November 30-December 1st, 2016

Emyr and Rafa are at the 2016 LSRNW conference at the St. Davids hotel. The LSRNW are co-funding Rafa’s PhD on drug development for the NCL’s, specifically CLN8, alongside the BDFA. We are hoping to make new important connections and consolidate our currently important collaborations to facilitate Rafa’s PhD work.

Amazingly, this morning we found out from Prof Julie Williams that although Wales only makes up 0.14% of the global scientific community, we very much punch above our weight with 0.7% of the world’s highest ranking scientific output. We have also had a very inspirational presentation about how the Welsh government are promoting women in science at Universities here in Wales, attempting to actively address the gender gap in research and showing Wales to be a great place to do research.

There are some very interesting talks on drug development and treatments across these two days, we look forward to presenting our own work at this meeting next year.

Published in the first edition of Wellcome Open Research is an article featuring some of the post-doctoral work of Dr. Lloyd-Evans. This article entitled “Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway” focuses on the potential role of the NPC1 protein as a target for Mycobacterium tuberculosis, the infectious agent that causes tuberculosis. As one of the leading killers in the under developed world, tuberculosis remains a major human health issue. That the lysosome was involved in tuberculosis was never in question but that a lysosomal disease protein is involved in the process of pathogenicity is an extremely novel finding and highlights new potential therapeutic avenues. Published in this novel journal, with open peer review, it will be interesting to see what people make of the research. We here at the Lloyd-Evans lab would like to pass on our congratulations to all the co-authors involved in the study.

For the next two weeks Luke will be visiting the lab of Dr. Sam Pitt at St. Andrews University to learn single channel recordings as part of our NCL research project funded by the NCL Stiftung.

St. Andrews is the third oldest of the English speaking Universities in the world and is also known for it’s golf course. Luke will be there to complete work for a paper and to pick up these techniques so we can eventually establish single channel recordings at Cardiff.

Many thanks to Sam for assisting us with this work and we hope this will be the beginning of further collaboration on this and other projects down the line.

We’ve just got back from the 2016 Batten Disease Family Association annual conference which was very successful, interesting, emotive and humbling, as always!

Katie gave a fantastic presentation on her Cardiff Uni/Battle Batten & BDFA funded CLN5 project and Rafa did a great job introducing his Life Science Research Network Wales/BDFA funded CLN8 PhD project to an audience including families, professionals and care givers. Luke joined us on Sunday to present a poster on his Action Medical Research funded work on the function of CLN3, which attracted attention from families present at the meeting. We’re privileged to be part of this community and energised by this meeting to do what we can to further our understanding of these devastating diseases.

Behind us all is this rather impressive artwork using some of our quotes during the meeting and created by www.twovisualthinkers.info:

We are delighted that Dr. Helen Waller-Evans will remain with us as a post-doc for at least the next two years having taken the position of post-doctoral scientist in our lab on the European Union funded BATcure consortium. Helen is an excellent scientist with all the necessary skills to complete the work outlined in our BATcure work package. Helen will predominantly work on CLN6 disease whilst also assisting and providing support for our various CLN3 projects.