UKGTN 4th Biennial Conference: Achieving Ambitions in Genomics Medicine 3rd December 2014

Written by Jacqui Hoyle on 10 December 2014

The 4th UKGTN Biennial Conference took place in London on 3 December 2014. The conference was attended by 80 delegates and focused on achieving ambitions in genomics medicine. The agenda included updates on implementation of the UK Rare Disease Strategy from member countries and an update on the 100,000 Genome Sequencing project. The patient stories highlighted the importance of molecular diagnostic testing for informing clinical management of 2 patients living with rare inherited conditions. Presentations from the event are available to download below.  

The UKGTN 4th Biennial Report was launched at the conference and details key achievements and developments between April 2012 and March 2014. 

Alastair Kent UK Rare Disease Strategy: UK Rare Disease Forum
Barbara HoweImplementation of UK Rare Disease Strategy: England
Deirdre EvansImplementation of UK Rare Disease Strategy: Scotland
Christine MorrellImplementation of UK Rare Disease Strategy: Wales
Dr Fiona StewartImplementation of UK Rare Disease Strategy: Northern Ireland
Dr Edmund JessopEuropean Strategy for Rare Diseases: European Reference Networks
Professor Frances Flinter Medical Genetics Clinical Reference Group
Emma MatthewsPatient Story: Monogenic Diabetes
Sandra WebbPatient Story: Xeroderma Pigmentosum
Professor Mark CaulfieldGenomics England: 100,000 Whole Genomes
Dr Sarah StevensA National Rare Disease Register
Dr Jo WhittakerMessage from Chief Scientific Officer
Professor Garth CooperResearch: Proteomics and Metabolomics