help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

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Professionals

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

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Donate

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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...

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Data Protection & Privacy Policy

...reflect changes in the law or guidelines from appropriate regulators such as the Information Commissioner (www.ico.org.uk). Please check our website (www.rarechromo.org) regularly for details of any such changes. Any questions?......

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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

...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/......

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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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Families

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

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

...Text SHOUT to 85258 for immediate support, 24/7. Shout 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......

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Awareness Week

...for? Click below to download the competition….. Click here to enter the 2019 Gene the Bear Colouring Competition When you’re ready, just email a scan of the finished, coloured-in version......

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Awareness Day 2023

...craig@rarechromo.org ….. he’ll be pleased to hear from you. Wear that you care! Our awareness wristbands and discreet pin badges are available from our online shop. Click here or visit......

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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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Glossary

...embryos that form during IVF treatment. It is used to detect common or suspected genetic disorders. There are different types of PGT. PGT-A preimplantation genetic testing for aneuploidies. This test...

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Join Us

...comment belowPrefer not to answer/can't remember How did you hear about Unique? More Information. Thank you. We will be in touch shortly. If you have not received an email from...

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Resources

Do take a look around the site but to help you find your way around, here are quick links to some of our most popular pages:...

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Equal Opportunities Policy

...will be given a copy of this policy and appropriate mechanisms will be put in place for monitoring purposes. In addition, it will be displayed on the organisation’s website, www.rarechromo.org...

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Terms & Conditions

...other participants when using them. If you have any questions please email marion@rarechromo.org Code of Online Conduct By participating in any social network, chat room, message board, or other interactive...

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Cookie Policy

...pages they visited. Click here for an overview of privacy at Google For further information please email info@rarechromo.org or rarechromo@aol.com Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th...

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Practical Guides for Families

Keeping you informed To read and download any of our practical guides for families, including our brand new Self-Isolation Resources Guide, click View below. If you would like to see...

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Annual Reports

...charity. Annual Report and Accounts 2021 (Registered Charity 1110661, Company Number 5460413) Please use the link above to view our online accounts for the financial year ending 31 March 2021....

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Disorder Guides

...you are interested. Information is not intended to replace professional medical advice. Before downloading a guide, we recommend reading our Disclaimer and Copyright Notice. (Page last updated 2nd October 2020)....

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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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Become a Volunteer

...please email us at volunteer@rarechromo.org We will ask you to complete a short form and, if appropriate, offer a short, informal interview to ensure we meet each other’s expectations, answer......

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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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Brand New Guide: Mental Health & Wellbeing

...mental health problem, you are not alone in feeling the way you do. Check out our wellbeing support page at https://rarechromo.org/wellbeing/ and also our crisis and support page at https://rarechromo.org/crisis-support/...

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Brand New Info Guide for Rare Disease Day 2024!

...interpreting your/your child’s genetic report, please get in touch with Unique (help@rarechromo.org) or contact your local Genetics service. You may also find Unique’s Glossary of Genetic / Genomic terms helpful....

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Unique's range of free to downloadΒ  '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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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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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...

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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...

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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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Unique's Christmas Colouring Competition!

...small prize. 5 runner-ups will have their colouring competitions pictures posted on Unique’s website and social media pages. Any questions? Email Arti at arti@rarechromo.org Happy Colouring! Unique’s-Christmas-Colouring-Competition (JPEG)Download Unique’s-Christmas-Colouring-Competition (PDF)Download...

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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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Farewell Gill

...be overwhelming. Lulu is a real ‘people person’. Wherever she goes in London, someone will come up and introduce themselves to Lulu’s companion, saying, “I know Lucy from school/college/a playscheme/an...

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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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What does a Genetic Counsellor do?

...role of a Genetic Counsellor in the NHS. It covers why you might be offered an appointment and what you’re likely to discuss. Please click below to watch it. https://youtu.be/eW5BZ2VA1Vo...

