Understanding Rare Chromosome and Gene Disorders
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Anna Pelling BSc(Hons) PhD

I was very happy to have been given the opportunity to join Unique in 2015 as one of the Information Officers. Iย help research, writeย and update Uniqueโ€™s information guides and manage our guide translation project and our single gene disorders leaflet project. I have a BSc(Hons) in Biology, a PhD in Molecular Biology, and worked as a postdoctoral research scientist for many years. With the recent advances in genetic technologies, children are being diagnosed with rare chromosome disorders at an ever increasing rate and for a great number of these genetic changes there is very little information available for parents. Uniqueโ€™s guides are not only written with information gathered from scientific literature and related databases but with information gathered from families who can give a more personal insight as to the effects of such changes.