How can genome editing be used to treat disease?

Genome editing is revolutionising biomedical research and the discovery of new medicines - read more in our FORUM policy report.

Editing the genome has never been easier, allowing us to understand the role of genes in biology and disease and laying the foundations for developing targeted medicines for genetic conditions. This powerful tool could help treat the 6% of the UK population who suffer from rare diseases, the majority of which are caused by harmful mutations in DNA.

In September 2019 we held our 2019 FORUM Annual Lecture on the topic of genome editing. Here, we share four of the key things we learned from our speakers on the promise of human genome editing for rare and genetic disease.

Genome editing is moving towards the clinic

In March 2020, in vivo CRISPR editing was performed for the first time in a patient, marking a huge step towards the clinical use of this innovative technology. The progression of genome therapy could be highly beneficial for patients with rare diseases such as Haemophilia B and inherited blindness. For some conditions, CRISPR treatment has the potential to be a permanent cure. But, they still have a while to go before they are offered in the clinic and there are still many ethical questions surrounding their use.

“We may be nearing the beginning of the end of genetic diseases.” 

Professor Jennifer Doudna, Co-Founder of Intellia Therapeutics

Life-saving research powered by genome editing

Back in the lab, genome editing plays a vital role in drug development and drug target discovery as it can be used to ‘knock out’ selected genes. This is a huge help for investigating potential targets for drugs as well as testing the effectiveness and mechanisms of a new drug.

Scientists can also use genome editing to learn more about diseases. Researchers can introduce genetic changes into the DNA of cells and study their effect on proteins, cells, tissues and even organisms much more rapidly than was previously possible.

But the technology isn’t perfect. Unanticipated ‘off-target’ effects to DNA and editing efficiency are two major technical challenges for genome editing – in the lab and the clinic.

We need patient and public voices

Engaging with patients and members of the public is critical to ensure science remains trustworthy and to help inform regulations and guidelines. We also need to respond to the needs and concerns of patients and their families – who will be able to access these treatments? What are the risks? How long will they take to reach the clinic? And who will decide which diseases are worth treating?

“When conditions are extremely rare – sometimes one in a million is quoted for my son – who will make the decision that his cure or his therapy is worth researching?”

Dr Alison Kay, patient representative

Don’t confuse somatic and germline genome editing

There can be confusion around whether changes in DNA from CRISPR treatments would be passed on to children.

Most genome editing research currently is based on somatic genome editing which is performed on non-reproductive cells. Therefore, any changes are not heritable. The risks associated with this type of research and therapeutic applications are lower, although not negligible.

Germline (or heritable) genome editing involves altering the cells involved in reproduction, such as the egg, resulting in changes which are heritable and so passed on to future generations. Germline genome editing is currently considered to be too risky for clinical use. There are possible unintended short and long term effects of heritable genome editing, both for the individual, and for society as a whole. An International Commission on human germline editing has been convened by the Royal Society and other international expert groups to develop principles, criteria and standards for the clinical use of genome editing of the human germline, should it be considered to be acceptable by society.

As somatic genome editing moves closer to the clinic, researchers, companies and the general public need to address both the medical and ethical implications it will have. To find out more about the current uses of genome editing and where it may take us, read the 2019 FORUM Annual Lecture Report.

This article was written by Lola Bewley De Castro during a work experience placement at the Academy.

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