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