Unique
@uniquecharity.bsky.social
Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
Today is #TBCK Awareness Day!🧬
The name TBCK syndrome derives from the gene which, when altered, can cause this condition. The TBCK gene name is an abbreviation of ‘TBC1 Domain Containing Kinase’.
Read our quick read guide on TBCK syndrome head to: bit.ly/TBCK
The name TBCK syndrome derives from the gene which, when altered, can cause this condition. The TBCK gene name is an abbreviation of ‘TBC1 Domain Containing Kinase’.
Read our quick read guide on TBCK syndrome head to: bit.ly/TBCK
February 1, 2026 at 9:10 AM
Today is #TBCK Awareness Day!🧬
The name TBCK syndrome derives from the gene which, when altered, can cause this condition. The TBCK gene name is an abbreviation of ‘TBC1 Domain Containing Kinase’.
Read our quick read guide on TBCK syndrome head to: bit.ly/TBCK
The name TBCK syndrome derives from the gene which, when altered, can cause this condition. The TBCK gene name is an abbreviation of ‘TBC1 Domain Containing Kinase’.
Read our quick read guide on TBCK syndrome head to: bit.ly/TBCK
Our upcoming webinar, Feeding and Eating Difficulties in Children with Rare Genetic Conditions: Insights from the IMAGINE-ID Study is coming up on 11th February 2026.
If you're a member of Unique and want to join us, please get in touch via [email protected].
If you're a member of Unique and want to join us, please get in touch via [email protected].
January 31, 2026 at 10:00 AM
Our upcoming webinar, Feeding and Eating Difficulties in Children with Rare Genetic Conditions: Insights from the IMAGINE-ID Study is coming up on 11th February 2026.
If you're a member of Unique and want to join us, please get in touch via [email protected].
If you're a member of Unique and want to join us, please get in touch via [email protected].
Northern Ireland, we've received the news that we have funding from @TNLComFundNI to host an event in Northern Ireland. We can't wait to meet you, and offer support and information for our community. Keep your eyes out for more info as we start planning the event!
See you soon!
See you soon!
January 30, 2026 at 11:00 AM
Northern Ireland, we've received the news that we have funding from @TNLComFundNI to host an event in Northern Ireland. We can't wait to meet you, and offer support and information for our community. Keep your eyes out for more info as we start planning the event!
See you soon!
See you soon!
Reposted by Unique
Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social
January 28, 2026 at 1:59 PM
Some important new DECIPHER features released by @deciphergenomics.bsky.social today, including a new management/therapies tab, and links to single gene disorder guides from @uniquecharity.bsky.social
We're excited to have our guides feature on @deciphergenomics.bsky.social's website. We hope this helps more families access information about their diagnoses.
We love collaborations like this, thank you DECIPHER!
We love collaborations like this, thank you DECIPHER!
Links to @uniquecharity.bsky.social single gene disorder guides are now displayed in DECIPHER on gene pages, therapies tabs and patient records #inclusion #informationforeveryone
January 28, 2026 at 3:26 PM
We're excited to have our guides feature on @deciphergenomics.bsky.social's website. We hope this helps more families access information about their diagnoses.
We love collaborations like this, thank you DECIPHER!
We love collaborations like this, thank you DECIPHER!
Reposted by Unique
Genetic Alliance UK is exploring what equity means for people living with rare conditions as part of their #RareDiseaseDay 2026 campaign.
💭 To show the stories behind the statistics, they want to hear your experiences. Click to take part ⤵️
https://loom.ly/yKiNx2Q
💭 To show the stories behind the statistics, they want to hear your experiences. Click to take part ⤵️
https://loom.ly/yKiNx2Q
Genetic Alliance UK | Rare Disease Day 2026 survey
Please take a few minutes to take our survey.
www.smartsurvey.co.uk
December 5, 2025 at 9:01 AM
Genetic Alliance UK is exploring what equity means for people living with rare conditions as part of their #RareDiseaseDay 2026 campaign.
💭 To show the stories behind the statistics, they want to hear your experiences. Click to take part ⤵️
https://loom.ly/yKiNx2Q
💭 To show the stories behind the statistics, they want to hear your experiences. Click to take part ⤵️
https://loom.ly/yKiNx2Q
Today is the International Day of Persons with Disabilities, and the theme is Health financing matters.
There are 1.3 billion persons with disabilities in world, which means that achieving health for all must fundamentally address the needs of persons with disabilities.
1/7
There are 1.3 billion persons with disabilities in world, which means that achieving health for all must fundamentally address the needs of persons with disabilities.
1/7
December 3, 2025 at 4:11 PM
Today is the International Day of Persons with Disabilities, and the theme is Health financing matters.
There are 1.3 billion persons with disabilities in world, which means that achieving health for all must fundamentally address the needs of persons with disabilities.
1/7
There are 1.3 billion persons with disabilities in world, which means that achieving health for all must fundamentally address the needs of persons with disabilities.
