Welcome to our new @bsky.app page!
We are a network uniting #rare #disease experts from @newcastleuni.bsky.social and #Newcastle NHS Trust to advance research, care, policy and more... ‘from Newcastle, for the world’. 🧬🖤🤍
Follow us for #RareDisease news, events & more!
#1in17 #LightUpForRare
We are a network uniting #rare #disease experts from @newcastleuni.bsky.social and #Newcastle NHS Trust to advance research, care, policy and more... ‘from Newcastle, for the world’. 🧬🖤🤍
Follow us for #RareDisease news, events & more!
#1in17 #LightUpForRare
November 6, 2026 at 2:28 PM
Welcome to our new @bsky.app page!
We are a network uniting #rare #disease experts from @newcastleuni.bsky.social and #Newcastle NHS Trust to advance research, care, policy and more... ‘from Newcastle, for the world’. 🧬🖤🤍
Follow us for #RareDisease news, events & more!
#1in17 #LightUpForRare
We are a network uniting #rare #disease experts from @newcastleuni.bsky.social and #Newcastle NHS Trust to advance research, care, policy and more... ‘from Newcastle, for the world’. 🧬🖤🤍
Follow us for #RareDisease news, events & more!
#1in17 #LightUpForRare
#RareDisease: Spasticity - intellectual deficit - X-linked epilepsy https://gamuts.net/x/34696 #radiology #FOAMed #FOAMrad
November 7, 2026 at 2:01 PM
#RareDisease: Spasticity - intellectual deficit - X-linked epilepsy https://gamuts.net/x/34696 #radiology #FOAMed #FOAMrad
November 6, 2026 at 9:31 PM
📢 CHU Sainte-Justine is hiring for two pediatric #neuromuscular & #raredisease clinical trial coordination positions!
🔹 Clinical Research Coordinator, Level buff.ly/CY0NNeP
🔹 Clinical Research Coordinator Nurse buff.ly/KltOXoI
#ClinicalResearch #ClinicalTrials #ResearchCareers #PediatricNeurology
🔹 Clinical Research Coordinator, Level buff.ly/CY0NNeP
🔹 Clinical Research Coordinator Nurse buff.ly/KltOXoI
#ClinicalResearch #ClinicalTrials #ResearchCareers #PediatricNeurology
November 6, 2026 at 9:35 PM
📢 CHU Sainte-Justine is hiring for two pediatric #neuromuscular & #raredisease clinical trial coordination positions!
🔹 Clinical Research Coordinator, Level buff.ly/CY0NNeP
🔹 Clinical Research Coordinator Nurse buff.ly/KltOXoI
#ClinicalResearch #ClinicalTrials #ResearchCareers #PediatricNeurology
🔹 Clinical Research Coordinator, Level buff.ly/CY0NNeP
🔹 Clinical Research Coordinator Nurse buff.ly/KltOXoI
#ClinicalResearch #ClinicalTrials #ResearchCareers #PediatricNeurology
“There is so much that you just don’t see. So much that we hide because we don’t want to scare you…because we don’t want to have to worry about you worrying about us.” https://invisibleillnessbattle.wordpress.com/2015/04/20/what-does-it-mean-to-live/ #chronicillness #raredisease #chronicpain
November 6, 2026 at 12:23 AM
“There is so much that you just don’t see. So much that we hide because we don’t want to scare you…because we don’t want to have to worry about you worrying about us.” https://invisibleillnessbattle.wordpress.com/2015/04/20/what-does-it-mean-to-live/ #chronicillness #raredisease #chronicpain
Your resilience shines brightest in moments others might overlook: keep shining. ✨ #RareDisease
November 7, 2026 at 12:15 AM
Your resilience shines brightest in moments others might overlook: keep shining. ✨ #RareDisease
“Most haven't heard of your condition and even if they have, they won’t fully understand it. It’s not their fault… However, many who have a #RareDisease agree, we would prefer a doctor to tell us directly if they don’t know how to help.” https://buff.ly/5HNBHYg #CRPS #NERVEmber
November 5, 2026 at 5:23 PM
“Most haven't heard of your condition and even if they have, they won’t fully understand it. It’s not their fault… However, many who have a #RareDisease agree, we would prefer a doctor to tell us directly if they don’t know how to help.” https://buff.ly/5HNBHYg #CRPS #NERVEmber
November 5, 2026 at 2:01 PM
📰 October 2026 Newsletter out now!
Rare PREPARE workshop, ETTN Work Meeting, webinars, registry numbers and more.
european-association-of-urology.email-provider.eu/web/mjla6ut7...
