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Unique GLOSSARY of genetic / genomic terms General Acrocentric a chromosome whose centromere is close to the end of the p-arm (chromosomes 13, 14, 15, 21 and 22). Allele different...
READ MORE >Do take a look around the site but to help you find your way around, here are quick links to some of our most popular pages:...
READ MORE >These Terms and Conditions apply to everyone using the Unique Members Area including social networks such as Facebook and Twitter. Unique believes that online social networks, chat rooms, message boards,...
READ MORE >You can download copies of Unique annual reports and accounts by clicking on one of the links below: Unique Annual Report and Accounts 2023 (Registered Charity 1110661, Company Number 5460413)...
READ MORE >Unique is a charity and receives no government funding. To continue our work, we rely on voluntary donations and fundraising from registered members, their families, friends and work colleagues as well as the general...
READ MORE >Rare Chromosome & Gene Disorder Guides and other Resources Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various...
READ MORE >Use of Cookies by Unique Cookies are small text files that are placed on your computer by websites that you visit. They are widely used in order to make websites...
READ MORE >Keeping you informed To read and download any of our practical guides for families, including our brand new Self-Isolation Resources Guide, click View below. If you would like to see...
READ MORE >Accessibility Options We at Unique are committed to offering a website that is accessible to the widest audience possible, regardless of the technology available to them or their own ability....
READ MORE >The Unique website www.rarechromo.org does not carry advertising and none of the space or content has been sold or leased to any third party for the purpose of generating revenue....
READ MORE >This policy document sets out how Unique collects, stores and uses the personal data you share with us, for example when you join us as members, fundraise for us, make...
READ MORE >Introduction Unique – Rare Chromosome Disorder Support Group is fully committed to equality of opportunity and service provision and is opposed to all forms of unfair or unlawful discrimination. We...
READ MORE >This Web Site Copyright © Unique – The Rare Chromosome Disorder Support Group 2020 Although great care has been taken to ensure the accuracy of the information in this website,...
READ MORE >Our Aims 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...
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READ MORE >Registered Chromosome Disorders, Copy Number Variants & Gene Variants Unique has the following rare chromosome disorders, copy number variants and single gene variants in its membership. When searching for a...
READ MORE >This year is the 6th Global Rare Chromosome Disorder Awareness Week which will run from Sunday 16th – Friday 21st June. #shinebrighttogether We want to celebrate and educate……shine bright together...
READ MORE >By Unique’s Family Support Officer, Marion Mitchell. For those of you (like me) who find it hard to buy gifts for your chromosome/gene cutie, I have created this to help...
READ MORE >Unique has been supporting, informing and networking families and individuals affected by a rare chromosome disorder since it was founded by Edna Knight MBE in the UK in 1984 as...
READ MORE >If you have forgotten your Unique member password, please enter your membership details, old username and new password in the boxes below and press the button labelled Set Password. This...
READ MORE >If you have already joined Unique’s family membership, then you can access this family members-only area by completing all the details below. When entering your membership number, make sure to...
READ MORE >Keeping you informed Rare chromosome disorders include extra, missing or re-arranged chromosome material but do not include the more common chromosome conditions such as Down’s Syndrome. Unique also deals with...
READ MORE >Registered Charity Number: 1110661 Name: Rare Chromosome Disorder Support Group, a company limited by guarantee, also known as ‘Unique’ Company Registration Number: 5460413 Place of Registration: England and Wales Registered...
READ MORE >Click on the arrow below to play a video which is a great new animation from Great Ormond Street Hospital and charity (GOSH). It will help you to discover what...
READ MORE >It’s been another very busy year for Unique – welcoming and helping more families than ever before, providing information and support about a wide range or rare chromosome and gene...
READ MORE >The existing UK rare disease strategy finishes at the end of 2020. The government intends to produce a “rare disease framework” to follow on from this strategy to improve the...
READ MORE >Cerebra and Cardiff University are working on a project aimed at improving mental health information and services for children with rare genetic conditions. Cerebra are a national charity who work...
READ MORE >Just published and available free of charge, Information Guides to: 8p inverted duplication and deletion – click here to read and download 15q11.2 microduplications – click here Further Education, Training...
READ MORE >Emotional outbursts can be a particularly significant problem for individuals with neurodevelopmental disorders and/or intellectual disability. If you are a parent/carer of an individual between the ages of 6 and...
READ MORE >At the end of June, a trainee genetic counsellor, Nezzy Evans, joined Unique for 2 weeks to learn more about what our charity does and how we fit in the...
