Wellcome Genome Campus is pleased to announce the eleventh in our series of meetings on rare diseases, which will present an exciting blend of genomic science and clinical medicine. This year’s theme is ‘Discovery and Care’; we aim to explore how cutting-edge genomic research translates into clinical care and informs our understanding of the biology of rare disease. The event will commence on April 5 – 7, 2017 in Hinxton, UK.
The conference features the latest findings related to the genomic basis of rare diseases, providing powerful insights into human biology, disease mechanisms and therapeutic approaches. As genomic sequencing becomes more available in the hospital setting we also examine the opportunities and challenges for clinical practice.
This year’s meeting will focus on the emerging role of non-coding variants in disease, how mosaicism and imprinting impact health and disease, and the emerging technologies used to understand the mechanisms of rare disease. We will also include a session on rare disease clinical trials and will debate current ethical issues in genomic medicine.
This conference provides an excellent multi-disciplinary forum for clinicians (consultants and trainees), research scientists, bioinformaticians and technology developers interested in understanding the impact of recent advances in genomics and technology on the care of patients with rare diseases.
- Lupski Lecture: Hans Clevers – University of Utrecht, The Netherlands
- Han Brunner – Radboud University Medical Centre Nijmegen, The Netherlands
- Mark Chaisson – University of Washington, USA
- Rossa Chiu – The Chinese University of Hong Kong, Hong Kong
- Beryl Cummings – Broad Institute, USA
- Emma Farley – University of California, San Diego, USA
- Matthew Hurles – Wellcome Trust Sanger Institute, UK
- Kim Keppler-Noreuil – National Institutes of Health, USA
- Veronica Kinsler – UCL Institute Child Health, UK
- Benjamin Neale – Massachusetts General Hospital Research Institute, USA
- Sarah Teichmann – Wellcome Trust Sanger Institute, UK
- Karen Temple – University of Southampton, UK
Topics will include:
- The emerging role of non-coding variants in disease
- Mosaicism and imprinting in disease and health
- New technologies to understand rare disease mechanisms
- The intersection of monogenic and polygenic disease
- Rare disease clinical trialling
- Ethical challenges in genomic medicine
- Developmental genetics
- Cellular and animal modelling of disease
The organisers would like to thank the following company for their support:
Scientific programme committee
- Han Brunner Radboud University Medical Centre Nijmegen, The Netherlands
- Kym Boycott University of Ottawa, Canada
- Helen Firth University of Cambridge, UK
- Matthew Hurles Wellcome Trust Sanger Institute, UK
- Jay Shendure University of Washington, USA
- Jemma Beard Wellcome Genome Campus, UK