Professionals

Families

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...

Mental health & wellbeing

...your GP as long as you are registered with a GP at: www.nhs.uk/service-search/find-a-psychological-therapies-service These services offer therapies, such as cognitive behavioural therapy (CBT), for common problems including stress and anxiety....

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Glossary

...Nonsense describes a gene variant that results in a protein-coding sequence being altered so production of the protein stops prematurely. This results in a shorter (truncated) protein being made that...

Data Protection & Privacy Policy

...RCDs and their effects in anonymous format to research and write guides, provide support and information to other members and clinicians and for research into and raising awareness of RCDs....

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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...

Gift ideas and useful websites

...UK Toyella toyella.com/is a lovely website. Unusual gifts you cant buy elsewhere in the UK Mastermind toys mastermindtoys.com/ Based in Canada. Toys & Games for Developmental Delay fatbraintoys.com/search.cfm?q=developmental+delay. Based in...

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

...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...

Equal Opportunities Policy

...their gender, age, sexuality, ethnic origin, religious beliefs, marital status, nationality or ability, who may wish to become a member of the group. Principles of the policy Discrimination in respect...

Registered Chromosome Disorders, Copy Number Variants & Gene Variants

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...

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....

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!...

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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.

...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...

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/...

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...

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...

IMAGINE ID: New Participants Urgently Needed

...disease and participating in research, Avery. The response to Avery has been overwhelmingly positive. Every family is sent a copy when they join the study; it is also available to...

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

The British Pakistani community has a high incidence of rare genetic disorders. Families affected by these disorders can spend years in search of a precise genetic diagnosis.  Research into rare...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...was the word ‘genome’ created? 8.     Name a radioisotope that has been used for radiolabelling in Sanger Sequencing: 9.     How many members does Unique have (+/- 100)? 10.  How many languages...

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

...current research in this area. My hope is that I can disseminate the results of this study so that genetic counsellors can understand the views of parents and develop their...

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’...

Brand New Info Guide for Rare Disease Day 2024!

...you have, you are not alone! At Unique, we are often asked if we can help to explain the genetic results our members have received in a lab report, so...

UK Rare Diseases Framework

...rare disease community. The survey received a fantastic 6,293 responses from the community! Using the results from the survey, an Editorial Board of policy officials, representatives from clinical practice and...

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...

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...

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,...

We are Recruiting!

...and SNVs associated with developmental disorders. You’ll also need to know how to interpret karyotypes and results of analyses such as array-CGH and DNA sequencing. A background in genetics, genetic...

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...

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...

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...

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/...

Farewell Gill

...poured over her few photocopied newsletter sheets, absorbing every word. Other parents joined Edna’s group, including accountant Nigel Barrett (treasurer) and research biologist Beverly Searle. With genetics professor Maj Hulten...

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

...what are the priorities for people with rare conditions. The Manchester Rare Conditions Centre and Manchester Biomedical Research Centre are working to improve the future diagnosis, treatment and research of...

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...

Sarah Wynn

...Science degree in Medical Genetics PhD – Doctor of Philosophy degree in Genetics DIC – Diploma of Imperial College in Genetics MRSB – Member of the Royal Society of Biology...

Interpreting genetic test results