Annual Reports

...the above documents please contact:To view the above links you may need Adobe Acrobat Reader. This is available as a free download from the Adobe web site if you haven’t...

Donate

Data Protection & Privacy Policy

...email address. ‘RCD’ refers to ‘Rare Chromosome and/or Gene Disorder’ We take your privacy seriously and adhere to the Principles of the General Data Protection Regulation (GDPR) and relevant European...

Terms & Conditions

...secret, copyright, or other proprietary rights of any party; (3) constitutes advertising in any form, including, but not limited to, advertising of products or services for personal or commercial gain,...

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...

Unique's Funday Friday | 19th June 2020

...few. We have seen professionals offering telehealth appointments via phone calls and/or video chats and schools offering online tutorials. A lot of these adaptations were not provided to us prior...

Awareness Day 2023

...unique children and adults and their amazing achievements. Help us shine bright together for all those living with and affected by rare chromosome and gene disorders. Here’s a few things...

Unique Family Members' Area Registration

...omit any zeroes (0) at the start of the number. Choose your own online name and password. Not yet a registered Unique family member? Just go to the Become A...

Professionals

Gift ideas and useful websites

...we’ll send them out to you. If you’re outside the UK, please email craig@rarechromo.org for costs including shipping. Dream pad integratedlistening.com/products/dreampad/Dreampad™ and Dreampad Mini™ The Dreampad™ and Dreampad Mini™delivers music...

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

...the British Society for Genetic Medicine, the Clinical Genetics Society and Aimes (a healthcare IT company). The tool is based on advice from major specialist colleges in the UK and...

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

...guide the programme. Please read on! In 2023, Genomics England (GEL) will begin a research study to evaluate the utility and feasibility of screening newborns for a larger number of...

Unique Volunteering Experience - Joe Butt

...suited to update online guides which focused on rare single-gene conditions, as some of the details on these conditions had likely changed. I have to admit I was quite nervous...

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...

IMPaCCT study: Investigating the impact of COVID-19 on caregivers and patients

Researchers at Queen’s University Belfast and University of Aberdeen are conducting an online international survey to gain an understanding of the impact COVID-19 is having on people with a rare...

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

...online and I can arrange the interviews at a time convenient to you. The interviews would be recorded so that I can analyse the data and draw out any relevant...

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

...      What is involved with taking part? We will ask the parent to complete an online questionnaire about the child(ren) We will also do an interview with the parent about...

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...

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...

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.

...Be-Well checklist in an online information event hosted by Unique on the 29th November 2020. Instead of charging for access to this presentation , we are asking people to support...

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

...the end of your participation, summarising our observations of your child. You will also see our colleagues at UCL where you will be asked to complete an online interview and...

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 Research Study: Children with 3q29 deletion or duplication

...activities, and answer some questions from us. We will also invite you to fill out some online surveys. We would also like to take a blood sample from everyone who...

New Adult Sibling Research Opportunity

...of adults with brothers or sisters affected by rare chromosome or gene disorders. Francesca is doing this research as part of her dissertation in her Genetic Counselling Master’s Degree at...