• Question: what is the rarest disease that you have seen/operated on?

    Asked by Peach to Kylie, Matt, Bex, RobB, Sam on 13 Jun 2016.
    • Photo: Kylie Belchamber

      Kylie Belchamber answered on 13 Jun 2016:

      Hi Peach,
      I mainly work on lung diseases like asthma, and COPD which affect millions of people across the world. I have also worked on cystic fibrosis, which is a genetic condition where the lungs make lots of sticky mucus and they get a lot of infections (think about working with gooey green snot all day, it is horrible!). Cystic fibrosis affects about 2.5 million people in the UK, so isn’t that rare either.

      I have been to some conferences where doctors have done a talk on single person ‘case studies’, where they describe a disease that someone has and how they treated it. These diseases are normally weird genetic changes in a persons DNA so only affect that 1 person in the world. It is really cool!

    • Photo: Rebecca Thompson

      Rebecca Thompson answered on 13 Jun 2016:

      In my PhD project I worked on a protein called beta-2-microglobulin, and how it forms rope like structures called amyloid fibrils.

      In patients whose kidneys aren’t working properly, so are undergoing dialysis treatment (a way of filtering out waste from the blood, the job our kidneys usually do), this protein called beta-2-microglobulin isn’t filtered out properly and stays in the blood. Over several years, the beta-2-microglobulin protein starts to clump in joints like the elbow and knee, forming these rope like structures called amyloid. Cells in our immune system called macrophages go into the joints and try to get rid of the amyloid, but they cant. This process gives the patient painful joints, this is called ‘dialysis related amyloidosis’. Its pretty rare overall, roughly 25,000 people in the UK are having haemodialysis, the longer someone is on dialysis treatment the more likely they are to develop side effects like dialysis related amyloidosis. We don’t know exactly how many people suffer from it however.

    • Photo: Matt Dunn

      Matt Dunn answered on 13 Jun 2016:

      Hi Peach,

      I mostly work with patients that have Parkinson’s or Huntington’s, and these diseases are fairly rare, with Huntington’s affecting around 5 people for every 100,000 people in Europe. However, the way people develop the disease also changes, with a small percentage of cases being caused genetically, making them extremely rare!

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