#RareDisease #EUfunded @erdera.bsky.social @ec.europa.eu @jardinjointaction.bsky.social
Rare PREPARE workshop, ETTN Work Meeting, webinars, registry numbers and more.
european-association-of-urology.email-provider.eu/web/mjla6ut7...
#RareDisease #EUfunded @erdera.bsky.social @ec.europa.eu @jardinjointaction.bsky.social
November 4, 2026 at 8:01 PM
📰 October 2026 Newsletter out now!
Rare PREPARE workshop, ETTN Work Meeting, webinars, registry numbers and more.
european-association-of-urology.email-provider.eu/web/mjla6ut7...
#RareDisease #EUfunded @erdera.bsky.social @ec.europa.eu @jardinjointaction.bsky.social
Rare PREPARE workshop, ETTN Work Meeting, webinars, registry numbers and more.
european-association-of-urology.email-provider.eu/web/mjla6ut7...
#RareDisease #EUfunded @erdera.bsky.social @ec.europa.eu @jardinjointaction.bsky.social
Find moments of peace amidst the chaos: they are essential. 🧘♀️ #RareDisease
November 5, 2026 at 12:15 AM
Find moments of peace amidst the chaos: they are essential. 🧘♀️ #RareDisease
'PIGQ-related severe early-onset epilepsy' added to DDG2P. Biallelic LoF variants in PIGQ cause a disorder characterised by nonprogressive congenital ataxia, intellectual disability, generalized epilepsy, and cerebellar atrophy. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
November 5, 2026 at 8:47 AM
'PIGQ-related severe early-onset epilepsy' added to DDG2P. Biallelic LoF variants in PIGQ cause a disorder characterised by nonprogressive congenital ataxia, intellectual disability, generalized epilepsy, and cerebellar atrophy. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
New: Tomkiewicz et al review nucleic acid therapeutics in rare diseases, including ASOs, siRNA, mRNA therapies and gene editing.
The paper examines therapeutic selection, delivery challenges and the development of programmable treatment platforms.
doi.org/10.1002/jimd...
#RareDisease #JIMD
The paper examines therapeutic selection, delivery challenges and the development of programmable treatment platforms.
doi.org/10.1002/jimd...
#RareDisease #JIMD
November 5, 2026 at 7:01 PM
New: Tomkiewicz et al review nucleic acid therapeutics in rare diseases, including ASOs, siRNA, mRNA therapies and gene editing.
The paper examines therapeutic selection, delivery challenges and the development of programmable treatment platforms.
doi.org/10.1002/jimd...
#RareDisease #JIMD
The paper examines therapeutic selection, delivery challenges and the development of programmable treatment platforms.
doi.org/10.1002/jimd...
#RareDisease #JIMD
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency: #Radiology findings https://gamuts.net/x/35292 #RareDisease #FOAMrad #Gamuts
November 6, 2026 at 2:01 PM
Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency: #Radiology findings https://gamuts.net/x/35292 #RareDisease #FOAMrad #Gamuts
"There is also an increased risk of #gastrointestinal #bleeding & peptic ulcers with #NSAIDs due to the mechanisms of the #medication ..which is also the biggest concern my #rheumatologist has with them": buff.ly/vUzgGH5
#AntiphospholipidSyndrome #RareDisease #MondayBlogs #MedSky #ChronicPain
#AntiphospholipidSyndrome #RareDisease #MondayBlogs #MedSky #ChronicPain
November 2, 2026 at 9:30 PM
"There is also an increased risk of #gastrointestinal #bleeding & peptic ulcers with #NSAIDs due to the mechanisms of the #medication ..which is also the biggest concern my #rheumatologist has with them": buff.ly/vUzgGH5
#AntiphospholipidSyndrome #RareDisease #MondayBlogs #MedSky #ChronicPain
#AntiphospholipidSyndrome #RareDisease #MondayBlogs #MedSky #ChronicPain
#RareDisease: Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence https://gamuts.net/x/34702 #radiology #FOAMed #FOAMrad
November 4, 2026 at 2:01 PM
#RareDisease: Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence https://gamuts.net/x/34702 #radiology #FOAMed #FOAMrad
MitImpact 4: a genome-wide resource for the interpretation of coding and non-coding mitochondrial DNA variants #RareDisease #Genetics academic.oup.com/nar/advance-...
November 5, 2026 at 6:08 AM
MitImpact 4: a genome-wide resource for the interpretation of coding and non-coding mitochondrial DNA variants #RareDisease #Genetics academic.oup.com/nar/advance-...
🗳️ Elections Matter!🌶
#Vote #NewMexico
🦓 For the #raredisease community, healthcare issues are personal.
