1. Find out who is going be at Haelo Hosts 2015 and what you can look forward to.

    Haelo Hosts 2015. We will be there, will you?

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  3. ICARE2C TRANSCRIPT

    RICHARD

    I have congenital cataracts, which I have had obviously since birth and unfortunately both Jessica and Sebastian have inherited that from me. Devastated. We knew that there was a possibility but the fact that statistically it went against us on both occasions it didn’t make it any less painful. They both had cataracts in each eye and have subsequently had lensectomy.

    PROF CHRIS LLOYD

    Well children that came to us with cataracts in the past faced a number of investigations, which took a lot of time, were very expensive and ultimately didn’t really produce the answers that we needed.

    PROF GRAEME BLACK

    It took people years to get a proper diagnosis.

    RICHARD

    We wanted to understand more about it in terms of whether or not there were any other side effects or whether or not it would lead to any other conditions.

    PROF GRAEME BLACK

    We developed a new genomic test, testing all of the genes that caused childhood cataract and that’s been remarkably successful.

    JANE ASHWORTH

    The aim of this project was to try and introduce the new genetic testing for children with cataract into our clinical practice and to try and avoid some of the unnecessary investigations and clinical appointments that they were having before.

    PROF GRAEME BLACK

    The exciting thing has been through the improvement science project to look at how we can now implement that within the NHS to ensure that doctors within both genetics and the eye hospital use the test and use it to benefit patients.

    DR SARAH WALLER

    Once we get the blood sample from the patient we extract the DNA from it and then we sequence it to look for changes in 114 genes that are linked to congenital cataracts. Once we get the sequence data from the machine we then analyse it on the computer using various programmes to look for changes that might be relevant to patient symptoms.

    GEORGINA HALL

    We can now do much more in-depth genetic testing. In our laboratories we are able to screen many genes at one time and look for lots of different causes of many different rare diseases.

    PROF CHRIS LLOYD

    It’s relatively swift, it’s precise, and it provides a level of certainty that we just couldn’t even have dreamt of in the past. This helps us to target treatment, to provide appropriate advice for parents; we just feel that it’s been a complete sea change in the way we approach children with cataract.

    RICHARD

    We obviously wanted to understand whether it was likely to cause them any other problems in later life, we wanted to try and see if we could assist with the study for the purposes of other people and children going forward and hopefully one day for their (Jessica and Sebastian’s) own children. We were very happy to participate.

    PROF GRAEME BLACK

    The IS4Ac programme has been really successful in helping us to build a team, in focusing on improvement science and understanding how small changes can be incremental and lastly in enabling us to work and engage with management, with doctors and with staff at all levels to ensure that we implement the change.

    RICHARD

    In terms of the actual care and the attention that Jessica and Sebastian have had, we couldn’t praise that highly enough.

    WENDY

    It’s useful to have a one person that you trust or a couple of people that you get to trust, so the consultants here in H Clinic who do the operations are also the people that you talk to in genetics. It really helps us to know that they know our children and know us, know the history and know what can be done.

    RICHARD

    I’d obviously like to see them both go on to university and end up with good jobs.

    WENDY

    Be happy and healthy as well and be good kids; we’ve got two very different ones. One’s very strong willed and the other’s very laid back so it’ll be interesting to see what happens.

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