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

...85258 is a free, confidential, anonymous text support service. You can text from wherever you are in the UK.: https://giveusashout.org/get-help/ MIND 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/...

Donate

Data Protection & Privacy Policy

...the Information Commissioner’s website at www.ico.gov.uk What information do we collect? We collect various different types of personal information: 1. When you join us as members of Unique: Families Your...

Support Us

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

Families

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...

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 Day 2023

...Here are a few ideas for your ‘Unique23’…. Donate your change: Why not fill up a small jar with your change? Guess the number of sweets in a jar: fill a jar...

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...

Awareness Week

...some awareness-raising materials If you’re planning an event and would like some awareness-raising materials, e.g. Unique flyers or balloons, please contact us: Email: craig@rarechromo.org or caroline@rarechromo.org Tel: +44 (0)1883-723306  ...

Equal Opportunities Policy

...are assisted where possible to gain access to our services. All employees & volunteers have a legal and moral obligation not to discriminate and to report any incident of discrimination...

Annual Reports

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)...

Disorder Guides

Rare Chromosome & Gene Disorder Guides Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages. Please note...

Join Us

...details, with your consent for us to register you as a member and contact you in the future, via email, post or phone: E-mail: membership@rarechromo.org Tel: +44 (0) 1883 723356 Post:...

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.

...the presentation:   Findings from high quality research studies in genetic syndromes www.findresources.co.uk Cerebra’s Pain guide for parents www.cerebra.org.uk/download/pain-a-guide-for-parents/ Research papers (freely available research papers – search by name) www.researchgate.net...

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

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...

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/...

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...

Farewell Gill

...features and profound frailty. When a sample of my blood allowed a cytogenetics lab to provide her eventual diagnosis: unbalanced translocation with 5q35.2 duplication and 10p13 deletion: the clinical geneticist...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...support Unique. To participate, follow the instructions below: Visit Flora’s Just Giving page and make a donation: https://www.justgiving.com/fundraising/RareChromoQuizForPros Complete the quiz below and email your answers to Flora at Flora.joseph@nhs.net – if you...

Unique supporter Adam Astill on how we help families

...kids!). Adam is a great supporter of Unique and recently took time out to record a short video message about the work we do to help families. https://youtu.be/1wDm9K_cACM David Astill...

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...

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

...so, we would like your advice on how best to communicate our research and findings within the community.  Confidentiality: We are aware that this discussion will focus on sensitive topics....

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...

Understanding Conversation - XXX, XYY or XXY Syndromes

...taking part in the study will complete some fun language activities on the computer. Families are free to choose whether their child plays the games with their family at home...

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

Study title: The impact of copy number variants on cortical network dynamics About our study We are a research team based in Cardiff University and we are interested in the...

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

Study title: Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders (DiGEN) About the study We are a research team based across Cardiff University...

New Picture Book for Children

...useful for and relevant to lots of different chromosome and gene disorders. Please click here to read and download it for free (click on Chromosome Disorder Guides – English and...

Brand New Information Guides....

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...

A Unique Experience

...like me and my colleagues support both Unique and their members. I already knew there was an ‘army of professional volunteers’ that helped in the reviewing of the information guides,...

New Guide for Young Family Carers

...disorders. Please click here to go to our selection of practical family guides where you can download this and other guides for free. Unique Practical Guide to help Young Carers...

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!

...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...

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...

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,...

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...

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/...

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

...conditions to: Shape the research, services, and support available to people living with rare conditions. Provide strategic advice to the Manchester Rare Conditions Centre and the Manchester Biomedical Research Centre....

Martina & Lucy

...and shares their story about how Unique offers hope to families by showing them that they are never alone. Find out if Unique can support you and your family at www.rarechromo.org...