Rare Diseases Day

1030 – 1040 Prof Jenny Taylor, Co-Theme Lead, Oxford BRC Genomic Medicine Theme Overview of Clinical Sequencing for Rare Diseases in Oxford

1040 – 1100 Dr Victoria Stokes, Clinical Research Fellow, Thakker Group, Academic Endocrine Unit The use of DNA sequencing in patients with longstanding presumed diagnoses – 2 cases

1100 – 1130 Chrissy Bolton, Academic Clinical Fellow, Experimental Medicine Division, JR Personalised genomic medicine to save a life and a bowel: allogeneic haematopoetic stem cell transplant in Glucose-6-Phosphatase 3 deficiency

1130 – 1200 Dr Carika Weldon, Scientific Researcher, OGC & Taylor Group
G-quadruplexes – structures in DNA & RNA that can be targeted for cancer and neurological disease

1200 – 1240 – Lunch break

1240 – 1300 Dr Matteo Ferla, Computational Structural Biologist, Taylor Group
Michelaɴɢʟo: explaining missense mutations with interactive protein web pages

1300 – 1330 Prof Jim Hughes, Professor of Gene Regulation, MRC WIMM
Interpreting the non-coding genome

1330 – 1400 Dr Dimitris Vavoulis, Statistical Machine Learning, Computational Genomics, Dept of Oncology & Taylor Group Differential genomic and transcriptomic events associated with high-grade transformation of chronic lymphocytic leukaemia &
Whole genome sequencing identifies putative associations between genomic polymorphisms and clinical response to the anti-epileptic drug levetiracetam.

1400 – 1410 Prof Jenny Taylor to close