1/7
Reposted by Unique
Charlotte Wilmshurst #BSGM2025 Inconsistency in naming of genetic conditions causes challenges for those affected, including barriers to support. @uniquecharity.bsky.social highlighted that many families prefer the use of eponymous names. guidelines for naming practices in progress.
November 5, 2025 at 3:38 PM
Charlotte Wilmshurst #BSGM2025 Inconsistency in naming of genetic conditions causes challenges for those affected, including barriers to support. @uniquecharity.bsky.social highlighted that many families prefer the use of eponymous names. guidelines for naming practices in progress.
HAPPY BIRTHDAY SARAH 🎂🥳🎈
It's Unique's wonderful CEO, Sarah Wynn's birthday today and we need your help! Join us in embarrassing (and celebrating) her by sharing your birthday messages in the comments.
1/3
It's Unique's wonderful CEO, Sarah Wynn's birthday today and we need your help! Join us in embarrassing (and celebrating) her by sharing your birthday messages in the comments.
1/3
December 1, 2025 at 1:55 PM
HAPPY BIRTHDAY SARAH 🎂🥳🎈
It's Unique's wonderful CEO, Sarah Wynn's birthday today and we need your help! Join us in embarrassing (and celebrating) her by sharing your birthday messages in the comments.
1/3
It's Unique's wonderful CEO, Sarah Wynn's birthday today and we need your help! Join us in embarrassing (and celebrating) her by sharing your birthday messages in the comments.
1/3
What is the biggest personal challenge for you due to having, or caring for someone, with a rare #chromosome or #gene disorder?
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
October 3, 2025 at 2:31 PM
What is the biggest personal challenge for you due to having, or caring for someone, with a rare #chromosome or #gene disorder?
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
Don't forget you can now get our 2025 Christmas cards! We have 5 new designs and some of old stock available too. 🎄
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
October 2, 2025 at 4:30 PM
Don't forget you can now get our 2025 Christmas cards! We have 5 new designs and some of old stock available too. 🎄
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
The awareness days keep on coming, with today being #CACNA1C Awareness Day.
Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.
#RareDisease @cacna1c.bsky.social
Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.
#RareDisease @cacna1c.bsky.social
October 1, 2025 at 2:11 PM
The awareness days keep on coming, with today being #CACNA1C Awareness Day.
Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.
#RareDisease @cacna1c.bsky.social
Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.
#RareDisease @cacna1c.bsky.social
Unfortunately, we are currently unable to ship our merchandise to the United States due to the new tariffs. If you have bought something since the start of the tariffs we will be in touch to refund any purchases - and we'll keep everyone updated if the situation changes.
August 27, 2025 at 10:21 AM
Unfortunately, we are currently unable to ship our merchandise to the United States due to the new tariffs. If you have bought something since the start of the tariffs we will be in touch to refund any purchases - and we'll keep everyone updated if the situation changes.
Everyone processes receiving a diagnosis differently. This recent performance captures the impact it can have on relationships and wider family by following a conversation around a couple’s experience of a de novo (new) genetic diagnosis in their child
⏯️www.youtube.com/watc...
⏯️www.youtube.com/watc...
August 26, 2025 at 11:17 AM
Everyone processes receiving a diagnosis differently. This recent performance captures the impact it can have on relationships and wider family by following a conversation around a couple’s experience of a de novo (new) genetic diagnosis in their child
⏯️www.youtube.com/watc...
⏯️www.youtube.com/watc...
Our community never fails to inspire us.
Cailin is a talented jewelry maker, and has bee selling her stunning creations to raise money for Unique. Isn't she talented?!
Thank you Cailin for your continued support, it really means so much to us.
Cailin is a talented jewelry maker, and has bee selling her stunning creations to raise money for Unique. Isn't she talented?!
Thank you Cailin for your continued support, it really means so much to us.
August 22, 2025 at 11:25 AM
Our community never fails to inspire us.
Cailin is a talented jewelry maker, and has bee selling her stunning creations to raise money for Unique. Isn't she talented?!
Thank you Cailin for your continued support, it really means so much to us.
Cailin is a talented jewelry maker, and has bee selling her stunning creations to raise money for Unique. Isn't she talented?!
Thank you Cailin for your continued support, it really means so much to us.
*Warning, post mentions Christmas - scroll on if you're not ready just yet 🎄
We are excited to have received our 2025 Christmas card delivery and they're now available our shop.
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
We are excited to have received our 2025 Christmas card delivery and they're now available our shop.
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
August 18, 2025 at 8:09 AM
*Warning, post mentions Christmas - scroll on if you're not ready just yet 🎄
We are excited to have received our 2025 Christmas card delivery and they're now available our shop.
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
We are excited to have received our 2025 Christmas card delivery and they're now available our shop.
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
The amazing Cailin has been fundraising for Unique by making and selling stunning jewelry and crafts.
Thank you Cailin, you are incredibly talented!
Thank you Cailin, you are incredibly talented!
