Colin and ColXVII

On the day I started at UofL I was shown in to my new office and told that I was to be sharing with fellow new starter Prof Colin Willoughby for awhile whilst his office was renovated. Colin, as those who have met him will tell you, is a great guy and an amazingly good scientist; one of those rare people where you need to be switched on the entire time he is speaking as the thought process runs so quickly. A short chat with Colin and you suddenly have 5 more experiments to do that will get to the bottom of a question you didn’t know you should be asking in the first place!

On that fateful first day, he and I had a chat about our respective backgrounds and coincidence #1 came up where he is one of the two geneticists to come from a tiny wee town in Northern Ireland. As it happens, the other one was my PhD supervisor, Irwin McLean. He and Irwin had collaborated whilst I did my PhD, and I had processed some of the DNAs from some of his patients. Coincidence #2, Colin is an expert at miRNAs now, however, when he was just starting in to this relatively new area he relied on the work of Robert Lavker, my friend and mentor from Northwestern University. Robert was also one of the main reasons I considered a move from the skin into the eye and his opinion of Liverpool’s research helped me make my decision to take up this position.

#3 is just published.

One of Colin’s projects has been working  on identifying the mutation responsible for recurrent corneal erosions in an extended Liverpool family. Turns out the causative mutation is in the gene encoding Collagen XVII. As it happens, some of my key papers before leaving Chicago was into Col XVII (also known as BPAG2 or BP180) function in skin. In fact almost all my work at NU in some way investigated how Col XVII and its binding partners influence how cells behave – papers here, here and here. Even the manuscript we submitted last month contains images detailing surprising changes in Col XVII localisation when we modify LaNt a31 levels in corneal cells.

The original mutation identification paper from Colin and his collaborators is just published, it’s an interesting story, 20 years in the making, read the press release on the University of Liverpool’s website here. This finding and our serendipitous meeting has created a great opportunity to push this work forward, harnessing Colin’s genetics wizardry and my cell and molecular biology / matrix biology background. The family, incidentally, are lovely and its been a real pleasure to be able to say that we finally understand the reason behind their condition and that we are taking steps toward finding a treatment .

This news got picked up by a variety of other sources links here:

sci news.com science daily sci feeds TVN oyuz news united and more (beneath the pic)

family1

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