@nfbot.bsky.social#JAACAP #metaanalysis finds children with #neurofibromatosis type 1 have more severe #ADHD symptoms than the general population. #FSUCOM #raredisease #EndNF https://twp.ai/4iwvk8
@eara.euDiagnosis 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
@zebrabande.bsky.socialEinfach ein wenig besser in der "vogel-Strauß Taktik" wäre...
Ich weiß rational,
Dass es gut ist, dass dem nicht so ist...
Aber...
#EhlersDanlosSyndrom #hEDS #SelteneErkrankung #rareDisease #dis #dissoziativeIdentitätsstörung #Kptbs #trauma #punktehund
@sinaigenhealth.bsky.social🔗 Learn more about SSIEM 2026:
www.ssiem2026.org
🏛️ Society for the Study of Inborn Errors of Metabolism (SSIEM):
www.ssiem.org
#SSIEM2026 #RareDisease #Genomics #MachineLearning #NaturalLanguageProcessing #GenomicMedicine
@erneurogen.bsky.social🇺🇦 Paediatric Urology Webinar Series for Ukraine: Anorectal Malformations (Part 1)
🗓 8 October ⏰ 18:00 CEST / 19:00 EEST
🎙 Prof. Dr. Martin Lacher
🔗 Register: tinyurl.com/eurogen08oct26
@erneurogen.bsky.social🇺🇦 Серія вебінарів з дитячої урології для України: Аноректальні вади розвитку (Частина 1)
🗓 8 жовтня 🕕 18:00 CEST / 19:00 EEST
🎙 Проф. д-р Мартін Лахер
🔗 Реєстрація tinyurl.com/eurogen08oct26
@franmartinezgr.bsky.socialHypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I #RareDisease #Genetics #newphenotype #morbidgene www.cell.com/ajhg/fulltex...
@jaacapjournals.bsky.social#JAACAP #metaanalysis finds children with #neurofibromatosis type 1 have more severe #ADHD symptoms than the general population. #FSUCOM #raredisease #EndNF
https://twp.ai/4iwvk8
@mgnews.bsky.socialGet the scoop: https://bit.ly/4dkRDuC
In the midst of a myasthenia gravis crisis, columnist Shawna Barnes gave her husband a 'here we go again' look while packing a hospital bag.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@mgnews.bsky.socialGet the scoop: https://bit.ly/4jFSfP8
A second round of treatment with CAR T-cell therapy Descartes-08 may ease symptoms for some people with gMG.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@lumanity.bsky.socialFour advocates. Four conditions. Four communities transformed by the courage to speak up, push back, and drive change. Watch the full Voices of Rare Disease series: lumanity.com/perspectives...
@rarectadvocate.comCarnitine Palmitoyltransferase II (CPT II) Deficiency is a disorder that stops the body from burning long-chain fats for energy, causing muscle breakdown during exercise or illness.
Learn more: https://www.fodsupport.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netMesomelic dysplasia, Kantaputra type: Imaging findings https://gamuts.net/x/28318 #radiology #RareDisease #FOAMed
@primrlab.bsky.social(2) EN: While there's currently no cure, daily airway clearance and antibiotics can help manage the condition. Raising awareness helps fund research and support people living with PCD.
@nfbot.bsky.socialNew pediatric #NF1 study (n=301): 60.8% truncating variants, 37 novel mutations identified & sex-specific growth curves established to track growth impairment! link.springer.com/article/10.1... #Pediatrics #Genomics #RareDisease
@espku.org📣This is #tracesofpku👣 Encore.
🧠 Late-diagnosed #PKU can affect an entire family’s mental health. Parents, siblings and carers may carry worry, exhaustion and helplessness. Their wellbeing deserves support, too.
#mentalhealth #mentalhealthday #pkumentalhealth #raredisease
@gene2phenotype.bsky.socialWe are excited to be presenting G2P at #RAREsummit26!
Interested in knowing more about G2P work curating genomic disease-gene relationships to accelerate diagnostics, research and development of targeted therapeutics.? Come to our poster and say Hi 👋
#RareDisease #RareConditions
@world-j-pediatr.bsky.socialNew pediatric #NF1 study (n=301): 60.8% truncating variants, 37 novel mutations identified & sex-specific growth curves established to track growth impairment!
@artificialscience.bsky.socialAI now ranks rare-disease diagnoses better than experienced physicians in one Nature study. So why aren't doctors all using it? The evidence, the catches and the open questions. Read more:
@mgnews.bsky.socialPeople and practices can help us bounce back from setbacks. Who or what helps you regain strength? #RareDisease