Clinical Genomics 2017 Programme

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09:00 - 9:55 Registration and Coffee                 

9:55-10:00 Welcome  Professor William Newman (Chair, BSGM)

10:00- 12:10   UK Clinical Genomics

The 100,000 Genomes Project  - a UK wide perspective 

10:00 - 10:15 The Scottish Genomes Partnership: Progress and Prospects Tim Aitman (Scottish Genomes Partnership)

10:15 - 10:30 Northern Ireland and the 100,000 Genomes Initiative Shane McKee (NI Genomic Medicine Centre)

10:30 - 10:45 Genomics and the 100KGP in Wales: Devolution Pros and ConsJulian Sampson (Welsh Genomic Medicine Centre)

 10:45 - 11:00 Overall update  Richard Scott (Genomics England) and Clare Turnbull (Genomics England)

The interpretation of DNA variants

 11:00 - 11:30 Clinical Interpretation of Genetic Variation.  Heidi Rehm (Broad Institute MIT and Harvard Medical School)

11:30 - 11:50 Improving the interpretation of rare variants through inter-disciplinary working.  Sian Ellard (University of Exeter)

11:50 - 12:10  Discussion and Panel Q & A  Steve Abbs (Cambridge) and Michael Simpson (Kings College, London

 12:10 - 13:10  Lunch and Trade Exhibition

Concurrent submitted abstract sessions Discovery

13.10 Diagnostic whole genome sequencing in research participants with multiple primary tumours. James Whitworth

13.25 ACTB loss-of-function mutations cause a multi-system developmental disorder and highlight the role of β-actin dosage during development.  Sara Cuvertino

13.40 From Aicardi Goutières syndrome to linking genome instability with innate immunity Karen Mackenzie

13.55 De novo mutations in regulatory elements cause neurodevelopmental disorders Matthew Hurles

14.10 A novel multisystem disorder of retinoic acid metabolism caused by a defect of dehydrogenase/reductase 3 Akiko Hashimoto

14.25 A novel genetic screening method for men with idiopathic azoospermia or severe oligozoospermia Joris Veltman          

Concurrent submitted abstract sessionsService

13.10  Celebrating molecular screening of 10,000 families with inherited cardiac conditions: reflecting on past, present and future challenges Karen McGuire

13.25  Phenotype-agnostic exome analysis in paediatric singletons - cheaper than trios, better than panels? Ian Berry

13.40 The perinatal skelexome: does prenatal exome sequencing influence the management of skeletal disorders presenting in pregnancy? Jennifer Campbell

13.55 Novel molecular investigation utilising somatic studies and cell-free DNA technologies can underpin significant change in retinoblastoma management  Trevor Cole

14.10  A Workflow for Rapid Whole Genome Sequencing (RaPS) to Diagnose Rare and Complex Genetic Disorders Emma Clement

14.25  Are genomic results always confidential to the person in whom they were discovered? Anneke Lucassen

14:40 - 15:10  Afternoon Tea and Trade Exhibition

  Plenary Session - Genomics in practice 

15:10 - 15:40 Bridging data from healthcare to research: ERN GENTURIS  Nicoline Hoogerbrugge (Radboud University Medical Centre, Nijmegen)

15:40 - 16:10 Mitochondrial DNA disease  Doug Turnbull (Newcastle University)

16:10 - 16:40 The ethics of Non-invasive prenatal testing (NIPT): choice, harm and equality  Tom Shakespeare (University East Anglia)

16:40 - 17:30 The BSGM Lecture 2017: New frontiers in human genetics Jay Shendure (University of Washington)

17:30 - 18:00   BSGM Annual General Meeting