How can the UK better support innovation in #RareConditions research? A new report from @geneticallianceuk.bsky.social and the @lifearc.bsky.social Translational Centres Hub explores novel trial designs, AI and multimodal data – and calls for renewal of the UK Rare Diseases Framework. bit.ly/40xbH6b

Puzzle pieces in various colours form a ribbon shape. Text reads "Rare Disease Day" in red and "28th February" in grey above, with "believe there is hope for healing" in grey below. The background is white.

🌟 28th Feb is #RareDiseaseDay! 3.5M in the UK live with rare conditions—1 in 17 affected. Let’s shine a light on the 300M worldwide. Share your story, fundraise, or take action to create change. 💜

See more here: adoddle.org/events-calen...

#RareDiseaseDay #RareConditions #GeneticConditions

Promotional graphic for a January 24 episode of the Disability Daily Podcast highlighting Moebius Syndrome Awareness Day. The poster includes the podcast logo, a white background with purple heart shapes, and a purple circle containing white text that reads “Look Beyond Face Value” and “Moebius Syndrome Awareness Day.”

Today on the #Disability Daily #Podcast we recognize Möbius Syndrome Awareness Day.

Listen & read transcript: tinyurl.com/DisabilityDaily
Please subscribe on Spotify, Apple & Amazon!

#MoebiusSyndrome #RareConditions #neurology #accessibility #health #FacialParalysis #FacialDifference #awareness

Pain you can’t see is still real.

On #PagetsAwarenessDay, let’s support staff with invisible conditions through flexibility, rest breaks, and open conversations. Inclusion starts with understanding.

#PagetsAwarenessDay #RareConditions #WorkplaceInclusion #PurpleTuesday

The importance of a multidisciplinary approach in solving #undiagnosed #rareconditions: 2025 UDNI Hackathon, supported by @wilhelmfoundation.bsky.social
@kingscollegelondon.bsky.social represented by @ykainov.bsky.social, contributing his expertise in RNA biology and non-coding variation.
#UDNI

Diagnostic dilemma: Rare condition made a woman see people as dragons A woman sought treatment for hallucinations she'd been experiencing since childhood, in which people's faces would morph into having dragon-like features.

Diagnostic dilemma: Rare condition made a woman see people as dragons #Science #HealthandMedicine #MentalHealth #RareConditions #Neurology

We R Rare - Manchester Rare Conditions Centre

Share Your Story. Advance Research. If you or a family member has experience with a rare condition, your insights can drive vital research and improve care and outcomes for future patients. Join the We R Rare Patient, Family & Carer Steering Group! shorturl.at/z9mV9 #RareConditions #PatientVoice

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

I learned so much from this work and I hope that and discoveries like this can make a real difference to the lives of people living with #RareConditions. Please do share! 😊
www.medrxiv.org/content/10.1...

Our new paper on “Anxiety and quality-of-life for parents of children with undiagnosed rare conditions: A multi-site quantitative survey study”. UCL Institute of Child Health

‪@uclchildhealth.bsky.social

#ChildHealth #RareConditions
#GMS
#NHS

onlinelibrary.wiley.com/doi/10.1002/...

These aren't easy to stories to read and we know they're even harder to share and relive. However, these posts do get attention and the more people learn, the better care, treatment, support will become in the UK, so thank you 🩷

#GuillainBarreSyndrome #GBS #RareConditions

His Body Froze Like a Statue — This Is Catatonia

Subscribe to read more on www.pouringpotions.com

#Catatonia #MentalHealthAwareness #WaxyFlexibility #PsychiatryFacts #NeurologyReel #FrozenButAwake #MentalHealthMatters #BrainDisorders #MedicalReels #RareConditions

🧬 She Was Born Without a Uterus — Here’s the Medical Truth

Subscribe to read more on www.pouringpotions.com

#MRKHSyndrome #BornWithoutUterus #ReproductiveHealthAwareness #MedicalEducation #RareConditions #DoctorExplains #PrimaryAmenorrhea #IVFJourney #GynaeAwareness

As it turns out, it was all in my head.

I have an #ArachnoidCyst in my brain. They are “typically benign” & found incidentally in brain scans.

Mine is hefty enough to press downward on my cerebellum, pushing part of my brain into my brain stem, #Chiari Malformation.

You, too? #RareConditions

🍽 He kept eating soap, coins, and dirt. Everyone thought it was a joke… until doctors diagnosed him with Pica.

