help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

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Data Protection & Privacy Policy

...any person(s) from or about whom we collect personal information/data. Personal information/data is information that can be used to identify a living individual, for example name, address, telephone number or...

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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...

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Professionals

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

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Annual Reports

...Please use the link above to view our online accounts for the financial year ending 31 March 2023. The report contains details on how Unique is run and how and...

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Support Us

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

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Mental health & wellbeing

...can I get help and support when the Unique team is not available? IF THERE IS AN IMMEDIATE RISK OF HARM TO YOU OR SOMEONE ELSE: This is an emergency:...

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Gift ideas and useful websites

...through gentle, calming vibratio. Based in the USA. Lights infinitylights.comBased in the USA LED writing board http://www.kootchyproducts.co.uk/ multi-sensoryworld.co.uk There is a facebook group devoted to Christmas presents for children with...

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Touch the Sky released for RareChromoDay 2024

...to organise. Click here to download it for free. We also produced a reel to show you how you can do it: https://www.instagram.com/reel/CtRpi-6ADE7/ Share our Awareness Day Posters We’ve created...

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Families

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

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Terms & Conditions

...will not be liable or responsible in any way for any Content in the interactive areas on its website, including, but not limited to, any errors or omissions in the...

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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...

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

...in an emergency.  Here are links to other sources of support in the UK if we are not immediately available. IF THERE IS AN IMMEDIATE RISK OF HARM TO YOU...

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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...

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Cookie Policy

...help us improve this site. The cookies collect information in anonymous form, including the number of visitors to the site, where visitors have come to the site from and the...

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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...

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Equal Opportunities Policy

...aim to be an inclusive organisation in which individual differences are recognised and valued and this policy is intended to ensure that all members, member families, potential members & their...

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Advertising Policy

...and is not responsible for the content of third party links. Links are not included on our site for financial gain or for benefits in kind. It is the policy...

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News

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.

...insistence on sameness, and differences in social behaviour. It is also very important to consider whether behaviours are learned and if the person has difficulties letting others know what they...

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

...be in touch with more details. If you are interested in taking part but are unable to commit to the times above, please get in touch too! Online Survey We...

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

...colleges in the UK and can be accessed here. https://is.gd/covid19_gosh The purpose of the tool is to open a conversation with the patient’s primary physician –it does not replace individualised advice. ...

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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/...

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New Research Study: Children with 3q29 deletion or duplication

...with rare genetic disorders. We are now in the second phase of our study called IMAGINE 2. In the first phase of IMAGINE ID we successfully enrolled over 3,000 individuals...

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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...

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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...

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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...

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IMAGINE ID: New Participants Urgently Needed

...a diagnosed genetic condition with intellectual disability, learning difficulties or developmental delay. To find out more information please visit IMAGINE ID or contact the team on imagine.id@nhs.net or 01223 254631...

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Unique Volunteering Experience - Joe Butt

...variations in DNA sequences that lead to differences in people and the medical conditions that can sometimes occur. However, during my studies I realised that I had no idea of...

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Unique supporter Adam Astill on how we help families

...can donate via Facebook by clicking here Festive Shining Stars! Video transcript: Hello I’m Adam Astill and I’m a big supporter of Unique and I’m in complete awe of what...

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A Unique Experience

...my understanding, so it can help inform my practice in genetic counselling as I continue in my career. Lastly, in a call to arms to my fellow colleagues in the...

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Christmas......Sorted!

...something for all tastes. Check them out at our Shop. Just click Shop above to buy yours today. Below are just two of the designs (available in packs of 10):...

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Translating Unique's Chromosome Disorder Guides

...ill. Claire was very helpful in finding two other experts who would help, but the latter half of the information guide still remained. In the spring of 2020, I got...

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

...are now in the second phase of our study called IMAGINE 2. In the first phase of IMAGINE ID we successfully enrolled over 3,000 individuals and are incredibly grateful to...

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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...

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Stay Calm Project - New Research Study

Emotional outbursts can be a particularly significant problem for individuals with neurodevelopmental disorders and/or intellectual disability. If you are a parent/carer of an individual between the ages of 6 and...

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Gift Ideas and Useful Websites

...we’re sharing in case other families would find them useful too. We’re not endorsing any of the products or companies included so please make sure you thoroughly check them out...

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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’...

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New Research Project: Communication in Children with Genetic Conditions

...are interested in families who have a child aged between 2 years and 15 years 11 months old with a gene change or chromosome deletion involving the following: SYNGAP1 gene...

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What is an Array-CGH?

...Ramachandrappa and Consultant Genetic Counsellor Dr. Vishakha Tripathi, the aim is to cut through some of the more complex terms in an accessible, straightforward way. We think this ‘jargon buster’...

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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...

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

...your family can still participate in the study. What is involved with taking part? We will ask the parent to complete an online questionnaire about the child(ren) We will also...

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New Adult Sibling Research Opportunity

...to their affected brother or sister Able to take part in an interview (online, phone or face-to-face) and provide consent for themselves Please pass on the information to anyone in...

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

...about the study, please get in contact with me if you are interested in taking part and we can discuss it further. My email is JacobsC2@cardiff.ac.uk Many Thanks, Clare” Participant-Information-Sheet-Version-5-Unique-and-age-change-Clare-Jacobs-00000002Download...

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Scaling the Heights...

...course!). Leo’s mum Katie sent us this: My name is Leo. I am 8 and a half. 2 and a half years ago I was diagnosed with KBG Syndrome, a...

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

...opportunity.’ ERN-ITHACA is a patient centred European Reference Network that helps families with rare diagnosed and undiagnosed disorders including those associated with intellectual disabilities and neurodevelopmental disorders. ESHG-Y is the...

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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...

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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:...

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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,...

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Unique's Christmas Colouring Competition!

...your completed colouring competition and email it to Arti at arti@rarechromo.org Please remember to add your name & age on the colouring competitions DEADLINE: Monday 14th December 5pm (GMT) Categories:...

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

...are conducting a study looking at Non-invasive prenatal testing (NIPT). They are inviting any women or couples in England, France or Germany who have been offered NIPT in pregnancy/ies to...

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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...

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Farewell Gill

...on for 30,000 families and an influential group that is recognised and admired not only within its own field but in the wider world. Without neglecting its primary role of...

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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,...

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Who are Unique? - A Brand New Presentation

...and let them know about our work. Click to play it below or share the link on your social media, on Whatsapp or by email. The link is: https://youtu.be/Rw-1bVBMHSY https://www.youtube.com/watch?v=Rw-1bVBMHSY...

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Unique over Christmas and the New Year

...in a crisis situation, please see our ‘crisis support’ information for further sources of help. Crisis Support InformationDownload Whilst this year’s festive celebrations may be very different to our usual...

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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....

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Martina & Lucy

Meet Lucy and her Mum, Martina! Lucy has a 10q26.3 deletion and 2q35 duplication. Martina says, “Lucy is an absolute joy. She is a wonderful little girl. She is so...

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People

Claire Andersen

...it seemed like the perfect match. In February 2017, I officially joined the Unique team as a part-time scientific communications officer, primarily involved in updating and writing new guides. One...

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Anna Pelling

I was very happy to have been given the opportunity to join Unique in 2015 as one of the Information Officers. I help research, write and update Unique’s information guides...

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Disorder Guides

The G-Word Podcast: Shining a Light on Rare Conditions

...story and how her diagnosis enabled them to connect with other parents of children with similar conditions through the charity Unique. Shaun and Sarah also discuss their role in writing...

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