October 24, 2026 at 1:01 PM
FOP turns muscle into bone, caused by a one-letter change in ACVR1 that lets activin A trigger bone growth. Blocking activin A cut new bone lesions from 19 to 1–2 in a phase 3 trial, now FDA-approved (2026). #FOP #raredisease
October 26, 2026 at 8:47 PM
FOP turns muscle into bone, caused by a one-letter change in ACVR1 that lets activin A trigger bone growth. Blocking activin A cut new bone lesions from 19 to 1–2 in a phase 3 trial, now FDA-approved (2026). #FOP #raredisease
Every morning is a new chance to rewrite your story: seize the day. ☀️ #RareDisease
October 23, 2026 at 11:15 PM
Every morning is a new chance to rewrite your story: seize the day. ☀️ #RareDisease
October 27, 2026 at 1:01 PM
October 25, 2026 at 1:01 PM
The hardest battles often lead to the most beautiful destinations. #RareDisease
October 25, 2026 at 11:15 PM
The hardest battles often lead to the most beautiful destinations. #RareDisease
Anophthalmia/microphthalmia - esophageal atresia: Imaging findings https://gamuts.net/x/34851 #radiology #RareDisease #FOAMed
October 26, 2026 at 1:01 PM
Anophthalmia/microphthalmia - esophageal atresia: Imaging findings https://gamuts.net/x/34851 #radiology #RareDisease #FOAMed
Friday's afternoon poster session (2:30 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
October 23, 2026 at 3:15 PM
Friday's afternoon poster session (2:30 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
October 23, 2026 at 5:21 PM
Bi-allelic UQCC1 variants impair mitochondrial complex III assembly causing early-onset mitochondrial disease #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
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
October 26, 2026 at 2:00 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
A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
October 25, 2026 at 11:47 AM
A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.6...
🔬 A routine blood film revealed Alder–Reilly anomaly in a 31-year-old woman.
Further testing suggested MPS VII, with just 2–3% residual β-glucuronidase activity, yet no overt clinical disease.
A fascinating diagnostic case in JIMD Reports.
doi.org/10.1002/jmd2...
#RareDisease #MPSVII
Further testing suggested MPS VII, with just 2–3% residual β-glucuronidase activity, yet no overt clinical disease.
A fascinating diagnostic case in JIMD Reports.
doi.org/10.1002/jmd2...
#RareDisease #MPSVII
October 24, 2026 at 6:23 AM
🔬 A routine blood film revealed Alder–Reilly anomaly in a 31-year-old woman.
Further testing suggested MPS VII, with just 2–3% residual β-glucuronidase activity, yet no overt clinical disease.
A fascinating diagnostic case in JIMD Reports.
doi.org/10.1002/jmd2...
#RareDisease #MPSVII
Further testing suggested MPS VII, with just 2–3% residual β-glucuronidase activity, yet no overt clinical disease.
A fascinating diagnostic case in JIMD Reports.
doi.org/10.1002/jmd2...
#RareDisease #MPSVII
Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN #RareDisease #Genetics www.sciencedirect.com/science/arti...
www.sciencedirect.com
October 22, 2026 at 2:52 PM
Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCN #RareDisease #Genetics www.sciencedirect.com/science/arti...
This Thursday's afternoon poster session (4:15 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
October 22, 2026 at 12:01 PM
This Thursday's afternoon poster session (4:15 pm) at 🧬 #ASHG26 will feature more GREGoR posters! 🪧 #RareDisease #Research #ASHG
October 23, 2026 at 1:01 PM
We're sharing today's full, hour-long #NORDSummit conversation with the CEOs of NORD, BioMarin, Jazz Pharmaceuticals, and Otsuka North America, moderated by #CNBCCures host Becky Quick, so everyone can hear their urgent insights about the next decade of #RareDisease: www.youtube.com/watch?v=UDf3...
The Next Decade of Rare Disease: A CEO Leadership Dialogue Moderated by Becky Quick
YouTube video by National Organization for Rare Disorders (NORD)
www.youtube.com
October 26, 2026 at 8:04 PM
We're sharing today's full, hour-long #NORDSummit conversation with the CEOs of NORD, BioMarin, Jazz Pharmaceuticals, and Otsuka North America, moderated by #CNBCCures host Becky Quick, so everyone can hear their urgent insights about the next decade of #RareDisease: www.youtube.com/watch?v=UDf3...
Proud moment last week at #ASHG2026: @danielcalame.bsky.social, MD, PhD presented new findings showing RNPS1 haploinsufficiency causes a syndromic neurodevelopmental disorder with skeletal anomalies. #Genomics #RareDisease #GREGoR
October 26, 2026 at 1:24 PM
Proud moment last week at #ASHG2026: @danielcalame.bsky.social, MD, PhD presented new findings showing RNPS1 haploinsufficiency causes a syndromic neurodevelopmental disorder with skeletal anomalies. #Genomics #RareDisease #GREGoR
Kiersten, who lives with Friedreich’s ataxia (FA), reminds us that living with a chronic illness comes with challenges others may not always see.
Join our newsletter: https://bit.ly/4yFRgmb
#Bionews #RareDiseaseCommunity #ChronicIllness #RareDisease #RareDiseaseSupport
Join our newsletter: https://bit.ly/4yFRgmb
#Bionews #RareDiseaseCommunity #ChronicIllness #RareDisease #RareDiseaseSupport
October 22, 2026 at 4:08 PM
Kiersten, who lives with Friedreich’s ataxia (FA), reminds us that living with a chronic illness comes with challenges others may not always see.
