It has been a tough, but rewarding start to my PhD. After the elation of being awarded the SHHiRT studentship with Professor Kelsell in November 2011, it was straight to work and into the laboratory!

Firstly, I was given the task of optimising a technique to insert the ABCA12 gene (the gene that, if abnormal, causes Harlequin Ichthyosis) into skin cells. This has been fraught with difficulties in the past, though by adapting a technique adopted from a neighbouring research team, we can now utilise this technique for important further experimentation throughout the year.

I have also been working as part of the Kelsell team on the analysis of a panel of Harlequin Ichthyosis patients using a new high throughput sequencing technology. This has also required learning and using new data analysis programmes from a bioinformatics expert. Using the information obtained from these studies we have identified novel mutations in ABCA12 that can be used in future genetic diagnosis. I have also be involved in the process of looking if two drugs change some of the abnormal behaviour of Harlequin Ichthyosis skin cells.

Importantly to our studies, we have now made Harlequin Ichthyosis skin cells that are “immortal” in the lab which will allow us to perform many more studies including “rescuing” their abnormal behaviour by inserting the normal ABCA12 gene into them or by drug modulation. This is a massive breakthrough and I am looking forward to the year ahead and progressing our studies and tests.

2012 will bring many more updates and hopefully some further good news for SHHiRT and all their supporters.

Phil