Take a closer look: https://bit.ly/46I2cnF
Columnist Natalie Sirota recently had the pleasure of meeting Friedreich's ataxia columnist Matt Lafleur, a key part of the Bionews family.
@angioedemanews.bsky.social
@angioedemanews.bsky.socialTake a closer look: https://bit.ly/46I2cnF
Columnist Natalie Sirota recently had the pleasure of meeting Friedreich's ataxia columnist Matt Lafleur, a key part of the Bionews family.
@mgnews.bsky.socialGet the scoop: https://bit.ly/3T2G4Bk
Thymectomy can help keep generalized myasthenia gravis under control in older patients without a thymus tumor, according to a study.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@rarectadvocate.comChronic Lymphocytic Leukemia (CLL): a slow-growing blood cancer often found on routine bloodwork. You may be rare, but you're not alone! rarectadvocate.com
Learn more: cllsociety.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@franmartinezgr.bsky.socialModulating splicing in 5ʹ untranslated regions to treat rare haploinsufficient disease #RareDisease #Genetics link.springer.com/article/10.1...
@gamuts.netAcute disseminated encephalitis: Imaging findings https://gamuts.net/x/20012 #radiology #RareDisease #FOAMed
@genox-veille.frMolecular diagnosis of 21-hydroxylase deficiency is complicated by the high homology between CYP21A2 and its pseudogene CYP21A1P.
@mackeithpress.bsky.socialFamilies report that heatwaves can worsen seizures in children with Dravet syndrome, adding to caregiver burden and limiting participation
#DravetSyndrome #Epilepsy #Seizures #RareDisease
onlinelibrary.wiley.com/doi/10.1111/...
@idepiheather.bsky.socialA child with a nearly always-fatal “brain-eating amoeba.” An unexpected recovery. And a remarkable example of what can happen when the right people, evidence, and treatments come together.
I’ll tell the story at FDA Grand Rounds:
📅 Sept. 24 | 🕛 12 PM ET
@zebrabande.bsky.socialUnd für mich rational abrufbar heißt bei einer #dissoziativeIdentitätsstörung manchmal nicht viel...
#EhlersDanlosSyndrom #rareDisease #Kptbs #dis #selteneErkrankung
@curegm1.bsky.socialDecades of rare disease expertise focused on one goal: advancing enzyme replacement therapy for GM1 to clinical trials. The team & science are ready. We just need funding to finish. Meet the team: curegm1.org/ert-project Join the fight: curegm1.org/donate #CureGM1 #GM1Gangliosidosis #RareDisease
@franmartinezgr.bsky.socialA rare recurring gain-of-function variant in BMPR2 causes neurodevelopmental phenotypes in humans and flies #RareDisease #Genetics #NewPhenotype #morbidgene www.cell.com/ajhg/abstrac...
@angioedemanews.bsky.socialGet the scoop: https://bit.ly/4rkCYoJ
Lower blood levels of the FAP enzyme may help distinguish idiopathic angioedema from other angioedema types, a study suggested.
@erneurogen.bsky.social🔎 Could ultrasound reduce the need for radiation when monitoring bowel management? Join our webinar on clinician USS in children with colorectal conditions.
📅 23 Sept | 18:00–19:00 CEST
@liposarcomasupport.bsky.socialExplore the Liposarcoma Support Network’s YouTube channel for #Liposarcoma stories, expert insights, and helpful resources. Check it out! bit.ly/YouTubeLSN
#Sarcoma #RareDisease #LipoCommunity
@mgnews.bsky.socialGet the scoop: https://bit.ly/4cSuyzc
Columnist Shawna Barnes did everything right to pace herself, but the reality of life with MG caused other obligations to fall off her radar.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@rarectadvocate.comZellweger Syndrome is the most severe peroxisomal biogenesis disorder, caused by PEX gene mutations that leave infants without functioning peroxisomes from birth.
Learn more: https://thegfpd.org/
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.net#RareDisease: Pulmonary atresia - intact ventricular septum https://gamuts.net/x/13699 #radiology #FOAMed #FOAMrad
@pickereurope.bsky.socialThe findings have provided valuable evidence to help identify unmet needs and inform improvements in awareness, information and support.
Read the case study to find out more: bit.ly/MarfanTrustCS
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#PatientExperience #PatientVoice #RareDisease #HealthcareImprovement #PickerInsights
@plosmedicine.orgIn this Perspective, Gemma Whyatt & Jodi Whitehouse—two women living with the rare condition Congenital Melanocytic Naevus—outline why lived experience must shape #raredisease #research, & discuss how genuine patient-researcher partnership transforms science, care & identity🧪 #MedSky
plos.io/4yaxMqe
@care-beyondlimits.bsky.socialHow much do you really know about microcephaly? 🤔 Continuation...
#MythOrFact #Microcephaly #EndTheStigma #RareDisease #DisabilityInclusion #Kenya