August 13, 2025 at 10:30 AM
The amazing Cailin has been fundraising for Unique by making and selling stunning jewelry and crafts.
Thank you Cailin, you are incredibly talented!
Thank you Cailin, you are incredibly talented!
Reposted by Unique
Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.
Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...
www.ft.com/content/25dd...
Curiosity underlies a breakthrough in rare disease
We must recognise and protect the pipelines that lead from research to real-world benefit
www.ft.com
May 29, 2025 at 9:54 AM
Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.
Researchers want to design a novel self-report sleep questionnaire and sleep diary for adolescents (aged 12-18 years) with mild-moderate intellectual disabilities. Can you help by sharing more on your child's attitude towards sleep measures: astonpsychology.eu.q...
August 5, 2025 at 5:04 PM
Researchers want to design a novel self-report sleep questionnaire and sleep diary for adolescents (aged 12-18 years) with mild-moderate intellectual disabilities. Can you help by sharing more on your child's attitude towards sleep measures: astonpsychology.eu.q...
We are super excited to introduce a few new members to the Unique team!
Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.
Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.
July 29, 2025 at 6:20 PM
We are super excited to introduce a few new members to the Unique team!
Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.
Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.
We love sharing story's from our community around the world - it helps us all feel connected. Today we share Kai's story, told by Madison. If you relate please drop a comment below.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
July 24, 2025 at 3:46 PM
We love sharing story's from our community around the world - it helps us all feel connected. Today we share Kai's story, told by Madison. If you relate please drop a comment below.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
Today is Pallister-Killian Syndrome (PKS) Awareness Day!
Let’s work together to raise awareness and celebrate the diversity that makes our community so special.
Download our guide to PKS here: bit.ly/P-Ksyndrome
#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS
Let’s work together to raise awareness and celebrate the diversity that makes our community so special.
Download our guide to PKS here: bit.ly/P-Ksyndrome
#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS
June 28, 2025 at 7:00 AM
Today is Pallister-Killian Syndrome (PKS) Awareness Day!
Let’s work together to raise awareness and celebrate the diversity that makes our community so special.
Download our guide to PKS here: bit.ly/P-Ksyndrome
#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS
Let’s work together to raise awareness and celebrate the diversity that makes our community so special.
Download our guide to PKS here: bit.ly/P-Ksyndrome
#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS
Today is DDX3X Awareness Day!
12th June marks the fifth annual International DDX3X Day!
Share our expert-written guide, freely available online at bit.ly/3VlQ0D5
#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport
12th June marks the fifth annual International DDX3X Day!
Share our expert-written guide, freely available online at bit.ly/3VlQ0D5
#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport
June 12, 2025 at 11:22 AM
Today is DDX3X Awareness Day!
12th June marks the fifth annual International DDX3X Day!
Share our expert-written guide, freely available online at bit.ly/3VlQ0D5
#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport
12th June marks the fifth annual International DDX3X Day!
Share our expert-written guide, freely available online at bit.ly/3VlQ0D5
#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport
Today is International Chromosome 6 Awareness Day! 🧬
Unique offers expert written guides to over a dozen disorders related to chromosome 6. Freely available on our website at bit.ly/alluniqueguides
#Chromosome6 #Chromosome6awareness #June6 #RareChromo
Unique offers expert written guides to over a dozen disorders related to chromosome 6. Freely available on our website at bit.ly/alluniqueguides
#Chromosome6 #Chromosome6awareness #June6 #RareChromo
June 6, 2025 at 7:00 AM
Today is International Chromosome 6 Awareness Day! 🧬
Unique offers expert written guides to over a dozen disorders related to chromosome 6. Freely available on our website at bit.ly/alluniqueguides
#Chromosome6 #Chromosome6awareness #June6 #RareChromo
Unique offers expert written guides to over a dozen disorders related to chromosome 6. Freely available on our website at bit.ly/alluniqueguides
#Chromosome6 #Chromosome6awareness #June6 #RareChromo
You may have noticed our new logo!
It is now available on our shop to download and use in your awareness campaigns in the run up to #RareChromoDay 2025. Please purchase the logo via our shop at: bit.ly/UniqueLogoOffer
#Unique #RareChromo #RareGene #RareChromoDay #Charity
It is now available on our shop to download and use in your awareness campaigns in the run up to #RareChromoDay 2025. Please purchase the logo via our shop at: bit.ly/UniqueLogoOffer
#Unique #RareChromo #RareGene #RareChromoDay #Charity
June 4, 2025 at 6:00 AM
You may have noticed our new logo!
It is now available on our shop to download and use in your awareness campaigns in the run up to #RareChromoDay 2025. Please purchase the logo via our shop at: bit.ly/UniqueLogoOffer
#Unique #RareChromo #RareGene #RareChromoDay #Charity
It is now available on our shop to download and use in your awareness campaigns in the run up to #RareChromoDay 2025. Please purchase the logo via our shop at: bit.ly/UniqueLogoOffer
#Unique #RareChromo #RareGene #RareChromoDay #Charity