Are you Sally Lynch?
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(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 included information on our research, carrier testing, etc. 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.