Subscribe to read more on www.pouringpotions.com

#PicaDisorder #MedicalMystery #RareConditions #EatingDisorderAwareness #PsychiatricDisorders #HealthReels

LifeArc and Genetic Alliance UK launch a new report calling for the acceleration of research and development (R&D) for rare diseases   - LifeArc LifeArc and Genetic Alliance UK have launched a report calling for the UK Government, NHS, researchers, industry, patient groups and policymakers to work together to transform the lives of more than 3...

LifeArc recommendations to accelerate #RareDisease research. Strategic long-term investment required with commitment across the devolved UK nations for action and funding to ensure deliverables are met. #RareDiseaseNI #RareConditions #ChangeTheRareFuture #Research. www.lifearc.org/2025/lifearc...

Her body automatically synthesizes alcohol.

Subscribe to read more on www.pouringpotions.com

#AutoBrewerySyndrome #GutHealthMatters #MedicalMystery #WeirdDiseases #HealthEducation #RareConditions #InternalFermentation #BodyMakesAlcohol #MicrobiomeMatters #RealMedicalCase

Moebius syndrome: The rare condition that makes people unable to smile Moebius syndrome is a rare condition that affects several cranial nerves, impairing the muscles that control facial expressions and eye movements.

Moebius syndrome: The rare condition that makes people unable to smile #Science #HealthandMedicine #Neurology #MoebiusSyndrome #RareConditions

Finally called to schedule my MRI. So nervous about it after fighting for answers for the last 4 1/2 years.

They need to figure out what type of MRI to schedule me for.

Waiting game. #Intersex #RareConditions

One smile launched a mission and now we are so close to realizing it! #support #Veterans #FirstResponders #militaryfamilies #rareconditions #LevelUp25

Today’s mind-blowing fact: Akinetopsia, aka motion blindness, makes moving objects appear like snapshots instead of smooth motion. Rare, real, and totally fascinating.
#VisionFact #RareConditions #NeuroScience #DidYouKnow #Awareness

LinkedIn This link will take you to a page that’s not on LinkedIn

In collaboration with The Whitworth Group & MRCC, comedians Jamie MacDonald, Jibrell Arshad, & Yvonne Hughes share their rare condition experiences through comedy in their podcast! Check it out lnkd.in/eKWJiFmM

#RareComedy #RareConditions
#RareDiseaseDay2025

Speaker announcement! 🙌 Our ambassador Daval will be speaking at our #RareDisease 101 webinar on 25th February!
Daval will be talking about his experiences of EB and what patient advocacy groups like @charitydebra.bsky.social bring to people with #rareconditions.

www.m4rd.org/event/rare-d...

Baby with Extra Fingers or Toes? Understanding Polydactyly: Causes, Symptoms & Surgery.
#Polydactyly #GeneticDisorders #ExtraFingers #MedicalAwareness #HealthEducation #Surgery #XRay #ChildHealth #RareConditions #ParentingTips #Parenting101 #BabyCare #BabyCareTips #NewbornHealth #DrSilvaKidsGrow

Listen to our Podcast - North East and Yorkshire Genomic Medicine Service 'The Road to Genome' is a new podcast series from North East and Yorkshire Genomic Medicine Service GMS about genomic medicine

👋Hi Bluesky! Follow us if you're interested in:

#Genomics #Genetics #GeneticTesting #Cancer
#RareDisease #RareConditions #NHS #Nursing #Midwifery
#PrimaryCare #Pharmacogenomics #PatientVoice #PersonalisedMedicine #Paediatrics #DNA

Road to Genome Podcast: ney-genomics.org.uk/about-genomi...

In my quest to spread awareness of #rareconditions 🧬 as far and wide as possible, I visited @10dowingstreet.bsky.social yesterday. While I didn’t get to meet the Prime Minister, I did get to spend time with Larry @number10cat.bsky.social!

a cartoon duck says well hello there in front of a building ALT: a cartoon duck says well hello there in front of a building

👋Hi Bluesky! Follow us if you're interested in:

#genomics #genetics #GeneticTesting #Cancer #RareDisease #RareConditions #NHS #Nursing #Midwifery #PrimaryCare #Pharmacogenomics #PatientVoice #EarlyDiagnosis #PersonalisedMedicine #Paediatrics #healthcare #DNA #research

💻 www.eastgenomics.nhs.uk