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Unique is a registered charity (registration no. 1110661). Our mission is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder, copy number variant or single gene disorder associated with learning disability/developmental delay and to raise public awareness. Wherever you are in the world, you are not alone in this journey!JOIN US
In line with our Mission Statement above, we aim to act as an international group, supporting, informing and networking with anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder and with any interested professionals.
We aim to provide specialist information relating to many hundreds of different rare chromosome disorders and autosomal single gene disorders, to inform parents, carers and the professionals working with them.
We aim to facilitate a network of families across the world living with rare chromosome disorders or autosomal dominant single gene disorders , bringing them together both in person and virtually for invaluable mutual support. By networking with professionals and the wider public we also aim to increase awareness and understanding of what it’s like to live with these disorders.
We aim to be there for families and individuals, offering a listening ear, an understanding, sympathetic presence to support them when they need us most, often at or just after receiving a diagnosis of a rare chromosome disorder or an autosomal dominant single gene disorder.
Scroll down to meet the Unique team and if you would like to read more about Unique’s background and history please click here.
I first discovered Unique four years ago when my sister’s gorgeous youngest daughter Tilly was diagnosed with Tetrasomy 9p. While very little information was made available to her upon diagnosis, fortunately a friend of mine who works as a paediatrician recommended getting in touch with Unique...Read full bio
I was thrilled to join the Unique team as a part-time Information Officer in August 2019. My role is to answer queries from families and professionals, provide information about specific rare chromosome and single gene disorders....Read full bio
Hello, I am Gemma. I work as an Administration Officer for Unique. My main job is to keep the database updated and I am currently engaged in a rolling programme sending out database entry forms and consent forms to our member families.Read full bio
I joined the group in May 1995, just after my son Robert was diagnosed (at the age of 1) with two identical markers – resulting in a rare 48 chromosome inverted duplication of chromosome 15q12-q14....Read full bio
Hi , I’m Helen. My younger son Patrick had a profound speech and communication delay which lead him at be tested at the age of 4 years. This found that he has a deletion 18p11.32p11.21...Read full bio
Hello I am Shwetha. I am a Consultant Clinical Geneticist based at Guys Hospital in London. I graduated from Oxford Medical school in 2006 and completed my Specialist Training in Clinical Genetics in 2017. I am passionate about ensuring that advances in genetic technology make a difference to as many people as possible...Read full bio
James is the newest member of Unique's board of Trustees, having joined us towards the end of 2017. With a background in IT, software and data security, he brings much-needed skills to the board....Read full bio
I have an 11 year old son Max with dup 9p(23-14) and del 9p(23.1-23.3) and a younger daughter. Unique changed our lives when we were told shortly after his birth of his diagnosis but also that they couldn’t tell us any more about how he would develop...Read full bio
In 1983 my partner, Peter, and I first met as founder members of a company designing technology for schools; 30 years later we still run the company. In 1990 our first child, Lucy was born with an unbalanced translocation (10p13pter-/dup5q35.2qter+) and I ...Read full bio
I initially became involved with Unique shortly after my second daughter, India, was diagnosed with an unbalanced translocation (duplication 18q21.1 to qter, deletion 18p11.32). At the time she was three weeks old and had been admitted to hospital after struggling to breathe...Read full bio
I am delighted to become involved with Unique. Our grand daughter Maya has a 10Q26.1 deletion, and after her diagnosis at one month old, I contacted the charity. Beverly and her team gave our family such comfort and support and I decided to run the London Marathon for them...Read full bio
Following completion of my English degree at Durham University, I took a teachers’ training diploma. During the course of that training I had many weeks of student teaching experience some of which was spent in a ‘special needs’ school (as it was then called)...Read full bio
I am Edna Knight, Unique’s Life President and a Trustee. I started the group with four other families back in 1984. I have been blessed with four daughters and in 2012 a little grandson Jack who is adorable...Read full bio