The Genomics Era

The Genomics Era

The BADGEM session at last year’s British Association of Dermatologists conference inspired me to undertake a free online FutureLearn course ‘The Genomics Era’ ( St Georges, University London) to make sure I’m up to date with the technology being used now to study the genome. This had several purposes though; I also wanted to see how online courses work. Although I’ve prepared material for online courses, I had never actually taken part in one. This also gave me an opportunity to see the kind of problems students encounter learning about genes, genomes and the genetic code.

The latest technology, including genome wide association studies (GWAS) and next generation sequencing, make it possible to crack complicated disorders that arise due to defects in multiple genes. A highlight at this year’s BAD conference was hearing Angela Christiano talking about research using GWAS that has revealed new genes associated with alopecia areata, a common hair-loss disorder that can even affect young people. The discovery of these genes has led to treatment that looks extremely promising.

Also this month I’ve gone back in time and learnt about the origins of cell culture. ‘The immortal life of Henrietta Lacks’ by Rebecca Skloot is partly a biography of the patient whose cancer cells became HeLa, one of the most commonly used cell lines used in research. But it also tells, all too painfully, the reason why we now have informed consent since the taking of cancer cells from Henrietta Lacks had considerable consequences for her family subsequently. Other shocking revelations in this book were the early experiments that were carried out using HeLa in ignorance.

We have come a long way since the cell culture revolution began with huge discoveries of benefit to mankind but many lessons have been learnt the hard way. We are now in the genomics era which is the next exciting revolution with lots of potential but also lots of ethical issues regarding the sequencing of peoples’ genomes. Let’s hope we can manage it better, with fewer mistakes this time. 

Puddletown Forest Walks

Puddletown forest doesn't have any way marked routes so, during 10 months of walking the puppy, we have come up with a short (brown) and long (blue) walk. The long walk is sometimes extended to include the pond near Thomas Hardy's cottage. The map below I drew for the purposes of recording so I know which 1km square we are in at any one point. I send dragonfly and moth records to Living record and butterflies to the Dorset butterfly conservation website.

Birding, recording and tweeting

Work has been slow coming in this year so I have invested some time in learning how to submit records of moths and dragonflies and how to use twitter to find out what others are seeing locally. White winged black tern is a rare migrant in the UK and one I missed years ago when living in Dundee because I refused to be distracted from my work. This week I finally got to see one in Wareham.

More Meetings in 2014

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. 

Keep wearing the sunscreen

I was fortunate to be able to attend four conferences in 2014. The World Congress on Cancers of the Skin, held in Edinburgh last year was the last one I attended. The talks on the first day covered prevention and seemed rather repetitive as the problems encountered in each country were rather similar.

The next day was on what are generally referred to as non-melanoma skin cancers. This I found much more interesting. The scientific sessions approached the understanding of initiation, progression and spread of these cancers from many angles. I tried to summarize the diversity of the talks I attended in a diagram below. The most fascinating developing area extends beyond the tumour cells themselves. Skin cancer cells require changes to occur in their surroundings as well, providing a permissive stromal (extracellular matrix) and immunological environment to progress. 

The malignant melanoma day followed and was really new to me but equally fascinating especially regarding the progress that has been made with new drugs that inhibit BRAF. However, it is very concerning how many ways the BRAF inhibitors can be evaded and unclear what combination of drugs might be used in the future that will work for every case of malignant melanoma. At the end of the day I was exhausted with the complexity of the disease and really began to think prevention might not be exciting but it is definitely better than any drug combination.

The diagram is based on the talks from the Molecular Science track and plenary sessions. A full list of speakers can be found in the programme at http://www.wccs2014.org/welcome/

Dorset Nightlife

This year I’ve seen scarlet tigers, pink elephants, emeralds, two ghosts and a shark in my garden! It isn’t due to alcoholic excess; I’m actually hooked on moths and their incredible biodiversity. There’s the privet hawkmoth built like a miniature jump-jet only, as a moth, it is pretty sizable filling the length and breadth of a large human palm. Then there’s the equally big contortionist, the poplar hawkmoth that rests with its hind wings in front of its fore wings. The camouflage experts include the bufftip that looks like a bit of peeled off bark, the scorched wing that mimics a dead leaf and the Chinese character rather incongruously named because it looks like a bird dropping. We have also been visited by day flying exhibitionists, the garden and scarlet tigers and the awesome hummingbird hawkmoths that never seem to rest, zipping from flower to flower. In total this year, there have been 111 species trapped in my light-box in just 19 nights, almost double the number of species of butterfly I’ve seen in the UK in a lifetime. 

From Ammonites to Dinosaurs

Having moved to Dorset earlier this year, I spent my 50^th Birthday at the Dinosaur museum in Dorchester, apparently the only UK museum dedicated totally to the subject. We went to entertain my young nephew and niece but I came away totally absorbed by the discovery of the dinosaurs and how big an impact this must have had at the time on religion in particular in the early C19th. I was also surprised that a woman, a poor woman, had succeeded in being a pioneer. ‘She sells sea shells on the seashore’ is a lot better known than Mary Anning, who is thought to be the source of the tongue twister. It presumably refers to the ammonites she and her family collected to sell to tourists to keep them from starvation although these were often referred to as snake stones in her day. They actually remind me far more of sea horses which frequent the other end of the Dorset coast. The ammonites lead to far greater things and not one but several complete fossilized dinosaur skeletons. Most of us involved in scientific research can only dream of a dinosaur moment but should rest assured discovering an ammonite still requires great skill and can make an important and very satisfying find.