• Question: Have you come across the 100000 genome project

    Asked by anon-181561 on 6 Jun 2018.
    • Photo: Alex Haragan

      Alex Haragan answered on 6 Jun 2018:


      Yes I have – in fact I regularly contribute work to it.
      One of the main aims of the project is to look at the genetics and genomics of various common cancers – including lung cancer.
      The work I do as a pathologist (a kind of medical doctor) means I regularly receive lungs with cancer in them at the lab. The cases that are required for the project mean I will chop out a small piece of the cancer and send it to be analysed.
      It is a fantastic project!
      The data from it will hopefully provide many new answers for us. A big problem of looking at genomes (which basically means looking at all the genetics elements of cell) is that these vary a lot between people even in normality. We know certain cancers are caused by genetic changes – but knowing what genetic changes result in cancer, and what result in different things is a difficult question.
      In time though it will help us develop many new drugs for many things!

    • Photo: Joey Shepherd

      Joey Shepherd answered on 6 Jun 2018:


      I certainly have – although actually not as part of my work! My son has an undiagnosed genetic disorder – that is, there is a mutation somewhere in his genes which has meant that he has learning difficulties and uses a wheelchair. However so far noone can figure out where or what this mutation is, so the project has samples of my sons DNA and our DNA as his parents to compare them and to see if it can be discovered. If it is worked out, it’s unlikely to make any difference to us as it won’t be something we can ‘fix’ but from a scientific point of view I would love to know!

    • Photo: Daniel Rhodes

      Daniel Rhodes answered on 7 Jun 2018:


      Yes! My project centered around the 100K genomes project. I’m actually about to start analysing some data from this.

    • Photo: Joaquin Zacarias Cabeza

      Joaquin Zacarias Cabeza answered on 7 Jun 2018:


      Yes!

      Actually I have worked with epigenomics in AML cancer and nowadays with mesotheioma cancer. We have found out that the epigenetic signatures in AML patients are different compared to control patients. These epigenetic signatures have helped us to understand more the molecular mechanisms during the development of the disease. All these data have been shared with 100000 project to be compared with other data and hopefully in the future straify the medicine. And nowadays I am doing for mesothelioma cancer….

    • Photo: Camille Parsons

      Camille Parsons answered on 7 Jun 2018:


      Yes I have heard of it, but unlike the other scientist I have not worked directly with the data from this project. However the clinical doctors I work with have provided samples and data to add to this project.

    • Photo: Claire Donald

      Claire Donald answered on 8 Jun 2018:


      Yes I have and I’m glad you have too. It is not part of my work but it is a really interesting project and will make a huge difference to human health in the future.

    • Photo: Hannah Farley

      Hannah Farley answered on 10 Jun 2018:


      Yes! It’s really cool and will hopefully give us a lot of answers. I’m not lucky enough to contribute to it, but patients who might have the condition I work on sometimes submit samples to it if no one can work out what disease they have.

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