Multiple congenital anomalies - hypotonia - seizures syndrome: Imaging findings https://gamuts.net/x/35234 #radiology #RareDisease #FOAMed
@gamuts.net
@gamuts.netMultiple congenital anomalies - hypotonia - seizures syndrome: Imaging findings https://gamuts.net/x/35234 #radiology #RareDisease #FOAMed
@ancan501c3.bsky.socialMEN SPEAKING FREELY: Open to ALL conditions. We don’t discuss medicine, treatments, etc – instead, all the other things you have to deal with living with your situation.
1st & 3rd Thursdays 8pm ET
https://www.gotomeet.me/AnswerCancer
@gene2phenotype.bsky.social'MRPL39-related paediatric-onset mitochondrial disorder' added to DDG2P. Biallelic LoF variants in MRPL39 cause a disorder characterised by developmental delay, hypotonia, hypertrophic cardiomyopathy, feeding difficulty and faltering growth. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
@jardinjointaction.bsky.social📚 Two new #JARDIN WP6 articles are out!
🔹 Rare disease care pathways & ERN integration across Europe (European Journal of Medical Genetics)
🔹 Crisis readiness for rare disease populations (The Lancet Regional Health – Europe)
📖 Read both here: jardin-ern.eu/new/new-wp6-...
@jimd-editors.bsky.socialThe phenotype fits. The biomarkers fit.
But NPC1 & NPC2 testing is negative.
In our latest Metabolic Mystery, Dr Ayca Burcu Kahraman follows the clues beyond conventional DNA testing.
Can you solve it?
@angioedemanews.bsky.socialDiscover more: https://bit.ly/4cNzjtE
Columnist Hollie Amadio started using her voice because she wanted to be heard. Now, she works to ensure other patients are heard, too.
@mgnews.bsky.socialProgression risks of undertreated MG: https://bit.ly/3Qkofvu
#MyastheniaGravis #RareDisease #MyastheniaGravisNews #Bionews
@curegm1.bsky.socialBabies die from GM1, not for lack of a cure, but for lack of funding. Enzyme replacement therapy transforms other rare diseases—GM1 is next. Fund the cure. See the plan: curegm1.org/ert-project Fuel progress: curegm1.org/donate #CureGM1 #RareDisease
@angioedemanews.bsky.socialDiscover more: https://bit.ly/4yDIW6B
A young woman with lupus developed recurrent angioedema despite normal C1-INH levels and function, with complement activation suspected.
@nordrare.bsky.socialIs a career in #RareDisease research in your future? Questions remain unanswered for 10,000+ rare diseases. The next generation can move the field forward.
Explore NORD's free Rare Research Launchpad for undergrad, graduate, #MedSchool & early-career learners: learn.rarediseases.org/courses/rare...
@angioedemanews.bsky.socialTake a closer look: https://bit.ly/3Tdrx5A
The FDA granted priority review to an application for a one-time gene-editing therapy for HAE, with a decision on approval now due in March.
@alsnewstoday.bsky.socialHave you ever wondered if a devastating diagnosis could actually change your life for the better?
This week, I was reflecting on a column over at ALS News Today by my Bionews colleague Dagmar Munn - https://bit.ly/4xxJQRp
@missnieto.bsky.socialInjection day! Good news is I don’t have to do any more labs till Nov!
#XLH
#crysvita
#raredisease
xlhnetwork.org
@angioedemanews.bsky.socialGet the scoop: https://bit.ly/4isVDwp
The coming Jewish holiday is a time of introspection, self-evaluation, and a new beginning for columnist Natalie Sirota.
@mgnews.bsky.socialDiscover more: https://bit.ly/3SMVkCf
A blood immune marker measured after thymectomy was linked to lower odds of MG recurrence in people without thymoma, a study found.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@rarectadvocate.comCrimean-Congo Hemorrhagic Fever (CCHF) is a tick-borne viral illness that can progress from flu-like symptoms to severe bleeding, shock, & organ failure, with outbreak fatality rates up to 30%
Learn more: https://dub.sh/CCHF
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netPhenylketonuria: #Radiology findings https://gamuts.net/x/27569 #RareDisease #FOAMrad #Gamuts
@fedifind.bsky.socialRaising Elsie: the love, hope and pain of parenting a child with a one-in-163-million genetic disorder https://www.theguardian.com/lifeandstyle/2026/sep/16/love-hope-pain-raising-elsie-rare-genetic-disorder #lifestyle #parenting #raredisease
@fediboardlifestyle.bsky.socialA former film PR professional writes about raising her daughter Elsie, who was born with an ultra-rare genetic disorder — describing the shift from managing campaigns to fighting the biggest battle of
@erneurogen.bsky.social🚨 TONIGHT! 🔵 Preventing UTIs in neurogenic bladder: webinar with José Medina-Polo exploring the evidence on optimal UTI prevention, incl non-antibiotic approaches.
📅 16 Sept 🕕 18:00 CEST
🎓 EACCME accredited
🔗 tinyurl.com/eurogen16sep26
#EUfunded #EU4Health #HealthUnion #RareDisease #ERNs #Urology
