Fundamentals of Clinical Genomics, Jan 2014

Start Date: 14/01/2014

End Date: 17/01/2014

Cost: Contact organisers

Venue: Wellcome Trust Sanger Institute



Fundamentals of Clinical Genomics 14-17 January 2014

This Wellcome Trust course will address the fundamental aspects of human genetics and genomics that underpin clinical practice, focusing on the latest scientific, technological and bioinformatics developments in this fast- moving area. The course is open to NHS consultants and specialty trainees in clinical genetics currently employed  in the UK, in addition to clinicians actively involved in the translation of genomics into clinical practice.

The programme will cover the following areas: genomic variation; sequence data analysis; gene structure and regulation; phenotyping, dysmorphology and clinical practice; genes in development; epigenetics and mosaicism; cancer genetics; and complex disease genetics. There will also be workshop sessions on DECIPHER; risk analysis; using data from 'Deciphering Developmental Disorders' (DDD) project in UK clinical genetics network; and ethical issues arising from the use of sequencing technologies in healthcare.

This course has been running since 2008 and is endorsed by the Clinical Genetics Society and the Specialist Advisory Committee in Clinical Genetics of the Royal College of Physicians, London. CPD accreditation (18 credits) was approved by the Royal College of Physicians in 2012. A similar application will be submitted for the 2014 course. Course numbers are limited to optimize discussions and interactions with tutors; therefore, early application is advised.

Courses are part of the Wellcome Trust Advanced Courses and Scientific Conferences Programme and are held at the Wellcome Trust Genome Campus, Hinxton, Cambridge - home to the world-famous Wellcome Trust Sanger Institute.

For full details, please visit

Course organiser:  Helen Firth, Addenbrooke's Hospital, Cambridge, UK

Teaching faculty:

Jeff Barrett Wellcome Trust Sanger Institute
David Fitzpatrick MRC Human Genetics UnitRichard Gibbons University of Oxford
Matt Hurles, Wellcome Trust Sanger Institute
Jane Hurst, Great Ormond Street Hospital
Eamonn Maher, Birmingham Women's Hospital
Mike Parker Ethox Centre, University of Oxford
Nazneen Rahman The Institute of Cancer Research
Andrew Read University of Manchester
Andrew Wilkie University of Oxford
Caroline Wright Wellcome Trust Sanger Institute

Registration fees:  Specialist Registrar 3 day: £285 Consultant 3 day: £360

Application deadline: 2 December 2013

The Wellcome Trust Genome Campus is operated by Genome Research Limited (GRL), a subsidiary of The Wellcome Trust. GRL is a charity registered in England with number 1021457 and a company registered in England with number 2742969, whose registered office is 215 Euston Road, London, NW1 2BE

Contact Details:


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