Genomics of Rare Disease: Beyond the Exome
Wellcome Genome Campus

Hinxton, United Kingdom
https://registration.hinxton.wellcome.ac.uk/events/item.aspx?e=575
Genomics of Rare Disease: Beyond the Exome
Wellcome Genome Campus Advanced Courses and Scientific Conferences
https://registration.hinxton.wellcome.ac.uk/events/item.aspx?e=575
Wellcome Genome Campus
Hinxton
United Kingdom

Schedule of Presentations:

Wednesday, April 13, 2016
06:45:00 Short Talk
12:30:00 Registration with lunch
13:50:00 Welcome and Introduction
14:00:00 Lupski Lecture: TGFβ in inherited vasculopathies: a matter of aneurysmic proportions
14:15:00 Session 1: Monogenic meets polygenic disease
15:15:00 Rare and common variants contribute to the complex inheritance of Hirschsprung disease and link central and enteric nervous system genes Jeffrey Barrett, Stanislas Lyonnet
15:45:00 Afternoon Coffee
16:15:00 Session 1 continued: Monogenic meets polygenic disease
16:15:00 The genetics of depression Jonathan Flint
17:00:00 Discussion
17:15:00 Lightning Talks
18:00:00 Poster Session I (odd numbers) with drinks receptio
19:30:00 Dinner
Thursday, April 14, 2016
09:00:00 Genetic modifiers of neurological disease Susan L Ackerman
09:00:00 Session 2: Modifiers of disease
09:30:00 Short talk from selected abstract
09:30:00 Cell-based screens to identify new therapeutic strategies for rare diseases Stephen P Jackson
10:00:00 Short talk from selected abstract
10:15:00 Short talk from selected abstract
10:30:00 Morning Coffee
11:00:00 PCSK9 inhibitors: Rapidly moving from discovery to bedside Jennifer Robinson
11:00:00 Session 3: Therapy
11:30:00 Short talk from selected abstract
11:45:00 Short talk from selected abstract
12:00:00 Short talk from selected abstract
12:15:00 Discussion
12:30:00 Lunch
14:00:00 Radically open data sharing to accelerate the pace of gene discovery Jessica Chong
14:00:00 Session 4: Matchmaking exomes
14:30:00 International efforts to facilitate novel gene discovery: opportunities and challenges Ada Hamosh
15:00:00 Short talk from selected abstract
15:15:00 Short talk from selected abstract
15:30:00 Afternoon Tea
16:00:00 Session 5: Metabolomics and epigenomics
16:00:00 Next-generation metabolic screening: a tool in the functional genomics laboratory Ron Wevers
16:30:00 Epimutations as a novel cause of congenital disorders Andrew Sharp
17:00:00 Short talk from selected abstract
17:15:00 Lightning Talks
18:00:00 Poster session II (even numbers) and drinks reception
19:30:00 Conference Dinner
Friday, April 15, 2016
06:00:00 New Presentation
06:00:00 New Presentation
06:00:00 New Presentation
09:00:00 Session 6: Ethical and policy issues in genomic medicine Han Brunner
09:00:00 title TBC Dagan Wells
09:45:00 Panel Discussion
10:30:00 Morning Coffee
11:00:00 Parallel analysis of gene expression in thousands of individual cells using nanoliter droplets Steven McCarroll
11:00:00 Session 7: Technology
11:30:00 Genome wide haplotyping as a generic method for preimplantation genetic diagnosis eliminates transmission of rare genetic diseases Joris Vermeesch
12:00:00 Lunch
12:00:00 Short talk from selected abstract
12:15:00 Short talk from selected abstract
13:30:00 Session 8: New approaches to therapy
14:00:00 Short talk from selected abstract
14:15:00 Short talk from selected abstract
14:30:00 TBC
15:00:00 Closing remarks
15:45:00 Coaches depart to Cambridge and LHR via STN
3D Tissue Models
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