help@rarechromo.org
Understanding Rare Chromosome and Gene Disorders

Search Results for: ♦ Cialis jelly, tadalafil, 20mg 🧡💖 www.USPharm.ORG ⧒♦ ↩. cheap pharmacy💋:Buy Cialis Jelly (Tadalafil) $3.15 Per sachet, how to get maximum effect from cialis,tadalafil dosage 40 mg,tadalafil 20 mg best price,cialis 20mg price

Pages

Professionals

READ MORE >

Donate

READ MORE >

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?...

READ MORE >

Support Us

READ MORE >

Mental health & wellbeing

...Mind https://www.mind.org.uk/ Young Minds https://youngminds.org.uk/ Samaritans If you need to talk through your feelings call 08457 90 90 90 (open 24 hours a day, charges apply) or email jo@samaritans.org Carers...

READ MORE >

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...

READ MORE >

Families

READ MORE >

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...

READ MORE >

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!...

READ MORE >

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...

READ MORE >

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:...

READ MORE >

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...

READ MORE >

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:...

READ MORE >

Join Us

...is your ethnic group? (Choose one option that best describes your ethnic group or background) WhiteMixed / Multiple ethnic groupsAsian / Asian BritishBlack / African / Caribbean / Black BritishOther...

READ MORE >

Glossary

...by genes. In the human body, there are 20 different amino acids that can be linked together to form a polypeptide. A protein may be made from one or more...

READ MORE >

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...

READ MORE >

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...

READ MORE >

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....

READ MORE >

Practical Guides for Families

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

READ MORE >

Annual Reports

...Craig Mitchell Chief Operating Officer Unique The Stables, Station Road West, Oxted, Surrey, RH8 9EE, UK Email: Craig@rarechromo.org Last edited by Beverly Searle BSc(Hons) PhD CBiol MRSB 5th January 2018...

READ MORE >

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...

READ MORE >

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...

READ MORE >

Disorder Guides

...your or your child’s condition is not listed please contact us directly (help@rarechromo.org) to check if we have any members registered with that condition. We are a very small team...

READ MORE >

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...

READ MORE >

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/...

READ MORE >

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

...for parents and carers of medically complex children: https://www.wellchild.org.uk/2020/03/18/ten-ways-to-keep-my-child-withcomplex-health-needs-safe/. This includes a helpful link to a poster to put on your front door to advise visitors to your home of...

READ MORE >

Unique supporter Adam Astill on how we help families

...we can further grow our knowledge and understanding of these rare conditions. Just visit www.rarechromo.org/donate and together we can help more families like our festive shining stars below. Alternatively, you...

READ MORE >

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...

READ MORE >

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...

READ MORE >

Farewell Gill

...avoid bias, Beverly was appointed to the full-time role with Marion Mitchell providing part-time support. At 1,200 member families, the website www.rarechromo.org was launched and, in one sense, with Beverly,...

READ MORE >

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...

READ MORE >

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/...

READ MORE >

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...

READ MORE >

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...

READ MORE >

Have you received a variant of uncertain significance for your child?

...experiences of receiving a variant of uncertain significance (VUS or VOUS) diagnosis for your child. Understanding families’ experiences and perspectives is vital for the development of best practice and ensuring...

READ MORE >

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

...so, we would like your advice on how best to communicate our research and findings within the community.  Confidentiality: We are aware that this discussion will focus on sensitive topics....

READ MORE >

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...

READ MORE >

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....

READ MORE >

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:...

READ MORE >

Volunteers Needed: Manchester/North West UK

...to acknowledge and appreciate the time and expertise 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...

READ MORE >

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...

READ MORE >

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...

READ MORE >

How genomics helped get a diagnosis

NHS England Genomic Medicine Service supported Unique’s Rare Chromosome & Gene Disorder Awareness Day in June 2022 by sharing information and family stories; highlighting the role genomics and the National...

READ MORE >

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/...

READ MORE >

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...

READ MORE >

2020 Virtual Marathon...an experience we will never forget!

...Due to Covid 19 the event was postponed to October 2020. We kept training over the summer and 7 weeks before the planned race, the organisers cancelled the event and...

READ MORE >

A Unique Experience

...so I can provide the best information and support I can to the families I see, including knowing where they can go for ongoing support following a diagnosis. I was...

READ MORE >

Unique Volunteering Experience - Joe Butt

...guides is an achievement, not to mention the invaluable support for families they provide and the events that are organised by the team. They suggested that my skills were best...

READ MORE >

NEW Research: Trisomy 5p

...find better treatments. A natural history study is the best way to study traits of individuals affected by Complete Trisomy 5P, and how these traits progress over time. A natural...

READ MORE >

Today's Shining Star

...7p22.1 . This deletion has effected much of his development, but as a family we have learned how to adapt and push him to be his best! Theodore has been...

READ MORE >

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...

READ MORE >

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,...

READ MORE >

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...