Join our newsletter: https://bit.ly/4yFRgmb
#Bionews #RareDiseaseCommunity #ChronicIllness #RareDisease #RareDiseaseSupport
Join our newsletter: https://bit.ly/4yFRgmb
#Bionews #RareDiseaseCommunity #ChronicIllness #RareDisease #RareDiseaseSupport
AI found the gene. Flies helped show that it mattered. 🧬🪰
Researchers identified rare BRSK1 variants in 10 patients with neurodevelopmental conditions.
In fruit flies, the normal human gene restored function better than patient-associated variants.
#RareDisease #Genetics #AnimalResearch
Researchers identified rare BRSK1 variants in 10 patients with neurodevelopmental conditions.
In fruit flies, the normal human gene restored function better than patient-associated variants.
#RareDisease #Genetics #AnimalResearch
Diagnosis of #patients with a #RareDisease using #flies and #AI
#AI flagged a rare BRSK1 #gene alteration missed by standard analysis. Studies in #FruitFlies showed the #gene is involved in communication between #neurones.
Learn more: 🔗 www.eara.eu/news/diagnos...
#BaylorCollegeOfMedicine
#AI flagged a rare BRSK1 #gene alteration missed by standard analysis. Studies in #FruitFlies showed the #gene is involved in communication between #neurones.
Learn more: 🔗 www.eara.eu/news/diagnos...
#BaylorCollegeOfMedicine
EARA | News - Diagnosis of patients with a rare disease using flies and AI
By combining studies in flies with artificial intelligence (AI), researchers in the US have identified alterations in a gene that may cause a rare neurodevelopmental condition in ten patients. …
www.eara.eu
October 23, 2026 at 7:34 AM
AI found the gene. Flies helped show that it mattered. 🧬🪰
Researchers identified rare BRSK1 variants in 10 patients with neurodevelopmental conditions.
In fruit flies, the normal human gene restored function better than patient-associated variants.
#RareDisease #Genetics #AnimalResearch
Researchers identified rare BRSK1 variants in 10 patients with neurodevelopmental conditions.
In fruit flies, the normal human gene restored function better than patient-associated variants.
#RareDisease #Genetics #AnimalResearch
Yes. One million times, yes. Way too relatable 🤣
#chronicillnessmemes linktr.ee/thezebraalliance #meme #memes #jokes #chronicillness #raredisease #invisibleillness #disability #EDS #Dysautonomia #chronicpain
#chronicillnessmemes linktr.ee/thezebraalliance #meme #memes #jokes #chronicillness #raredisease #invisibleillness #disability #EDS #Dysautonomia #chronicpain
![@uhsten - you ever just feel like this fucker [Michael "Goob" Yagoobian sick looking kid who becomes villain later from Meet the Robinsons]](https://cdn.bsky.app/img/feed_thumbnail/plain/did:plc:dbzmdmsaz6lkhb4tv3culzme/bafkreigwvsemfnjpbgbjtvwmhtp7pzjcvnpfvqblfqdsfzdlc6drokpwjq)
October 20, 2026 at 4:40 PM
Yes. One million times, yes. Way too relatable 🤣
#chronicillnessmemes linktr.ee/thezebraalliance #meme #memes #jokes #chronicillness #raredisease #invisibleillness #disability #EDS #Dysautonomia #chronicpain
#chronicillnessmemes linktr.ee/thezebraalliance #meme #memes #jokes #chronicillness #raredisease #invisibleillness #disability #EDS #Dysautonomia #chronicpain
For Dr. Ildikó Krencz, LAM research began in the lab and grew into a decade-long passion. Read her story: https://ow.ly/EGMI50ZYBxQ
#LAM #RareDisease #WomenInScience #LungHealth #MedicalResearch #LAMCommunity #ScienceForHope #ResearchMatters #WomenInMedicine #PatientAdvocacy
#LAM #RareDisease #WomenInScience #LungHealth #MedicalResearch #LAMCommunity #ScienceForHope #ResearchMatters #WomenInMedicine #PatientAdvocacy
October 23, 2026 at 3:00 PM
For Dr. Ildikó Krencz, LAM research began in the lab and grew into a decade-long passion. Read her story: https://ow.ly/EGMI50ZYBxQ
#LAM #RareDisease #WomenInScience #LungHealth #MedicalResearch #LAMCommunity #ScienceForHope #ResearchMatters #WomenInMedicine #PatientAdvocacy
#LAM #RareDisease #WomenInScience #LungHealth #MedicalResearch #LAMCommunity #ScienceForHope #ResearchMatters #WomenInMedicine #PatientAdvocacy
Heading to the poster session Wednesday afternoon (2:30 pm) at 🧬 #ASHG26?
Check out the following GREGoR posters! 🪧 #RareDisease #Research #ASHG
Check out the following GREGoR posters! 🪧 #RareDisease #Research #ASHG
October 21, 2026 at 2:39 PM
Heading to the poster session Wednesday afternoon (2:30 pm) at 🧬 #ASHG26?
Check out the following GREGoR posters! 🪧 #RareDisease #Research #ASHG
Check out the following GREGoR posters! 🪧 #RareDisease #Research #ASHG
(3) EN: Therapeutically, management remains supportive, with no approved disease-modifying drugs, though genetic therapies are in early development. 👨🏻🔬🧬🔬🫁
#PrimaryCiliaryDyskinesia #RareDisease #PCD
#PrimaryCiliaryDyskinesia #RareDisease #PCD
October 22, 2026 at 11:36 AM
(3) EN: Therapeutically, management remains supportive, with no approved disease-modifying drugs, though genetic therapies are in early development. 👨🏻🔬🧬🔬🫁
#PrimaryCiliaryDyskinesia #RareDisease #PCD
#PrimaryCiliaryDyskinesia #RareDisease #PCD