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. I help research, write and update Uniques 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. Uniques 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.