Data Protection & Privacy Policy

...collected and stored with your consent, gained when you first provide the data. Your choices relating to your consent for us to store and use your data are stored on...

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Professionals

Resources & information for professionals working with those affected by Rare Chromosome and Gene Disorders....

Support Us

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

COVID-19 General Advice

...Clinical Genetics Society and the Association for Genetic Nurses and Counsellors. Covid-Rare-Disease-info-sheet-1-Overview-1Download Covid-Rare-disease-info-sheet-2-What-makes-a-person-more-vulnerable-1Download Covid-Rare-disease-info-sheet-3-Understanding-your-own-risk-from-Covid19-1Download Covid-Rare-disease-info-sheet-4-What-to-do-if-you-are-extremely-vulnerable-3Download Covid-Rare-disease-info-sheet-5-What-to-do-if-you-have-symptoms-1Download Covid-Rare-disease-info-sheet-6-I-am-worried-about-letting-carers-into-my-home-1Download Now, read on for some general advice regarding Coronavirus (COVID-19) for patients with...

Mental health & wellbeing

...Mind https://www.mind.org.uk/ Young Minds https://youngminds.org.uk/ Samaritans If you need to talk through your feelings call 08457 90 90 90 (open 24 hours a day, charges apply) or email jo@samaritans.org Carers...

Families

Information & support for families & individuals affected by Rare Chromosome and Gene Disorders.......

Gift ideas and useful websites

...Total Sensory totalsensory.co.ukBased in the UK Sensory Plus sensoryplus.co.ukBased in the UK Jabadao jabadao.orgBased in the UK Rompa rompa.comBased in the UK Spacekraft spacekraft.co.ukBased in the UK Sensory Toy Warehouse...

Awareness Day 2023

...small presents provided by your work colleagues. Sponsored silence: This one might not be so easy for some! Get sponsored to stay silent for a long period of time for charity....

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

...have a list of other crisis services here: https://www.mind.org.uk/information-support/guides-to-support-and-services/crisis-services/helplines-listening-services/ You may also find Unique’s practical support guides helpful, in particular, our Carers Wellbeing and Self-Isolation guides: https://www.rarechromo.org/practical-guides-for-families/ NEW for 2022:...

Awareness Week

...Click here to order edible rice paper toppers from www.mycupcaketoppers.co.uk/products/unique If you need some help or guidance, just contact Caroline on email to caroline@rarechromo.org Competition: Colour in Gene the Bear!...

Unique's Funday Friday | 19th June 2020

...Friday 19th June. Please email Beverly, our CEO, on info@rarechromo.org for more detail if you’d like to be involved. Beverly’s Mindfulness teacher Sue Bolton is running this session for Unique...

Resources

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:...

Glossary

...genetic material is lost or duplicated) or unbalanced (when genetic material is also lost and/or duplicated). This type of translocation has the added complication of possible gene silencing associated with...

Terms & Conditions

...your Unique login details to anyone else. Any message you post on our forum is considered to be ‘information‘ and is recorded by us. This information is only retained for...

Cookie Policy

...pages they visited. Click here for an overview of privacy at Google For further information please email info@rarechromo.org or rarechromo@aol.com Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th...

Home

Equal Opportunities Policy

...their induction process and that staff are kept fully informed and consulted on any proposed changes. All new and existing unpaid volunteers appointed by Unique to work on our behalf...

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

Become a Member Unique supports and informs families affected by rare chromosome and gene disorders and the professionals working with them. It’s free to join and become part of our supportive...

Practical Guides for Families

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...

Become a Volunteer

...please email us at volunteer@rarechromo.org We will ask you to complete a short form and, if appropriate, offer a short, informal interview to ensure we meet each other’s expectations, answer...

Disorder Guides

...you are interested. Information is not intended to replace professional medical advice. Before downloading a guide, we recommend reading our Disclaimer and Copyright Notice. (Page last updated 2nd October 2020)....

Annual Reports

...Craig Mitchell Chief Operating Officer Unique The Stables, Station Road West, Oxted, Surrey, RH8 9EE, UK Email: Craig@rarechromo.org Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th January 2018...

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.