READ MORE >

UK Rare Diseases Framework

...patient organisations formally identified and refined priorities and underpinning themes for the new framework. These ideas were further tested through stakeholder engagement with patient organisations, clinicians, researchers and industry representatives...

READ MORE >

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...

READ MORE >

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 ...

READ MORE >

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/...

READ MORE >

Paydata Ltd Supporting Unique

...Lallyette, there was only one winner….. Unique! The team are preparing for 20 different fundraising challenges to celebrate their 20 years. Click here to read more about what they have...

READ MORE >

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

...take part, please email imagineID@cardiff.ac.uk for more information, or contact one of our researchers on the numbers below: Lauren: 02920 688065  Poppy: 02922 512286  Hannah: 02920 688316 More info: https://imagine-id.org/news/video/...

READ MORE >

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....

READ MORE >

What is an Array-CGH?

...and for more about Unique and #Rarechromoday 2022, please visit https://rarechromo.org/rarechromoday/ We are grateful to actor Adam Astill for narrating the animation and to the Dewan Foundation (via Joe Nicholson)...

READ MORE >

Brand New Info Guide for Rare Disease Day 2024!

...or would like help 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...

READ MORE >

People

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...

READ MORE >

Anna Pelling

...scientific literature and related databases but with information gathered from families who can give a more personal insight as to the effects of such changes. Anna Pelling BSc(Hons) PhD anna.pelling@rarechromo.org...

READ MORE >

Louise Jeffree

...for such a good purpose! If you would like to make a donation or have any finance queries, please don’t hesitate to get in touch! My email address is louise@rarechromo.org...

READ MORE >

Claire Andersen

...gives me with Unique’s members and I can’t emphasise enough how valuable the information and personal experiences you share with us are. Thank you! Claire Andersen BSc (Hons) PhD claire@rarechromo.org...

READ MORE >

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...

READ MORE >

Charlotte Wilmshurst

...life-limiting conditions and am passionate about supporting them and their families. I look forward to speaking with many of you in the coming weeks and months. Charlotte Wilmshurst BSc(Hons) charlotte@rarechromo.org...

READ MORE >

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)...

READ MORE >

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. In the latter part of...

READ MORE >

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...

READ MORE >

Disorder Guides

Xp11.2 duplications Spanish

READ MORE >

Trastorno asociado a IQSEC2 Spanish

READ MORE >

DDX3X syndrome Spanish

READ MORE >

XYY syndrome Spanish

READ MORE >

Inverted duplication & deletion of 8p Polish

READ MORE >

Cantu syndrome Russian

READ MORE >

ZMYND11 related syndromic intellectual disability

READ MORE >

GRIN2B related syndrome Russian

READ MORE >

SLC12A2 syndrome and SLC12A2-related deafness Russian

READ MORE >

Xp11.2 duplications Russian

READ MORE >

FOXP1 syndrome Russian

READ MORE >

12p Duplications Russian

READ MORE >

HNRNPU-related disorder Russian

READ MORE >

22q13 deletions Phelan-McDermid syndrome Italian

READ MORE >

HUWE1-related ID Russian

READ MORE >

SOX5 syndrome Lamb-Shaffer syndrome 12p12 deletions Russian

READ MORE >

Pallister-Killian syndrome Russian

READ MORE >

SETD5 Spanish

READ MORE >

SETD5 and 3p25 deletion syndrome Russian

READ MORE >

TBCK syndrome Spanish

READ MORE >

5q14.3 deletions Russian

READ MORE >

NONO-associated X-linked ID syndrome Russian

READ MORE >

15q14 deletions Russian

READ MORE >

BRPF1-related disorder Russian

READ MORE >

DDX3X syndrome Russian

READ MORE >

2p16.3 (NRXN1) deletions Russian

READ MORE >

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

READ MORE >

7q11.23 duplication syndrome Polish

READ MORE >

STXBP1 disorders Russian

READ MORE >

Trisomy 14 mosaicism Russian

READ MORE >

Deletions and microdeletions Malay

READ MORE >

SOX11 syndrome and 2p25.2 deletions Russian

READ MORE >

TUBA1A related tubulinopathy Russian

READ MORE >

10q25 and 10q26 Deletions Russian

READ MORE >

5q14 Duplications Russian

READ MORE >

BRPF1 related disorder Spanish

READ MORE >

PCDH19-related epilepsy Italian

READ MORE >

SATB2 syndrome (Glass syndrome) Russian

READ MORE >

RHOBTB2 syndrome Russian

READ MORE >

CACNA1C Timothy syndrome Russian

READ MORE >

HUWE1-related ID Spanish

READ MORE >

22q13 deletions Phelan-McDermid syndrome Spanish

READ MORE >

Duplicazione invertita e delezione di 8p

READ MORE >

NONO-associated X-linked ID syndrome Spanish

READ MORE >

Inverted duplication & deletion of 8p Spanish

READ MORE >

1q21.1 microduplications Italian

READ MORE >

CLTC-related ID Russian

READ MORE >