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New Picture Book for Children

We’ve just published a brand new picture book for children. ‘My Chromosome Story’, written by Seonaid Beaumont is aimed at children with a 1q21.1 microduplication but contains lots of information...

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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...

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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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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 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

...Georgia, regarding the translation of our Unique guides. Dr. Tkemaladze is a clinical geneticist, as well as the head of the Department of Molecular and Medical Genetics at Tbilisi State Medical University. Dr. Tkemaladze explained that...

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Translating Unique's Chromosome Disorder Guides

...English. Many Swedes are good at speaking and understanding English on a daily basis, but when it comes to reading or writing, that might be a whole different story. With...

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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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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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How genomics helped get a diagnosis

...Genomic Test Directory play in delivering diagnoses and links to potential treatments for people living with a rare chromosome or gene disorder. Here is a home video from Gavin about...

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National Conversation on Rare Disease: Make Sure Your Voice is Heard

...face. Please take the opportunity to complete the survey using the link below by Friday 29th November 2019 and make sure your voice is heard. The survey link is: https://dhsc-mail.co.uk/form/Sx1iaZDJ/12fe439d08333dcf0e23be36/...

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KBG Syndrome Family Day (UK)

...13th July 2019 at Wills Memorial Building. Please click here to open a flyer about the event. The event is by registration. To register, you need to email KBGfamilyday@gmail.com  ...

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100,000 Genomes Project: Highlighting the Impact of Participant Data

...evolving and their approach to analysis. Click here to read a highlights blog and find a list of the Q&As. You can view a recording of the webinar here: https://vimeo.com/775813073/b6f9e19ccb...

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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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What is DNA Sequencing?

...Shwetha 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’ from...

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New Adult Sibling Research Opportunity

...Cardiff University. Recruitment to the study will primarily be through Unique and Francesca is hoping to interview between 10-15 people in total. This brand new research study will focus on...

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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...

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

...any further information, please contact Hannah via email- thomash66@cardiff.ac.uk or telephone- 02920 688757. Note. This study is not being run by Unique. Please address any queries to the research team....

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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...

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

...Your children will also complete some computerized puzzles and quizzes. We will ask for a blood and/or saliva sample to help us to further understand the underlying causes of the...

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A Unique Experience

...genetic counselling. She is due to qualify as a registered genetic counsellor in 2020. Since the beginning of my training I have heard about Unique. In NHS clinical genetics departments,...

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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...

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

...take part in an interview (which can be conducted in English, German or French). Participants are eligible to take part whether they accepted or declined NIPT. For further information please...

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Guidance on shielding and protecting people who are clinically extremely vulnerable from COVID-19

New guidance is available for people living in England who were previously advised to shield. Children who are clinically extremely vulnerable are advised not to attend school. Appropriate arrangements should...

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Imagine ID research findings

...rare genetic variants associated with intellectual disability. Click here to read the full paper. A summary is also available in written and video format on the Imagine ID website: https://imagine-id.org/news/imagine-id-research-publication/...

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Welcome Anita!

...of the issues faced by Unique families, particularly in the early days. Please click here to read more about Anita. If you would like to contact her, please email anita@rarechromo.org ...

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Paydata Ltd Supporting Unique

...planned. If your employer supports a charity, why not nominate us. We can help with any information or support you need. Just drop us a line on email to craig@rarechromo.org...

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

...email Grainne Colligan on grainnec@safh.org.uk, Dr Saghira Malik Sharif on saghiram.sharif@nhs.net or Dr Shwetha Ramachandrappa on Shwetha.Ramachandrappa@gstt.nhs.uk. Your contribution will shape the research we do and how we communicate it....

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

...inform the care of families, both now, and in the future. What is involved with taking part? Our study involves working with both UCL and Cardiff University. The Cardiff Team...

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Paydata: Target Smashed!

...even just supports a charity from time to time, why not think about nominating Unique? Just email craig@rarechromo.org if you have any questions or need some information about the charity....

