COVID-19 General Advice

#StayHomeStaySafe Check out Unique’s guide for families, containing lots of Covid-19 related information, guidance, ideas, resources and sources of help. Includes education, health, therapies, activities and much more. Click Here...

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Data Protection & Privacy Policy

...diagnosis, syndrome name if applicable, genetics laboratory report, genetic analysis result, genotype, medical information, symptoms, phenotype, other personal information about their family, medical, educational and social care correspondence, health, development...

Support Us

Find out how you can get involved to support us, from fundraising ideas to volunteer opportunities.......

Professionals

Annual Reports

...already got it. Click on the icon below to take you directly there. Craig Mitchell Chief Operating Officer Unique The Stables, Station Road West, Oxted, Surrey, RH8 9EE, UK Email:...

Mental health & wellbeing

...In the UK, CALL 999 OR 112 to get immediate support, 24 hours a day, 365 days a year. At Unique, we strive do as much as we can to...

Awareness Day 2023

...be a huge success….. Big Blue Bake Sale Kit and Poster https://www.rarechromo.org/files/Bakesalekit.pdf To download details about the Baking Kit, plus a poster to use for your bake sale, just click...

Families

Awareness Week

...awareness and doing some fundraising: eat cakes, dress down, run, walk or push, skydive…..get involved! For more details about the themes of the day, click here Unique’s Big Blue Baking...

Terms & Conditions

...that: (1) is unlawful, harmful, threatening, abusive, harassing, defamatory, libellous, invasive of another’s privacy, vulgar, obscene, racially or ethnically offensive, or otherwise objectionable; (2) infringes on any patent, trademark, trade...

Unique's Funday Friday | 19th June 2020

...and information they need, and become a part of our growing community. Due to the current circumstances, like many charities we have taken the difficult decision to postpone this year’s...

Gift ideas and useful websites

...books covering Going to the Dentist, Going to the Doctor, Going to the Restaurant, Going to the Supermarket, Going to the Hairdresser and Going Swimming. Feeling Happy, Feeling Safe kidscape.org.uk/Acolour...

Where can I get help and support when the Unique team is not available?

...OR SOMEONE ELSE: This is an emergency In the UK, CALL 999 OR 112 to get immediate support, 24 hours a day, 365 days a year. IF THERE IS A...

Members

Advertising Policy

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....

Join Us

...future, via email, post or phone: E-mail: membership@rarechromo.org Tel: +44 (0) 1883 723356 Post: Sarah Wynn PhD, Unique Chief Executive Officer, The Stables, Station Road West, Oxted, Surrey, RH8 9EE, UK...

Unique Family Members' Area Registration

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...

Equal Opportunities Policy

...of disability, race, colour, age, marital status, gender, sexuality, religion, nationality, ethnic or national origins shall not be tolerated. All decisions on membership and provision of services will be made...

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The Be-Well Checklist: Helping parents, carers and professionals to change the behaviour and improve the wellbeing of people with severe learning disability and complex needs.

...clinical experience shows us that when it comes to behaviour and wellbeing, the most important things to consider are: pain and discomfort, sensory sensitivity, anxiety, poor sleep, emotional control, impulsivity,...

NEW interactive online patient tool for people with rare diseases to better understand their risk of Covid-19

...the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT company). The tool is based on advice from major specialist colleges in the UK and...

Covid-19 Vaccinations (UK Only)

...from Contact: https://contact.org.uk/advice-and-support/covid-19/children-with-health-needs/covid-vaccination-your-questions-answered/ More information about the Covid-19 vaccination programme is available here: https://www.gov.uk/government/publications/priority-groups-for-coronavirus-covid-19-vaccination-advice-from-the-jcvi-30-december-2020/joint-committee-on-vaccination-and-immunisation-advice-on-priority-groups-for-covid-19-vaccination-30-december-2020#fn:3 Why you should register with your GP as a carer: https://www.carersuk.org/help-and-advice/health/looking-after-your-health/your-gp Unique’s Carers Wellbeing guide: https://www.rarechromo.org/practical-guides-for-families/...

Discussion groups to understand community attitudes to research on rare genetic disorders in British Pakistanis

...What are the risks and benefits associated with this study? There are no risks or direct personal benefits for you in taking part, but we hope to gain valuable information...