READ MORE >Unique are seeking a new, part-time Information Officer (Family Support). You will help provide support and information to families living with Rare Chromosome and Gene disorders, act as a first...
READ MORE >BINGO stands for Brain and Behaviour In Neurodevelopmental disorders of Genetic Origin. BINGO is a research project involving researchers from the MRC Cognition and Brain Sciences Unit (MRC CBU), University...
READ MORE >Friendships and support networks have been formed between Unique families across the world, often between families whose children have quite different chromosome and gene disorders. Click here to read about...
READ MORE >Please click here for details of a new research study looking at FOXP2 and in particular, the connections between genetic changes and speech and language in children and families. Note....
READ MORE >Unique provides various services such as our helpline, numerous information guides and a magazine and we hold regular regional family social events. We also maintain various social media resources like...
READ MORE >Families in the UK who have a family member affected by KBG Syndrome are invited to a family day in Bristol on Saturday 13th July 2019 at Wills Memorial Building....
READ MORE >At the beginning of 2018, our friends at Paydata selected Unique as their ‘Charity of the Year’ and set about hitting the ambitious target of £5,000. One of their colleagues,...
READ MORE >Our Family Support Officer Marion has created a list of books, toys, websites, clothing and other items that we’ve heard about or Unique members have said their children like and...
READ MORE >Researchers at the University of Oxford are exploring the difficulties some children can have in understanding conversation. In order to learn more about these communication problems, they are inviting families...
READ MORE >Giving Tuesday is the perfect antidote to the shopping craziness of Black Friday, a day to give something back and support a charity close to your heart. So far in...
READ MORE >This year, Unique will receive a grant from Jeans for Genes (Genetic Disorders UK) towards a Study Weekend for 16p11.2 deletions and duplications. For Jeans for Genes Day, one of...
READ MORE >The follow up to the animation My Genome Sequence explains some of the current limitations and uncertainties of genome sequencing.It’s a short follow-up animation, aimed at young people and is...
READ MORE >It’s a week to shine a spotlight on all those special people affected by rare chromosome and gene disorders and their families. Running from June 17th-23rd, each day has a...
READ MORE >Unless you’ve been in hibernation for the past few months, you’ll know that data protection law in the European Union (including the UK) changes on May 25th 2018 when the...
READ MORE >In addition to our Information Guides to specific rare chromosome and gene disorders, we now have a range of free to download practical guides for families. These are free to...
READ MORE >IMAGINE ID is collecting information about children and young adults with a genetic diagnosis related to learning disabilities. The study hopes to recruit 5,000 families worldwide and wants to answer...
READ MORE >Together with our patron, Baroness Pauline Neville-Jones, we alerted the Government to the risk posed by new data protection laws (‘GDPR’), coming into force in May 2018, to the wealth...
READ MORE >We were recently selected by UK-based reward management consultants Paydata Ltd. as their Charity of the Year. Staff held a vote but after a presentation given by Unique member Helen...
READ MORE >We’re pleased to publish our new family guide to support our young carers, who help with looking after a relative who has a rare chromosome or gene disorder. This is...
READ MORE >Our #shiningstar today is the adorable Theodore. “The day Theodore was born we knew he was unique. He struggled at the beginning and we were lost for a while because...
READ MORE >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...
READ MORE >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...
READ MORE >Hi, I’m Sarah. I’m really pleased to have recently taken on the role of CEO of Unique, following Beverly’s well-earned retirement after many years of dedicated service. I’ve been involved...
READ MORE >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...
READ MORE >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...
READ MORE >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...
READ MORE >My son Max has a duplication 9p23.1p13 and deletion 9p23.1p23.3) and I also have a younger daughter. Unique changed our lives when we were told shortly after his birth of...
READ MORE >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 Unique’s information guides...
READ MORE >Hi , I’m Helen. My younger son Patrick had a profound speech and communication delay which lead him be tested at the age of 4 years in 2009. This found...
READ MORE >I am Edna Knight, Unique’s Life President and a Trustee. I started the group with four families back in 1984 as the Trisomy 9 Support Group which subsequently became Unique....
READ MORE >I’m Unique’s Chief Operating Officer and work on fundraising, administration and infrastructure, basically anything to support the frontline staff as they deliver services to families and professionals. My background is...
READ MORE >Beverly recently retired as CEO of Unique after having been passionately involved with the charity since the birth of her daughter Jenny in 1990, first as a volunteer and since...
READ MORE >I discovered Unique 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...
READ MORE >Hi there…. I’m Unique’s Finance Officer, having joined in April 2017. My background is in Compensation and Benefits within Human Resources so I have always enjoyed working with numbers! I...
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