Woman with novel gene mutation lives almost pain-free

As well as feeling virtually no pain, Jo also experiences very little anxiety and fear, and may have enhanced wound healing due to the mutation. Learning from her case could help guide new treatments for a range of conditions.

Jo has a “particular genotype that reduces activity of a gene already considered to be a possible target for pain and anxiety treatments,” explained Dr James Cox (UCL Medicine), one of the lead researchers. 

The researchers say that it is possible there are more people with the same mutation, given that this woman was unaware of her condition until her 60s.

After Jo’s story made headlines worldwide, dozens of people with various forms of pain insensitivity also contacted James and his colleagues, expressing their interest in participating in research.

“People with rare insensitivity to pain can be valuable to medical research as we learn how their genetic mutations impact how they experience pain, so we would encourage anyone who does not experience pain to come forward , said James.

The research team is continuing to work with the woman in Scotland, and are conducting further tests in cell samples, in order to better understand the gene.

This discovery marks scope for further research. James said,

“We hope that with time, our findings might contribute to clinical research for post-operative pain and anxiety, and potentially chronic pain, PTSD and wound healing, perhaps involving gene therapy techniques.

Jo commented,

“I would be elated if any research into my own genetics could help other people who are suffering.

Links

• UCL news story
• Dr James Cox's academic profile
• UCL Division of Medicine
• Research paper in the British Journal of Anaesthesia

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Credit/Source: Jo Cameron/UCL Medicine