Unique Volunteering Experience - Joe Butt

...the CEO, and Claire and Anna, who are both scientific communication officers. I was initially amazed at how small the organisation is, for so few people to produce so many...

Genomics England Newborn Genomes Programme: help decide on principles for what conditions to look for

...pilot programme will aim to recruit 100,000 babies to gather this evidence, and GEL are working closely with parents, participants, the public as well as experts and representatives from rare...

New general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders

...written and produced by Dr Elizabeth Forsythe, Dr Lara Menzies, Kelly Kohut, Dr Nicki Taverner, Professor Eamonn Sheridan and Dr Frances Elmslie, on behalf of the British Society for Genetic...

IMAGINE ID: New Participants Urgently Needed

...purchase online. We need your help! We have successfully recruited over 2,100 participants but we urgently need more… To be eligible, individuals must be aged 4 and over, have a...

Unique supporter Adam Astill on how we help families

...Unique’s work doesn’t just benefit a newly diagnosed families, but by developing greater understanding, knowledge and awareness, it benefits all those affected whether they were diagnosed last week, last year...

IMPaCCT study: Investigating the impact of COVID-19 on caregivers and patients

...about the current needs expressed by patients and caregivers. If you have any questions please do not hesitate to get in touch at Julie.mcmullan@qub.ac.uk or visit https://www.qub.ac.uk/sites/RareDisease/News/IMPaCCtStudy-investigatingtheimpactofCOVID-19oncaregiversandpatients.html Survey link: https://www.surveymonkey.co.uk/r/IMPACCTsurvey...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...don’t know the answers have a guess, you never know! Please forward this quiz to any other genetic professionals (medics, scientist, academics, family history coordinators, secretaries, administrators, students etc) who...

Have you received a variant of uncertain significance for your child?

Sarah Wynn, one of Unique’s Information officers is also studying for a MSc in Genetic and Genomic Counselling at Cardiff University and is undertaking a research project looking at parents’...

Unique over Christmas and the New Year

...will reopen on the 4th  January 2021. During this period, you may find the information on our website useful: www.rarechromo.org. We will still have some great content going out across...

Translating Unique's Chromosome Disorder Guides

...Swedish guide in its long and short versions, and I hope more will follow! Best wishes, Kristina Photo credit: HANS ODEBERG See our chromosome and gene disorder guides at https://www.rarechromo.org/disorder-guides/...

Christmas......Sorted!

Buy your Christmas cards from Unique and you’ll be directly helping those with rare chromosome and gene disorders. We have brand new, colourful and very festive designs this year, something...

New Research: Opportunity to Take Part

...the genetics service, and to explore who is most in need of additional support.  There will be no payment or other direct benefits for taking part in this study, however...

This week is Chromosome & Gene Disorder Awareness Week....

...theme, such as ‘Telling Tuesday and ‘Warrior Wednesday’. There are lots of different ways to get involved, from simply sharing our social media posts, to distributing leaflets, to holding a...

New books on Small Supernumerary Marker Chromosomes and Uniparental Disomy

...(available in German, English, Portuguese, Russian and French) and another on ‘Uniparental Disomy’ (UPD) (available in German ad English). For those who are interested, the books are available to purchase on...

A Unique Experience

...networks all over the world. Add to that; the helpline, all the conferences, events like family days, and the regular newsletter and magazine, Unique is a small but mighty organisation,...

2020 Virtual Marathon...an experience we will never forget!

...families whom your work supports.” We want to thank all our runners – Nikki and Jamie, Graeme Weiner, Maria Wallace and friend Rach,  Sebastian Horn, Martyn Layng, Lisa Serrano and...

Today's Shining Star

...7p22.1 . This deletion has effected much of his development, but as a family we have learned how to adapt and push him to be his best! Theodore has been...

NEW Research: Trisomy 5p

...document is signed and returned, you will receive, via email, a link to the REDCap database website, where you may fill out the surveys/provide information, at your own pace. Thank...

Take Part: Research into parents’ experiences of discussing a genetic diagnosis with a young person with a learning disability

...develop their practice in this area. Clare says: “Hi, My name is Clare Jacobs and I am in the final year of studying to become a genetic counsellor, I am...

New Adult Sibling Research Opportunity

**UPDATE 31st October 2022: This research is now closed for recruitment** One of our Information Officers at Unique, Francesca Wicks, is launching a new research project focusing on understanding the experiences...