...Assessments, Measures & Manuals (need to create an account but then can download assessments used by Chris Oliver and his team)   www.findresources.co.uk/professionals/login FLACC pain scale cerebra.org.uk/download/flacc-pain-scale-infographic/ Autistica (includes info...

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

...Medicine, the Clinical Genetics Society and the Association for Genetic Nurses and Counsellors. Covid-Rare-Disease-info-sheet-1-OverviewDownload Covid-Rare-disease-info-sheet-2-What-makes-a-person-more-vulnerableDownload Covid-Rare-disease-info-sheet-3-Understanding-your-own-risk-from-Covid19Download Covid-Rare-disease-info-sheet-4-What-to-do-if-you-are-extremely-vulnerableDownload Covid-Rare-disease-info-sheet-5-What-to-do-if-you-have-symptomsDownload Covid-Rare-disease-info-sheet-6-I-am-worried-about-letting-carers-into-my-homeDownload 24th March 2020 General advice regarding Coronavirus (COVID-19) for patients with...

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/...

Brand New Info Guide for Rare Disease Day 2024!

Have you received a genetic lab report and struggled to interpret it and understand what all the complex scientific language used actually means for you or your family member? If...

Improving mental health info & services for children with rare genetic conditions – Can you help?

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...

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...

Unique's Christmas Colouring Competition!

...the world 🌍 To enter: Please donate a minimum of £1 at www.rarechromo.org/donate with the reason for donation as ‘Christmas Colouring Competition’ Take a photo or scan a copy of...

Join our Team: Unique are Recruiting!

Vacancy – Part-Time Information Officer (Family Support) Unique provides a specialist information and support service to families affected by rare chromosome disorders, copy number variants and autosomal dominant single gene...

Farewell Gill

...me her textbooks but passed on the telephone number of Edna Knight, who ran the Trisomy 9 Support Group where families shared their news. Edna’s girls were older and we...

Volunteers Needed: Manchester/North West UK

...to acknowledge and appreciate the time and expertise you’re sharing with them. Interested in getting involved? Find out more by visiting their website (www.mrcc.org.uk/education-engagement/werrare/) and send in your expression of...

Martina & Lucy

...determined, so strong, and nothing fazes her. We have been supported by Unique from around 20 weeks old. We would not be here today without Unique. Unique have introduced us...

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

...the needs of people who have consented to their genomic data being stored in Genomics England’s research library (the NGRL). As part of this work they are also interested in...

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

...take part in an annual survey. Eligibility criteria You have a child aged between 6 and 25 who has been diagnosed with one of the following: 1q21.1 deletion or duplication,...

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...

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...

News from Georgia

...such a dedicated group of academics! As usual, all guides will be placed on our website at www.rarechromo.org/disorder-guides and will be freely available to anyone who may find them helpful....

Translating Unique's Chromosome Disorder Guides

...the added variable of stress, written information might be even harder to digest. I found the Unique site, downloaded the information guide and looked at the scope, found Claire Andersen’s...

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

...undiagnosed disorders including those associated with intellectual disabilities and neurodevelopmental disorders. ESHG-Y is the European Society of Human Genetics Young genetics specialists members network. View our information guides at www.rarechromo.org/disorder-guides...

New Webinar: Delivering Different/Difficult News

We have been asked by our friends at the Institute of Health Visiting to share details of a forthcoming webinar focusing on delivering different, difficult or unexpected news to families...

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:...

How genomics helped get a diagnosis

NHS England Genomic Medicine Service supported Unique’s Rare Chromosome & Gene Disorder Awareness Day in June 2022 by sharing information and family stories; highlighting the role genomics and the National...

Brand New Guide: Mental Health & Wellbeing

We’ve just published our brand new guide to Mental Health and Wellbeing for parents, adults and children affected by and living with rare chromosome and gene disorders. Click here to...

Gift Ideas and Useful Websites

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...

The Law is Changing and we've Updated our Privacy Policy

...‘GDPR’ comes into force. If you’re a member of Unique, we already have your consent to store and process the personal information you gave us when you joined. The new...

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

...take part in an interview (which can be conducted in English, German or French). Participants are eligible to take part whether they accepted or declined NIPT. For further information please...

Scaling the Heights...

...going along the same journey as us and feel as though we have discovered our extended family. So to raise money for this wonderful charity I am going to walk,...

