Rare Diseases Day
All welcome
Rare Diseases Day
Thursday 6th December, 0900 – 1430, Room A

0900 – 0930 Prof Jenny Taylor, Co-Theme Lead, Oxford BRC Genomic Medicine Theme. Overview of Clinical Sequencing for Rare Diseases in Oxford

0930 – 1000 Prof Andrew Wilkie, Nuffield Professor of Pathology, Co-Theme Lead, Oxford BRC Genomic Medicine Theme, Honorary Consultant in Clinical Genetics. Expanding the mutation spectrum and mechanisms in craniosynostosis

1000 – 1030 Prof David Beeson, Professor in Molecular Neuroscience.
Challenges arising from the expanding spectrum of disorders caused by mutations at the neuromuscular synapse

1030 – 1100 – COFFEE BREAK –

1100 – 1130 Dr Smita Patel, Consultant Immunologist.
The Genomics of Primary Immune Deficiencies

1130 – 1200 Prof Andrea Nemeth, NDCN and Consultant in Neurogenetics.
From genome to function in a rare cerebellar ataxia and intellectual disability syndrome

1200 – 1230 Dr Mark Stevenson, Post-doc, OCDEM.
Utility of Whole Genome Sequencing to diagnose complex disorders: lessons from renal and endocrine disorders

1230 – 1315 – LUNCH –

1315 – 1345 Dr Alistair Pagnamenta, Post-doc, WHG.
Neurological problems associated with defective glycosylphosphatidylinositol (GPI)-anchor biogenesis

1345 – 1415 Prof Alex Bullock, Structural Genomics Consortium.
Strategies to develop affordable medicines for rare diseases

1415 – 1430 Prof Jenny Taylor to close
Date: 6 December 2018, 9:00 (Thursday, 9th week, Michaelmas 2018)
Venue: Wellcome Trust Centre for Human Genetics, Headington OX3 7BN
Venue Details: Room A
Speakers: Professor Jenny Taylor (Wellcome Trust Centre for Human Genetics), Professor Andrew Wilkie (Weatherall Institute of Molecular Medicine, Oxford), Professor David Beeson, Smita Patel (University of Oxford), Dr Alistair Pagnamenta (University of Oxford), Dr Mark Stevenson, Alex Bullock (University of Oxford, Structural Genomics Consortium), Andrea Nemeth (University of Oxford)
Organising department: Wellcome Trust Centre for Human Genetics
Organisers: Isabel Schmidt (University of Oxford, Wellcome Centre for Human Genetics), Professor Jenny Taylor (Wellcome Trust Centre for Human Genetics), Donna Seymour (University of Oxford, Wellcome Trust Centre for Human Genetics)
Organiser contact email address: brcpa@well.ox.ac.uk
Host: Professor Jenny Taylor (Wellcome Trust Centre for Human Genetics)
Part of: Wellcome Centre for Human Genetics Disease Themed Days
Topics: Rare diseases
Booking required?: Not required
Booking email: brcpa@well.ox.ac.uk
Cost: n/a
Audience: Members of the University only
Editor: Donna Seymour