Reacción a "CRISPR used for the first time to treat a rare metabolic disease in a baby"

Does the press release accurately reflect the study?

‘Yes.

Is the study of good quality?

‘It seems to me to be a study of the highest quality and totally extraordinary. In fact, I was deeply moved to read it. It reflects the great potential of gene editing for therapeutic purposes. The researchers and clinical team have done a very thoughtful design with all the precautionary steps that the situation allows: characterisation of mutations, design of editors to correct, measurement of efficiency and off-target [unwanted effects], as well as testing the reagents in cell and animal models. Extraordinary work in record time.

How does this work fit with the existing evidence?

‘Great proof of concept that it is not impossible to treat very rare diseases at the individual level.

Are there any major limitations to be taken into account?

‘We will have to characterise the precision gene editing process in the future (patient safety permitting). For now, it has been possible to measure the positive clinical effects, but for patient safety reasons it has not been possible to obtain liver tissue to characterise the efficiency of gene editing.
It's a great demonstration, but it's also worth noting that this correction has been done in the liver; other tissues are much more difficult to gene edit, for now.

What are the implications for the real world?

‘Individualised, tailor-made therapies for a single patient are no longer a dream. Obviously, the process followed is of very high complexity and will require a lot of work to see how to scale it up and expand it to other cases. In any case, this work sheds a lot of light on the future’.