Children waiting for a diagnosis, patients struggling to access specialists and caregivers navigating system that doesn't always understand their needs.
#RDAC #ziazebras
#Vote #NewMexico
🦓 For the #raredisease community, healthcare issues are personal.
Children waiting for a diagnosis, patients struggling to access specialists and caregivers navigating system that doesn't always understand their needs.
#RDAC #ziazebras
November 2, 2026 at 4:04 PM
🗳️ Elections Matter!🌶
#Vote #NewMexico
🦓 For the #raredisease community, healthcare issues are personal.
Children waiting for a diagnosis, patients struggling to access specialists and caregivers navigating system that doesn't always understand their needs.
#RDAC #ziazebras
#Vote #NewMexico
🦓 For the #raredisease community, healthcare issues are personal.
Children waiting for a diagnosis, patients struggling to access specialists and caregivers navigating system that doesn't always understand their needs.
#RDAC #ziazebras
🔎 Complex conditions need collaborative care.
Join ERN eUROGEN & ERN ERNICA for a webinar on surgical care for cloacal malformations, exploring MRI planning, multidisciplinary teamwork and two real-life case studies.
📅 4 Nov 18:00 CET
🔗 tinyurl.com/eurogen04nov26
#EUfunded #EU4Health #RareDisease
Join ERN eUROGEN & ERN ERNICA for a webinar on surgical care for cloacal malformations, exploring MRI planning, multidisciplinary teamwork and two real-life case studies.
📅 4 Nov 18:00 CET
🔗 tinyurl.com/eurogen04nov26
#EUfunded #EU4Health #RareDisease
November 4, 2026 at 9:14 AM
🔎 Complex conditions need collaborative care.
Join ERN eUROGEN & ERN ERNICA for a webinar on surgical care for cloacal malformations, exploring MRI planning, multidisciplinary teamwork and two real-life case studies.
📅 4 Nov 18:00 CET
🔗 tinyurl.com/eurogen04nov26
#EUfunded #EU4Health #RareDisease
Join ERN eUROGEN & ERN ERNICA for a webinar on surgical care for cloacal malformations, exploring MRI planning, multidisciplinary teamwork and two real-life case studies.
📅 4 Nov 18:00 CET
🔗 tinyurl.com/eurogen04nov26
#EUfunded #EU4Health #RareDisease
Your story is one of hope, courage, and perseverance: keep writing. 🖋 #RareDisease
November 3, 2026 at 12:15 AM
Your story is one of hope, courage, and perseverance: keep writing. 🖋 #RareDisease
November 2, 2026 at 6:33 PM
Intellectual deficit - obesity - brain malformations - facial dysmorphism: Imaging findings https://gamuts.net/x/35290 #radiology #RareDisease #FOAMed
November 3, 2026 at 2:01 PM
Intellectual deficit - obesity - brain malformations - facial dysmorphism: Imaging findings https://gamuts.net/x/35290 #radiology #RareDisease #FOAMed
Connecting research and clinical care: #UDN study highlights majority of new diagnoses required both clinical evaluation and use of research strategies beyond standard approaches. bit.ly/4zoQQ4x #RareDisease #UndiagnosedDiseaseNetwork
November 5, 2026 at 4:07 PM
Connecting research and clinical care: #UDN study highlights majority of new diagnoses required both clinical evaluation and use of research strategies beyond standard approaches. bit.ly/4zoQQ4x #RareDisease #UndiagnosedDiseaseNetwork
November 2, 2026 at 2:01 PM
What drives neuronal loss in C9orf72-related #ALS & #FTD?
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
November 2, 2026 at 6:37 PM
What drives neuronal loss in C9orf72-related #ALS & #FTD?
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
In this video abstract, Jaskaran Singh explains how PAICS contributes to DNA damage & cerebellar neuron loss, revealing a promising therapeutic target
▶️ Watch: buff.ly/EODhwd6
🔗 Read more: buff.ly/o5LB4Ta
#Neuroscience #RareDisease #SciComm
👉 What does #HorizonEurope 2026–2027 offer the #RareDisease research community? Explore new funding opportunities and what they could mean for the field🔗 https://loom.ly/R_3G8Kw
#RareDiseases #HorizonEurope #ResearchFunding #HealthResearch
#RareDiseases #HorizonEurope #ResearchFunding #HealthResearch
November 6, 2026 at 7:56 AM
👉 What does #HorizonEurope 2026–2027 offer the #RareDisease research community? Explore new funding opportunities and what they could mean for the field🔗 https://loom.ly/R_3G8Kw
#RareDiseases #HorizonEurope #ResearchFunding #HealthResearch
#RareDiseases #HorizonEurope #ResearchFunding #HealthResearch