UK Rare Diseases Framework

...patient organisations formally identified and refined priorities and underpinning themes for the new framework. These ideas were further tested through stakeholder engagement with patient organisations, clinicians, researchers and industry representatives...

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

New guidance is available for people living in England who were previously advised to shield. Children who are clinically extremely vulnerable are advised not to attend school. Appropriate arrangements should...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...you think would be interested! 1.     In which year was the first observation of chromosomes made? 2.     What year was the first human gene cloned? What was it? 3.     What...

Welcome Anita!

...we think her skills and experience will be invaluable and a great fit for our existing staff team. Anita has worked as a midwife for more than 25 years, including...

Imagine ID research findings

Many Unique families participated in the Imagine ID study looking at the impact of rare genetic variants associated with intellectual disability. Click here to read the full paper. A summary...

Paydata Ltd Supporting Unique

...planned. If your employer supports a charity, why not nominate us. We can help with any information or support you need. Just drop us a line on email to craig@rarechromo.org...

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

...What you tell us is confidential and will not be disclosed to anyone outside the research team. Your name will not be mentioned in any reports or papers, nor will...

Paydata: Target Smashed!

...Helen Lallyette had been helped by Unique and she wanted us to benefit from their fundraising. It was an extra special year as Paydata celebrated their 20th anniversary. Click here...

What is an Array-CGH?

...for funding this first animation. We’d also like to express our sincere thanks to the volunteers who participated in our focus groups to help develop the animation. We are delighted...

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...

Claire Andersen

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...

Francesca Wicks

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...

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...

Anna Pelling

...these genetic changes there is very little information available for parents. Unique’s guides are not only written with information gathered from scientific literature and related databases but with information gathered...

Craig Mitchell

...in HR, operations management and communications and I have been with the charity since 2008, having previously been a Unique member. I am married to Gemma and have two girls:...

Charlotte Wilmshurst

Hello, I’m Charlotte and I’m the newest member of the team, having joined in February 2024 as an Information Officer (maternity cover). I’m excited by the opportunity to support Unique...

Anita Davis

Hi, I am Anita and I am delighted to join the Unique team. Professionally I have worked as a Midwife for the last 26 years. In the latter part of...

Gemma Mitchell

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...

Xp11.2 duplications Spanish

DDX3X syndrome Spanish

Trastorno asociado a IQSEC2 Spanish

Inverted duplication & deletion of 8p Polish

XYY syndrome Spanish

ZMYND11 related syndromic intellectual disability

HNRNPU-related disorder Russian

Cantu syndrome Russian

Xp11.2 duplications Russian

SLC12A2 syndrome and SLC12A2-related deafness Russian

HUWE1-related ID Russian

12p Duplications Russian

5q14.3 deletions Russian

SOX5 syndrome Lamb-Shaffer syndrome 12p12 deletions Russian

Pallister-Killian syndrome Russian

SETD5 Spanish

SETD5 and 3p25 deletion syndrome Russian

22q13 deletions Phelan-McDermid syndrome Italian

FOXP1 syndrome Russian

NONO-associated X-linked ID syndrome Russian

15q14 deletions Russian

BRPF1-related disorder Russian

DDX3X syndrome Russian

2p16.3 (NRXN1) deletions Russian

GRIN2B related syndrome Russian

Inverted duplication & deletion of 8p Spanish

Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) Russian

STXBP1 disorders Russian

Trisomy 14 mosaicism Russian

Deletions and microdeletions Malay

SOX11 syndrome and 2p25.2 deletions Russian

TUBA1A related tubulinopathy Russian

10q25 and 10q26 Deletions Russian

5q14 Duplications Russian

BRPF1 related disorder Spanish

PCDH19-related epilepsy Italian

SATB2 syndrome (Glass syndrome) Russian

TBCK syndrome Spanish

RHOBTB2 syndrome Russian

CACNA1C Timothy syndrome Russian

HUWE1-related ID Spanish

22q13 deletions Phelan-McDermid syndrome Spanish

Duplicazione invertita e delezione di 8p

NONO-associated X-linked ID syndrome Spanish

1q21.1 microduplications Italian

7q11.23 duplication syndrome Polish

CLTC-related ID Russian