suitability for research and clinical practice.

Grant writing exercise 

Within the frame of the Advanced Genetic Technologies course, participants have an opportunity to get acquainted with the process of competitive grant application - a fundamental process to fund and maintain clinical and basic research activity. Most of our participants will become active researchers who at some point in their career will rely on grant funding to conduct their research. In this exercise guidance and general advice is given about various aspects of grant writing and participants who choose to complete the assessments will submit a grant proposal as coursework.

Examples of lecture topics
  • Patient-derived stem cells (Selina Wray)
  • Gene therapy- the use of antisense oligonucleotides (Haiyan Zhou)
  • Mouse genetics (Elizabeth Fisher)
  • Future of Genetics (John Hardy)
  • Genetic counselling (Liz Redmond)
  • Informatics in next generation sequencing