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24 April 2019

Genome Editing: One Small Needle for Brian, One Giant Injection For Gene Therapy

It’s been just over a month since the first ever human in vivo genome editing treatment was administered. To me this is akin to the first ever moon walk. The person being treated is a 44-year-old man called Brian. Brian suffers from a rare genetic disorder called Hunter syndrome (a genetic disorder leading to the toxic accumulation certain sugar molecules).

Personally, I think he is as brave as astronauts going out into the unknown, particularly as previous gene therapy trials have not always been without risks and side effects.

What is special about this treatment is that it is the first time a gene has been directly edited in vivo, rather than modifying a patients cells outside of the body. The doctors and the biotech company (Sangamo Therapeutics) that developed the technology are as confident as they can be that the treatment will be safe.

However, at this point nobody really knows the side effects of this treatment type. They are boldy going where no one has gone before. The outcome of this study may not benefit Brian directly, as the study does not aim to reverse the damage of Hunter syndrome, but it will allow the doctors to assess the mechanism of the gene editing tools used to make the genetic change.

Perhaps unsurprisingly, the story has been covered widely in the mainstream and scientific news. What I like about this story is that it puts a name and a face to the science, making it personal. Often as a scientist I am so focused on what I am doing day-to-day,

I barely take my head away from my lab bench and my pipettes. My role in the development of these types of treatments is a very small part of the process.

I develop the purification of viral particles (adeno-associated virus) used to deliver the gene editing tools to the patient’s cells, but like so many other small steps in the field, this is a vital part of the process.


The story behind this treatment did not start on the day of Brian’s IV infusion, it didn’t even begin with the doctors or the hospital. Like the first moon walk, it involved years and years of work, ideas, failed attempts and hundreds and hundreds of people working together towards a common goal.

These people are not just involved in research, process development, regulation, validation or analysis they are also people who are unseen, often unacknowledged but pivotal to the project, and whose contributions also supported the technical work. I can only imagine how these people involved in developing this technology, either directly or indirectly, must be feeling.

I have several years experience in this industry, and it is still early days, but I look forward to a time when a project I have worked on makes it to a patient, contributing to improving their lives.

I will likely never know their name or see their face, which is why the story of Brian is so encouraging and motivating to me. Whatever the outcomes of this treatment the findings will have implications for the future of genome editing therapies including the development new viral vector systems and gene editing technologies here at Oxford Genetics and that of our customers and collaborators.