These resources have been reviewed by a panel of consultants and trainees. Quotes have been provided by this panel.
Genomics in Practice: Obstetrics and Gynaecology
HEE Blog
3.1.1 A basic introduction to CRISPR and Genome editing
An excellent introduction to the CRISPR-Cas9 method for genome editing. This powerful technology has many applications in biomedical research and is now being considered for use in human genome editing.
3.1.2 Beyond CRISPR
A more detailed look at the workings of the CRISPR editing tool and the increasing possibilities for this remarkable discovery, for which the 2020 Nobel Prize in Chemistry was awarded to 2 women, Jennifer Doudna and Emmanuelle Charpentier.
3.1.3 Base editing: Can we cure genetic disease by rewriting DNA?
Chemical biologist David R. Liu, whose lab developed this breakthrough technology, provides an inspiring introduction to base editing. This takes the promise of CRISPR to the next level where individual bases can be altered bringing the promise of preventing or curing diseases caused by single gene mutations.
3.1.4 Next Generation Sequencing (NGS)
A detailed look at DNA sequencing explaining how modern DNA analysis is carried out. It covers Sanger sequencing, sequencing by synthesis (Illumina), nanopore sequencing (Oxford Nanopore), long read sequencing (Pacific Biosciences). This provides essential understanding for those in fetal medicine and preimplantation genetic testing, and cancer diagnosis and treatment.
3.1.5 Direct-to-consumer genetic testing
Direct-to-consumer genetic tests are being sold and used by an increasing number of individuals, whether for curiosity, or perceived medical need. The results provided often present a conundrum if they present with their results for your interpretation. This article (Horton et al 2019) provides an appropriate and useful look at the problem and how to deal with it.