Recent advances in genetic technology are revolutionising the analysis of genes in clinical practice. Costs of tests are falling rapidly, testing of genome wide array and pathways of genes are routine in Scottish genetic practice, and studies of the first clinical applications of sequencing the whole of a person’s genome are being published. This unprecedented access to an individuals’ genetic code not only opens new horizons, but also brings clinical and ethical challenges. This symposium will comprise an introduction to the concepts of targeted genetic testing, genomic arrays and whole genome sequencing, and will present example applications in a broad range of medical specialties. There will be emphasis on immediate challenges in everyday clinical practice, the technological and interpretative limitations that clinicians must be aware of and a discussion of concepts that clinicians using such data in clinical practice should be versed in. Present and future applications of medical genomic analyses will be presented, and the challenges of gathering an evidence base to demonstrate effectiveness of such testing in common and rare diseases will be addressed.

Dr Zosia Miedzybrodzka
Chair Organising Sub-Committee

Friday 20 April 2012

Session 1 - Genomics is here

Chair: Dr Zosia Miedzybrodzka, Reader in Medical Genetics, University of Aberdeen

Session 2 - Genomics: Research to the clinic - Epilepsy as an example

Chair: Dr Anne Lampe, Consultant Clinical Geneticist, Western General Hospital, Edinburgh

Stanley Davidson Lecture

Chair: Dr Neil Dewhurst, President, Royal College of Physicians of Edinburgh

Session 3 - Genomics driving treatment

Chair: Dr David Goudie, Consultant Clinical Geneticist, Ninewells Hospital, Dundee

Session 4 -Treatment developments in rare genetic diseases:
                     'n' is for 'network'

Chair: Dr John Dean, Consultant Clinical Geneticist, Aberdeen Royal Infirmary

Online booking for this event closes on Friday 13 April 2012 but places may still be available after that date - please contact the Education Co-ordinator (see below).

Registration fees

Medical student - the £15 deposit will be refunded to those students who attend the event. It will not be refunded to students who register but do not show.

Unpaid Post - Nil, if confirmation of status provided - please contact the Education Co-ordinator at RCPE (see below).

Collegiate Members and Associates of the RCPE in clinical research posts may be eligible for funding - please contact the Education Co-ordinator for further information (see below).

Trainees in the medical specialties in the East of Scotland, North of Scotland or South East Scotland Deaneries are eligible to attend any number of events in the College’s main symposium programme in the current academic year for a one-off payment of £100 from their study leave budget, under the RCPE's "block grant" scheme. They will need to notify their Deanery who will issue an Application I.D. This number is needed in order to register.

Further details can be obtained from:

Christine Berwick
Education Co-ordinator,
Royal College of Physicians of Edinburgh,
9 Queen Street,
Edinburgh
EH2 1JQ

TEL: 0131 247 3634
FAX: 0131 220 4393

Email: c.berwick@rcpe.ac.uk

This event is open to all grades of medical, health care and scientific staff and to students. If you are unsure about eligibility, or the correct fee category, please contact the RCPE member of staff responsible for the event (see Fees and Contact Details page).

All relevant events are approved for Continuing Professional Development (CPD). Where appropriate, certificates of attendance will be provided but are usually posted out after the event.

Please note that on occasion event programmes may be subject to change due to unforeseen circumstances.

Access

As a listed building, the College has restricted disabled access. A wheelchair lift is provided at the rear of the College giving access to the Conference Centre and the main historic rooms, but not all of the smaller rooms used for educational events. For further information and assistance please contact the RCPE member of staff responsible for the event (see Fees and Contact Details page).

Accommodation and Directions to the College

The College has negotiated special rates with a number of local hotels.

Interactive map and directions

Download pdf map and directions

Commercial Sponsorship

Many events are supported by commercial companies taking stand space. Health professionals and NHS managers are invited to visit the company stands during the breaks. Companies interested in sponsoring this, or other events listed on the Calendar, should contact the relevant member of RCPE staff (see Fees and Contact Details page for the event).

Exhibitors/sponsors play no part in the planning or delivery of the event and the College has developed an Ethical Sponsorship Policy to support organising committees and committee chairmen in their negotiations with potential commercial partners for education and other events.