ALMOST £289K of funding has been awarded to an Oxford researcher to expand ‘cutting edge’ research into rare and severe forms of asthma.

Dr Anastasia Fries, an academic clinical fellow in respiratory medicine at Oxford University Hospitals, was awarded the money for a project that will conduct whole genome sequencing on 500 patients with severe asthma in Oxfordshire.

The project was created after a patient in the Oxford severe asthma clinic, Sam Day, was diagnosed with an unusual form of asthma.

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Ms Day, 33, from North Oxford, developed severe Crohn’s disease as a child and had to undergo a series of major procedures, including an ileostomy, bowel resection and removal of her colon.

She said: “I was unwell for a number of years, and then things settled when I was about 19 and I was able to go back to college.

“I worked at the John Radcliffe and Churchill hospitals as a nursing assistant, which I loved. And then suddenly I started waking up breathless and I didn’t know why.”

After being admitted to hospital in 2019, she was found to have eosinophilic asthma and normal treatments were ineffective.

She said: “I’ll never be the same again, I’ll never be able to do anything strenuous. I won’t be able to do nursing again. I’m having to get used to the new me. Life has changed completely, but it’s so much better than it was before, and I’m so grateful.

“The Oxford team have been so supportive through it all, and when they said they were looking into the genetics of asthma, I was quite proud that something good has come out of something so terrible. It’s not going to help me, because it’s still in its infancy, but it will help other people.”

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The genetic sequencing carried out on her samples revealed a new mutation which is affecting a cell pathway implicated in asthma, but the mutation is extremely rare and people would not normally be able to survive it.

Now this approach is being expanded to look for other patients with severe asthma who might have rare genetic mutations.

Dr Fries said: “There’s been a gap in asthma research in really understanding how genetic mutations work at a cellular level.

“We are setting up a model where we can take stem cells – from a skin biopsy or blood – and reprogramme them into ‘lung epithelial cells’ and then grow that tissue in the lab.

“We expect to gain a richer and more detailed understanding of the genetic causes of asthma, particularly how genetic mutations cause changes in the cells of patients with asthma. This knowledge may in future allow us to identify new drug targets for these rare forms of asthma, as well as helping respiratory clinicians to predict which patients will respond best to specific treatments.”

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This story was written by Anna Colivicchi, she joined the team this year and covers health stories for the Oxfordshire papers. 

Get in touch with her by emailing: Anna.colivicchi@newsquest.co.uk

Follow her on Twitter @AnnaColivicchi