The other two meetings of 2014 provided me with an update on another
previous research field. The British Association of Dermatologists meeting was
held in Glasgow and included a new session dedicated to genetic disorders. Key
researchers in the field gave updates on the novel therapies that are being
tried for these often devastating disorders. Back in the 1990s, when I was doing
research into one of the keratin disorders, it seemed a long way in the future
before therapy would be possible but now there are promising clinical trials underway.
Another breakthrough is in the identification of underlying genes causing some
of the remaining disorders that had been tricky back in the 1990s. Thanks to
next generation sequencing, a new technology that has revolutionised the way we
can look at the genome, it is now possible to find the gene, a vital first step
towards understanding what is going wrong with the skin in a genetically
inherited disorder.
I was also invited to an Ichthyosis Support Group meeting in
Newcastle which was an opportunity to meet patients and their families and
understand better what it is like to live with these disorders.
These two meetings were timely, helping me update my
lectures on human genetic disorders of the skin that I was due to give in
October 2014, for the first time in 6 years.
No comments:
Post a Comment