New Research Study 16p11.2 duplication, 22q11.2 deletion and 1q21.1 deletion

...not need to have a diagnosis of 16p11.2, 22q11.2, 1q21.1 deletion or duplication. If there is no sibling who can take part, your family can still participate in the study....

Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE 2)

...2p16.3 (NRXN1)deletion, 3q29 deletion or duplication, 9q34 deletion (EHMT1), 15q11.2 deletion or duplication, 15q13.3 (CHRNA7) deletion or duplication, 15q11-q13 deletion or duplication, 16p11.2 deletion or duplication, 22q11.2 deletion or duplication...

New Research Study: Children with 3q29 deletion or duplication

...children and young people’s behaviour and inform the care of families, both now, and in the future. What is involved with taking part? We would love to see you and...

Study on 16p11.2 deletion or duplication and 22q11.2 deletion or duplication

...learn more about the development of children with these deletions and duplications, which will help us better support families receiving this diagnosis in the future. If you do decide to...

Invitation to participate in study about NIPT (Non-Invasive Prenatal Testing)

...Participants are eligible to take part whether they accepted or declined NIPT. For further information please contact the researchers: Ruth Horn (ruth.horn@ethox.ox.ac.uk) or Adeline Perrot (adeline.perrot@ethox.ox.ac.uk) Or go to www.ethox.ox.ac.uk/Our-research/research-projects/nipt...

New information guide on 22q11 deletion syndrome now available in Lithuanian thanks to international teamwork

We’re sending extra special thanks today to our friends at ERN-ITHACA and ESHG-Y and Dr Rūta Marcinkutė, a native Lithuanian speaking senior clinical fellow at Guy’s and St Thomas’ in London,...

New Webinar: Delivering Different/Difficult News

...would like to book to attend the webinar, this is the link: https://www.eventbrite.co.uk/e/delivering-different-news-to-families-by-healthcare-professionals-tickets-245707306167 Please note. This is not being run by Unique. Should you have any questions, please email esther.mugweni@ihv.org.uk...

Update: Down Syndrome Bill

...click here to read a copy of the letter or post the following into your browser: www.rarechromo.org/files/dsletter21 In addition to Unique, the other organisations to have signed the letter are:...

News from Georgia

Students from the Tbilisi State Medical University involved in the Translation Project We were very excited to have recently been contacted by Prof. Tinatin Tkemaladze, MD and her team from Tbilisi,...

Unique's Christmas Colouring Competition!

⭐ Our popular Christmas Colouring Competition is here! ⭐ 🎄 Print off the photo and get colouring! 🌈 Open to everyone of all ages & abilities, wherever you are in...

UK Rare Diseases Framework

...to address the health inequalities, improve the quality and availability of care, and improve the lives of people living with rare diseases. See the UK Rare Diseases Framework here: https://www.gov.uk/government/publications/uk-rare-diseases-framework...

Join our Team: Unique are Recruiting!

...www.rarechromo.org Applications in writing, with full CV, on email to craig@rarechromo.org to Craig Mitchell, Chief Operating Officer, Unique, by 5pm on Monday, June 7th 2021. Interviews will take place during...

Scaling the Heights...

...run, jump, spin and twirl my way to the top of Mount Everest! Leo’s Mum, Katie, says, “Leo is very excited about getting a medal when he reaches the virtual...

Farewell Gill

...avoid bias, Beverly was appointed to the full-time role with Marion Mitchell providing part-time support. At 1,200 member families, the website www.rarechromo.org was launched and, in one sense, with Beverly,...

Guidance on shielding and protecting people who are clinically extremely vulnerable from COVID-19

...be made for education to continue at home. Please click this link below to view the latest guidelines: https://www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19 If you are unsure if your child is clinically extremely vulnerable,...

Volunteers Needed: Manchester/North West UK

...R Rare Group, you’ll also, meet other people affected by rare conditions, find out more about the latest developments in rare conditions and, of course, be offered £25 an hour...

Martina & Lucy

...to so many parents, so many amazing kids.” Martina speaks about her daughter, Lucy, and shares their story about how Unique offers hope to families by showing them that they...

Louise Jeffree

...have two children, Emma aged 12 and Henry aged 9 and for the last few years, whilst they were little, I worked part-time as an Administration and Finance Officer for...

Sarah Wynn

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...