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Dr Sally Lynch

Dr

Sally Lynch

Occasional Lecturer
School of Medicine
01 8784645
University College Dublin, School of Medicine, Children's University Hospital Temple Street Dublin 1

BIO

(1) My research interests are in rare diseases. My group has had success in identification of several rare disease genes and have developed simple cost-effective genetic tests, which have been translated into the diagnostic laboratory. I have also an interest in education using new technologies. We have developed a microsite, http://www.ucd.ie/medicine/rarediseases/ which contains information for use by GPs and other Health care professionals on common genetic topics. We have developed twenty seven educational animation videos on consanguinity, inheritance patterns, chromosomal translocations and copy number variants and variants of unknown significance. These videos have been uploaded on the UCD Youtube channel. https://www.youtube.com/user/UCDMedicine/videos I have recently published a catalogue of >100 inherited rare disorders found amongst the Irish Traveller population. This has been followed up by a second publication, in collaboration with fetal medicine specialists, Prof F McAuliffe & Dr F Mone ,on a perinatal approach to genetic disorders found in the Irish Traveller population. I have also recently published a paper on establishing consistency in clinical triage in a tertiary referral specialty. We have estimated that the average 3 generation family size consists of 64 individuals in comparison to an English 3 generation family who number 19 individuals. This has implications for those of us providing a service in the Republic of Ireland.