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Data Protection & Privacy Policy

...website, how long you were on the site, your Internet domain name and the internet browser you use. This information helps us to improve our website service. We make use...

COVID-19 General Advice

...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/ Guidance on shielding and protecting people...

Professionals

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...

Support Us

Families

Gift ideas and useful websites

...special needs: A Very SPECIAL NEEDS Christmas facebook.com/groups/193089027492954/ Special needs clothing TubieeGo https://tubieego.com/ Tubie Kids https://tubiekids.co.uk/ Brothers & Sisters (brothersandsisterslondon.com/shop) Based in the UK Incy Wincy incywincy.netTel: 0844 8754645 Sell...

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:...

Unique's Funday Friday | 19th June 2020

...2nd and 3rd place.  9am (BST) Quiz:  https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz/ 5pm (BST) Quiz: https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz-2/ Mindfulness Taster Session Join in our Mindfulness Taster Session on Zoom – from 19.45 to 20.30 BST on...

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...

Awareness Week

...a theme…. To help you get involved, we’ve given each day a special theme to help you get involved and spread the word in your own way: This year’s daily...

Glossary

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...

Our History

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...

Registered Chromosome Disorders, Copy Number Variants & Gene Variants

...are not already members of Unique. Many new families are joining Unique daily. If we do not have your details registered on our confidential members’ database and your clear consent...

Equal Opportunities Policy

...will be given a copy of this policy and appropriate mechanisms will be put in place for monitoring purposes. In addition, it will be displayed on the organisation’s website, www.rarechromo.org...

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....

Home

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.

...https://authors.elsevier.com/a/1c88o6EIwShwqA       Feedback Survey for the checklist https://www.surveymonkey.co.uk/r/RJKBP8W   Vagus Nerve Stimulation Could Help Treat Behavior in PWS   www.fpwr.org/blog/study-shows-vagus-nerve-stimulation-could-help-treat-behavior-in-pws Cerebra Legal Rights Service   www.cerebra.org.uk/get-advice-support/legal-entitlements-problem-solving-project/   From...

9p minus syndrome research project (USA only)

Dr. Cole and his team are embarking on an expansive research project involving as many members of the Chromosome 9p Minus Network as possible. This groundbreaking study takes advantage of...

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/...

Farewell Gill

...a small price to pay. Although the prediction was accurate, nothing could have prepared us for the journey ahead however, at the same consultation, the genetics counsellor not only “lent”...

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

...you are outside the UK, please check your country’s guidelines (e.g. for the US: https://www.cdc.gov/coronavirus/2019-ncov/index.html ). Please see the WellChild website for a clear 10 point plan and information specifically...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...is the candidate gene for features observed in individuals with a 3p25 deletion? 4.     How many genes are currently known to be imprinted (+/- 10)? 5.     How many genes are...

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/...

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 supporter Adam Astill on how we help families

...or whenever. Now for just 10 pounds, a family can get an understanding listening ear, information and a network of families who understand the journey they’re on. Your help is...

Unique's range of free to download  'practical' guides for families

...download and focus on more generic topics which are relevant to families caring for a child or adult with a rare chromosome or gene disorder. Topics covered include A guide...

IMAGINE ID: New Participants Urgently Needed

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...

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

...email Grainne Colligan on grainnec@safh.org.uk, Dr Saghira Malik Sharif on saghiram.sharif@nhs.net or Dr Shwetha Ramachandrappa on Shwetha.Ramachandrappa@gstt.nhs.uk. Your contribution will shape the research we do and how we communicate it....

2p16.3 Deletion Research Invitation

We have been asked by researchers at Perelman School of Medicine in the USA to let families affected by a 2p16.3 deletion or a NXRN1 gene disorder know about their...

NEW Research: Trisomy 5p

Researchers at the University of Michigan in Ann Arbor, MI, USA, are conducting research on Complete Trisomy 5p. Their aim through this research is to improve the lives of children,...

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...

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

...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

...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....

Unique's Christmas Colouring Competition!

...Adults (18+ years) Children: 2-4 years 5-8 years 9-11 years 12-15 years 16-18 years Judges will select one lucky winner to win a small prize. 5 runner-ups will have their...

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...

Scaling the Heights...

...to do something to help a little bit.” A massive thank you to Leo and Katie and GOOD LUCK!! You can support Leo at: https://www.justgiving.com/fundraising/katie-fox16 Leo – a true #shiningstar...

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...

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,...

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...

Volunteers Needed: Manchester/North West UK

...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 interest by 5.00pm on Sunday 11th February 2024....

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...