Question: What are some of the new genetic technologies?

Gemma Chandratillake answered on 15 Mar 2018:

I’ll tell you about three things that I think are really exciting, especially when you consider the opportunities to use them together:
1) A new technology that is getting a lot of attention is CRISPR-Cas9: https://ghr.nlm.nih.gov/primer/genomicresearch/genomeediting. It is a new set of tools which make genetic engineering (making changes to DNA) much easier to do. There is a lot of hope that genetic engineering will be able to provide treatments for rare genetic diseases. Here are a couple of examples. This one uses a retrovirus to put a working copy of the disease gene into stem cells (this isn’t using the CRISPR-Cas9 system but shows the potential for genetic engineering for treating genetic diseases): http://www.sciencemag.org/news/2017/11/boy-rare-disease-gets-new-skin-thanks-gene-corrected-stem-cells. Here is an example using zinc fingers as the tools to do the genetic engineering (again, not CRISPR-Cas9, but showing the type of thing that can be done): http://www.sciencemag.org/news/2017/11/human-has-been-injected-gene-editing-tools-cure-his-disabling-disease-here-s-what-you. CRISPR-Cas9 just means that it will be easier for scientists to do these kinds of experiements and develop these kinds of therapies (it is a new technology, not a new approach).
2) Another big area of development is DNA sequencing technologies.:
a) it is because of the development of next-generation-sequencing technologies (mainly by a company called Illumina), that we are able to do so much more genetic sequencing now than we could before, because the price of sequencing DNA has fallen dramatically. When the human genome was first sequenced, in 2003, it cost around $3 billion to do it. Now, it costs less than $1000 to sequence a human genome. This means, for example, that it is affordable for patient care in the NHS, which changes everything. This is what has allowed the 100,000 genomes project (which I work on) to take place: https://www.genomicsengland.co.uk/
b) another very different type of sequencing technology is nanopore sequencing. In this case, the sequencing machine is tiny and portable (size of a USB stick) so can be taken out into the field. This type of technology is useful for monitoring outbreaks of infectious disease, for example: https://www.youtube.com/watch?v=Wq35ZXyayuU
3) The third thing worth mentioning is a bit older but still really revolutionary: induced pluripotent stem cells (https://www.eurostemcell.org/ips-cells-and-reprogramming-turn-any-cell-body-stem-cell). This is a technique that allows you to take a cell from an adult (say a skin cell) and turn it back into a general stem cell, then turn it into a different type of tissue (say cadiac muscle cells). Stem cells (the cells that grow and divide and make new tissue in our body) are few and far between in the body, and often inaccessible or difficult to find. If we want to grow tissue in the lab that is a genetic match to a patient, we need stem cells. This technology enables us to make them, and therefore to grow up different types of tissue. If we couple this with genetic engineering, it means that we can grow tissue in the lab from a patient with a genetic disease, correct the genetic mistake that is causing their disease, and then put this tissue back in their bodies, therefore treating their disease.
These three advances are really exciting for the rare disease community: there is potential to get a genetic diagnosis that many of them have been waiting for years for by genome sequencing, and then beyond that, there is finally some real potential for treatment.