Understanding Rare
Chromosome and Gene Disorders
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Arti Patel, BSc (Hons)

I was delighted to join the Unique team in August 2015 as an Information Officer. My role is to answer queries from new and existing family members and professionals, to provide information about specific rare chromosome and single gene disorders and to help match up families on the basis of their rare chromosome disorder, symptoms or treatments. I also help in the production of the Unique magazine. I was born with Treacher Collins Syndrome (TCS) – a rare genetic condition caused by a single gene mutation. As a result of my TCS, I also have a moderate hearing loss in both ears and wear a bone conduction hearing aid. It is with the endless support of my parents and elder sister that I am able to be in a position to share my experiences and hopefully offer some support to families affected by rare chromosome and single conditions.

BSc (Hons) – Bachelor of Science with Honours in Physiology and Pharmacology