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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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People

Louise Jeffree

Hi there…. I’m Unique’s Finance Officer, having joined in April 2017. My background is in Compensation and Benefits within Human Resources so I have always enjoyed working with numbers......

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Charlotte Wilmshurst

...this role, I am completing a Masters in Genomic Medicine at Imperial College London. I have worked as a carer in my local community in various positions, have completed a...

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Francesca Wicks

...I will be studying an MSc in Genetic and Genomic Counselling at Cardiff University. I look forward to speaking to and meeting many more Unique families. Francesca Wicks BSc(Hons) francesca@rarechromo.org...

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Craig Mitchell

...fundraising, making a donation or if you have any skills that you feel may be of use to Unique. Email craig@rarechromo.org or call +44(0)1883 723306 Craig Mitchell BA(Hons), PGCE, MInstF(Dip)...

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Claire Andersen

...mine who works as a paediatrician recommended getting in touch with Unique. As a doctor, she knew how valuable the accurate and compassionate information provided by Unique was to families....

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Sarah Wynn

...have any questions or would like to join or know more about Unique: sarah@rarechomo.org. Sarah Wynn PhD is the editor of the Unique website. This is an explanation of her...

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Anna Pelling

...happy to have been given the opportunity to join Unique in 2015 as one of the Information Officers. I am responsible for researching and writing or updating Unique’s information guides......

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Anita Davis

Hi, I am Anita and I am delighted to join the Unique team. Professionally I have worked as a Midwife for the last 26 years.......

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Gemma Mitchell

Hello, I am Gemma. I work as an Administration Officer for Unique. My main job is to keep the database updated and I am currently engaged in a rolling programme...

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Disorder Guides

Inverted duplication & deletion of 8p Polish

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DDX3X syndrome Spanish

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Trastorno asociado a IQSEC2 Spanish

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Xp11.2 duplications Spanish

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XYY syndrome Spanish

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SOX5 syndrome Lamb-Shaffer syndrome 12p12 deletions Russian

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Xp11.2 duplications Russian

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SLC12A2 syndrome and SLC12A2-related deafness Russian

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ZMYND11 related syndromic intellectual disability

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Cantu syndrome Russian

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HNRNPU-related disorder Russian

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12p Duplications Russian

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HUWE1-related ID Russian

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Pallister-Killian syndrome Russian

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SETD5 Spanish

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SETD5 and 3p25 deletion syndrome Russian

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22q13 deletions Phelan-McDermid syndrome Italian

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5q14.3 deletions Russian

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NONO-associated X-linked ID syndrome Russian

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FOXP1 syndrome Russian

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15q14 deletions Russian

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BRPF1-related disorder Russian

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DDX3X syndrome Russian

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2p16.3 (NRXN1) deletions Russian

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GRIN2B related syndrome Russian

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Au-Kline syndrome (HNRNPK LOF variants and 9q21.32 microdeletions) Russian

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PCDH19-related epilepsy Italian

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Trisomy 14 mosaicism Russian

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Deletions and microdeletions Malay

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SOX11 syndrome and 2p25.2 deletions Russian

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TUBA1A related tubulinopathy Russian

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10q25 and 10q26 Deletions Russian

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5q14 Duplications Russian

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BRPF1 related disorder Spanish

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STXBP1 disorders Russian

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TBCK syndrome Spanish

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SATB2 syndrome (Glass syndrome) Russian

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RHOBTB2 syndrome Russian

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CACNA1C Timothy syndrome Russian

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HUWE1-related ID Spanish

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22q13 deletions Phelan-McDermid syndrome Spanish

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Duplicazione invertita e delezione di 8p

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NONO-associated X-linked ID syndrome Spanish

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Inverted duplication & deletion of 8p Spanish

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1q21.1 microduplications Italian

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7q11.23 duplication syndrome Polish

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CLTC-related ID Russian

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