Unique supports and informs families affected by rare chromosome and gene disorders and the professionals working with them.
If you are affected by a rare chromosome or gene disorder you can join our membership for free: https://rarechromo.org/join-us/
Whole-genome sequencing is currently needed to diagnose #renusyndrome, creating significant access issues for families seeking answers. We are committed to reducing barriers and improving equity for those on the #diagnosticodyssey.
#renuhope
This #RareDiseaseDay we’re highlighting how data sharing supports diagnosis, research & families living with rare conditions.
Watch to find out how access to rare disease data can help families better understand their children’s conditions.
@uniquecharity.bsky.social @geneticallianceuk.bsky.social
Throwback Thursday to our family day in #Glasgow!
We are SO excited for our (sold out) conference this month - looking back at some of our previous event photos makes that excitement grow.
Who was at out Glasgow event last year? And where would you like to see us next?
Parker J is a jewelry business inspired by founder Rachel's son Jaxon, who was born with a rare genetic disorder. Jaxon’s resilience and individuality embody the heart of Parker J, influencing every piece they create.
Take a look here: parkerj-jewelry.com/...
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A HUGE thank you to Parker J Permanent Jewelry & Charm Bar, who donated a portion of their jewelry sales to Unique, raising a whopping $2,500 to help us support families affected by rare chromosome and gene disorders around the world.
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Today, on the 3rd of March, Unique are excited to be working on a new guide for this rare condition, keep your eyes out for the announcement soon.
For anyone affected by TRIO, you an join the Facebook group here: https://ow.ly/Fswa50YoBkL
Or join Unique here: https://ow.ly/Qbj650YoBkM
When have you felt that there has been a lack of support for you and your family in regards to living with a rare chromosome or #gene disorder?
watch our video to find out what our families said 👇
#GeneDisorder #LackOfSupport #diagnosis
🚫 #ZeroDiscriminationDay comes at a perfect time following @geneticallianceuk.bsky.social's #RareDiseaseDay report which shows that people with rare conditions experience profound healthcare inequity, compounded by other discrimination throughout their journey.
👉 https://ow.ly/vWYb50YkZa3
It's #RareDiseaseDay!
Today we join the 300 million people around the world who live with a rare condition to raise awareness, share stories and show support.
#RareDiseaseDay2026 #RareDisease
This #RareDiseaseDay, we’re highlighting how open data sharing supports diagnosis, research, and families living with rare conditions.
Watch to find out how access to rare data through @deciphergenomics.bsky.social can help families better understand their children’s rare conditions.
There are limited spaces in the Leeds Half Marathon, but you can still claim a charity place now!
The popular event takes place on 10th May 2026. Will you take on the challenge to support families with rare chromosome disorders?
👉 https://ow.ly/lckS50Yk9NV
Our sunflower lanyards and awareness cards are now back in stock!
Choose between 'Rare Chromosome Disorder' or 'Rare Gene Disorder' for just £8. Get them here: https://unique-chromo-shop.myshopify.com/collections/unique-accessories/products/awareness-card-and-sunflower-lanyard
1 in 4 people wait at least three years for a rare condition diagnosis.
Equity means different things to different people but we can all unite in calling for an end to the #DiagnosticOdyssey and demanding timely and equitable access to specialised care and innovative treatments.
💙 Parents and families of children or adults with genetic/rare genetic conditions, The MRC CoRE in Therapeutic Genomics is forming a Parent and Family Group to help shape how they support families and research.
Interested? 📧 email carol.porteous@paediatrics.ox.ac.uk
Our Unique Experiences report, launched on Rare Chromo Day, was a dive into our survey of families affected by rare chromosome and gene disorders. The findings reveal a complex picture of resilience, grief, stress, strength and struggle.
https://rarechromo.org/get-ready-for-rare-chromo-day-2025/
This #HelplineAwarenessDay we want to shine a light on our wonderful helpline team.
We're here for anyone affected by rare chromosome or gene disorders. We're here to chat, answer questions or be a listening ear.
Reach us on +44 (0) 1883 723356 or emailing help@rarechromo.org.
The moment we've been waiting to tell you! We are very proud to present to you our Little Red Book in PRINT and use it to help explain what life is like with a rare #chromosome or #gene disorder.
Buy now on our online shop: https://ow.ly/Rl3G50YhZGI
#RareDiseaseWeek #RareDiseaseDay
New guide and Gene Story picture booklet available on KMT2E-related neurodevelopmental disorder, designed to help and inform individuals, their families, and professionals involved in their care.
Guide: https://ow.ly/lR9H50YbGH2
Gene story: https://ow.ly/G11f50YbGH3
There's only one week to go until #RareDiseaseDay. Did you know that only 1 in 20 rare conditions have an approved treatment or medicine? With there being over 7,000 identified rare conditions, that leaves thousands of conditions with no available treatments.
#Rarequity
A book with al proceeds going to Unique. What will Jack fit in his van? Jack and His Magic Van is about a young boy who encounters different scenarios on his day out and written by Craig, a dad inspired by his son's love of adventures and his dad’s van!
https://ow.ly/KlqG50YbAOE
South East Genomics Medicine service have a line up of events across #RareDiseaseWeek. Open to all, take a look and register for any event that interest you.
Find links and more information on their events page: https://southeastgenomics.nhs.uk/news-and-events/events/
If you would like to be a community contact for your area, please get in touch for more information - emma@rarechromo.org
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The project will be funded by the national lottery to reinvigorate our local contacts programme across England. However, the project will be a stepping stone to roll out the project to members across the world.
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The funding will allow us to recruit for a Community Contacts Coordinator to help oversee the project. Keep your eyes open for our advertisement going out in the next few week!
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The project will help us support and empower volunteers and members to co-design a real-world and virtual network of families, to help members overcome isolation, share their lived experiences and use their collective knowledge to help each other overcome barriers and inequalities they face.
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Another exciting update!
We have received confirmation that our Community Contacts Project will be funded for the next three years!
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A huge thank you to Eric who walked 31,000 steps from Supernova Stay and Play to the #BrianClough Stand in #Nottingham on a rather drizzly day and raising over £1,500 for Unique. On his birthday too!
THANK YOU ERIC!
#fundraiser #Unique
This #ValentinesDay, we want to send love to all 300 million people living around the world with a rare condition!
With two weeks to go until #RareDiseaseDay we want to raise awareness of the importance of high quality care, information and support for our global community.
Between 2024-2025 the Unique team were involved in 13 academic papers, covering topics like benefits, harms and costs of genomic newborn screening, promoting timely and equitable access to rare disease genomic testing and more! We're always looking for ways to raise awareness!
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