help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

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Data Protection & Privacy Policy

...www.ico.org.uk Professionals We collect information from clinicians and other professionals such as social workers and researchers in order to register you as professional members, because you have contacted us or...

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Professionals

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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...

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Support Us

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Touch the Sky released for RareChromoDay 2024

...or Bake Sale At work, school or at home, a cake sale always goes down well…after all, who doesn’t love a yummy cake? Unique’s bake sale kit makes it easy...

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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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Mental health & wellbeing

...UK Free helpline 0808 808 7777 www.carersuk.org/ UNIQUE’S PRACTICAL SUPPORT GUIDES You may also find Unique’s practical support guides helpful, in particular, our Carers Wellbeing and Self-Isolation guides: www.rarechromo.org/practical-guides-for-families/ Where...

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Gift ideas and useful websites

...in the UK. To order yours, go to rarechromo.org/html/DonateWP.aspselect Buying Merchandise and tell us in the box how many bags you would like to order. Then complete your payment and...

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Families

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Awareness Week

...Kit Cake sales have always been a big hit with people fundraising and our Baking Kit is sure to help yours be a huge success….. Big Blue Bake Sale Kit...

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Terms & Conditions

These Terms and Conditions apply to everyone using the Unique Members Area including social networks such as Facebook and Twitter. Unique believes that online social networks, chat rooms, message boards,...

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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...

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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:...

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Disorder Guides

...to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and microdeletions,...

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Fundraising Events

...can get involved. Some of the things other people do include: Organising a coffee morning, Holding a cake sale, Having a dress-down day at work or school, Holding a music or comedy gig, Doing a...

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Glossary

...on the chromosome arm (the resolution of bands depends on the chromosome preparation and staining technique used). Chromosome disorder a change to the sequence and/or structure of a chromosome that...

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Practical Guides for Families

...a new topic added to this range of guides, please let us know by emailing info@rarechromo.org with your ideas. To support our work in this area to help us produce...

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Cookie Policy

Use of Cookies by Unique Cookies are small text files that are placed on your computer by websites that you visit. They are widely used in order to make websites...

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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...

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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....

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Equal Opportunities Policy

Introduction Unique – Rare Chromosome Disorder Support Group is fully committed to equality of opportunity and service provision and is opposed to all forms of unfair or unlawful discrimination. We...

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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.

...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...

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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...

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

...37.8 °C), seek clinical advice using the NHS 111 online coronavirus service (https://111.nhs.uk/covid-19/). If you do not have access to the internet, call NHS 111. Do this as soon as...

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

...working with an organisation called Involve to recruit representatives from the rare disease community to engage in a series of online workshops that will allow a diverse range of people...

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

A new patient interactive tool that allows people with rare diseases to better understand their risk of Covid19 has now been released. It is the result of a collaboration between...

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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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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...

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Unique Volunteering Experience - Joe Butt

...The online guides made by the team at Unique are not only helpful to the families affected by rare genetic conditions, but they are also incredibly helpful to people working...

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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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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”...

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Christmas......Sorted!

Buy your Christmas cards from Unique and you’ll be directly helping those with rare chromosome and gene disorders. We have brand new, colourful and very festive designs this year, something...

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A Unique Experience

...journey of families being diagnosed with a rare chromosome disorder. She got to meet all the UK based members of the team and see behind the scenes of what we...

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2019 - The Year in Numbers

It’s been another very busy year for Unique – welcoming and helping more families than ever before, providing information and support about a wide range or rare chromosome and gene...

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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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Unique supporter Adam Astill on how we help families

...30,000 people worldwide costs about 300 Grand. I mean that’s your average Premiership footballer’s weekly wage. Find out more and donate by going to Unique’s website www.rarechromo.org . Thank you!...

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Gift Ideas and Useful Websites

...you thoroughly check them out (including making sure the products are safe) before you buy anything or take any of the advice given. Click Here to go to the list...

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

...genetic disorders within the British Pakistani community may help provide British Pakistani couples with better information about their chances of having a child with a rare genetic disorder. Are you...

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The Unique Team Spreading the Word

...that our member families face. In the first three months of 2019, we have been very busy representing Unique and our member families at a wide variety of workshops, conferences...

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This week is Chromosome & Gene Disorder Awareness Week....

...leaflets, to holding a cake sale or doing some other fundraising, every little helps to raise awareness of rare chromosome and gene disorders. Join us! Click here for more details...

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New books on Small Supernumerary Marker Chromosomes and Uniparental Disomy

...Amazon at the following links: sSMCs: https://cs-tl.de/DB/CA/sSMC/0-Start.html  UPD: https://cs-tl.de/DB/CA/UPD/0-Start.html Please note, these are not publications written by Unique and we will not benefit from the proceeds of the sale of either...

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Unique members help with a book on ring chromosomes

...& Health Science Books @ Amazon.com Please note, this is not a publication written by Unique and Unique will not benefit from the proceeds of the sale of this book....

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What does a Genetic Counsellor do?

...new video from Unique is for you…. Someone might have genetic counselling for a range of different reasons. Genetic Counsellor and Unique volunteer Niamh Marshall has produced this short video...

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The CoIN Study

Covid-19 impact on wellbeing of families of children with rare neurogenetic disorder The CoIN Study will track changes in wellbeing during and after the pandemic in order to understand the...

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What is an Array-CGH?

https://youtu.be/s7WWd7zsCdU In order to obtain a diagnosis of a rare chromosome disorder, many will have undergone an ‘array CGH’ test, or an ‘array’ for short, but what is an array...

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Understanding Conversation - XXX, XYY or XXY Syndromes

Researchers at the University of Oxford are exploring the difficulties some children can have in understanding conversation. In order to learn more about these communication problems, they are inviting families...

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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...

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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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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...

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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...

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New Adult Sibling Research Opportunity

...this research will help update our Unique guide ‘Supporting Siblings of Children with a Rare Chromosome Disorder’. Can you or a family member help? To take part in the research,...

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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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Scaling the Heights...

...very rare chromosome disorder currently effecting just under 600 people worldwide. KBG syndrome causes learning and developmental delays and disabilities. For me it means I have autism, ADHD, sensory processing...

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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...

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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

...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....

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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...

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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...

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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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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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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/...

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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

For Awareness Day 2024 (#rarechromoday) on June 13th, we’ve released a brand new presentation. Going through who we are, what a rare chromosome disorder is and what we do to...

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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...

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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...

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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...

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Disorder Guides

Animation: What is an arrayCGH?

What is an Array CGH In order to obtain a diagnosis of a rare chromosome disorder, many will have undergone an ‘array CGH’ test, or an ‘array’ for short, but...

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