#fabrydisease
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cctb-wue.bsky.social
Many congratulations to our very own Magdalena Schuettler on her amazing Masters thesis defence on #FabryDisease with proud PI @iimog.sigmoid.social.ap.brid.gy
June 11, 2025 at 10:32 AM
checkrare.bsky.social
💡Rare Disease Spotlight: Fabry Disease

Learn more about this rare disease at checkrare.com?s=Fabry+Dise...

#CheckRare #RareDisease #FabryDisease #RareLysosomal
February 26, 2025 at 7:59 PM
arunkumarnephro.bsky.social
13/n 🏥 Final Diagnosis:

🔹 Class V Lupus Nephritis 🦋
🔹 Fabry Nephropathy 🧬 (podocytic lipidosis)
✨ A rare Lupus + Fabry overlap! 🔍
💊 Next: Tackling autoimmune & genetic components! 🚀

#Nephrology #Lupus #FabryDisease

#ECNeph @myadla.bsky.social @theisn.org
March 7, 2025 at 4:53 PM
jradnephro.bsky.social
THIS WEEK: 'Anderson-#Fabry Disease: Update in Diagnosis & Treatment’ – a virtual conference on Friday, December 6, 2024. Registration & Info:
www.eventleaf.com/e/Fabry2024

#FabryDisease #CardioTwitter #NephTwitter #NephPearls #Nephrology #Nephrologist #Cardiology
December 2, 2024 at 8:58 PM
arunkumarnephro.bsky.social
14/n 🧐 #FabryDisease & SLE – A Rare Duo?

✅ Fabry patients may have autoantibodies (ANA, dsDNA, APLA) 🧬🔄
✅ Often misdiagnosed as lupus nephritis 🏥
✅ Both cause proteinuria & CKD, but via different mechanisms!
#Nephrology #Lupus

#ECNeph

@theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social
March 7, 2025 at 4:53 PM
checkrare.bsky.social
Dawn Laney, genetic counselor at the Emory University School of Medicine, discusses a Fabry disease registry analysis examining growth in children being treated with agalsidase beta.

checkrare.com/improved-gro...

#CheckRare #FabryDisease #RareLysosomal
March 11, 2025 at 5:16 PM
arunkumarnephro.bsky.social
6/n 🧬#FabryDisease – When & How?🤔

👶Early: Neuropathic pain🔥, GI issues🤢
👨‍⚕️Young Adults: Proteinuria🚰, LVH❤️, corneal whorls👁️
⏳Late: CKD🏥, strokes🧠, arrhythmias⚡
🚺Females: Variable symptoms due to X-inactivation!
#Nephrology
#ECNeph @myadla.bsky.social
March 7, 2025 at 4:48 PM
arunkumarnephro.bsky.social
5/n #FabryDisease-Quick Facts
X-linked GLA mutation→α-gal A def→Gb3 buildup
🔹Neuropathic pain🔥 Angiokeratomas🩸 Corneal whorls👁️
🔹Proteinuria, CKD
🔹 LVH❤️arrhythmias⚡
🔹Early stroke

#ECNeph
@theisn.org @myadla.bsky.social @arunkumarnephro.bsky.social
March 7, 2025 at 4:40 PM
jimd-editors.bsky.social
Women with Anderson–Fabry disease are still being missed.
This meta-analysis shows genetic testing detects ~4× more cases than enzymatic tests in high-risk women — especially after stroke.
Normal enzymes ≠ no Fabry.

doi.org/10.1002/jimd...

#FabryDisease #RareDisease
February 9, 2026 at 5:59 AM
rarediseaseadvisor.bsky.social
#FabryDisease is severe and causes considerable burden in female patients, according to a study that appeared in the Journal of Medical Genetics. The study also showed that #Migalastat is efficient in the long term in these patients.

Learn more: https://bit.ly/3KB4ahQ

#RareDisease #MedSky #RareSky
Migalastat Efficient in Female Patients With Fabry Disease
Fabry disease is severe and causes considerable burden in female patients and migalastat is efficient in the long term in these patients.
bit.ly
October 6, 2025 at 5:06 PM
checkrare.bsky.social
CME: Fabry Disease Research Highlights

Learn more at checkrare.com/learning/p-f...

#CheckRare #CME #FabryDisease
May 23, 2025 at 3:37 PM
arunkumarnephro.bsky.social
12/n 🎉 Voila!
📜 Genetic report + enzyme analysis = #FabryDisease diagnosis confirmed!🧬✅
🔹 Low α-Gal A 🧪 + GLA mutation 🔍
🧐 Pathology hinted, genetics sealed it!
💊 Now, let’s talk treatment! 🚀 #Nephrology #Genetics

#ECNeph
@myadla.bsky.social @theisn.org
March 7, 2025 at 5:19 PM
pharmaphorum.bsky.social
A #genetherapy for #Fabrydisease could be on the horizon, after a clinical trial readout for #SangamoTherapeutics' ST-920 hit its safety and efficacy endpoints.

buff.ly/A51kdwd
June 25, 2025 at 12:00 PM
gimopenjournal.bsky.social
Improving intrafamily communication in #FabryDisease is key to #earlydiagnosis. Expert insights offer strategies to overcome knowledge, emotional, and systemic barriers for better outcomes. bit.ly/49FJHmg #GIMO #FamilyScreening #GeneticCounseling #CommunicationBarriers
January 28, 2026 at 10:32 PM
genesndiseases.bsky.social
This recent review examines the #Pathophysiology of #Fabrydisease (FD) in its primary target organs and summarizes #Omics-based advances that hold great promise for tailored #therapeutic strategies in FD. #medsky

#OpenAccess: www.sciencedirect.com/science/arti...
December 2, 2025 at 12:31 PM
rarediseaseadvisor.bsky.social
#ASHG2025: Roberto Araujo, MD, PhD, Senior North America Medical Director for #Fabry and #Pompe disease at Sanofi, speaking Oct. 15 at the @geneticssociety.bsky.social 2025 conference in Boston.

#RareDisease #FabryDisease #PompeDisease #Sanofi #MedSky #RareSky
October 16, 2025 at 3:08 PM
whoa-magic.lol
Medical #cannabis eases man’s nerve pain after other treatments fail
#FabryDisease #Neuroprotectant

fabrydiseasenews.com/news/medical...
Medical cannabis eases man's nerve pain after other treatments fail
Medical cannabis was able to ease nerve pain in a man with classic Fabry disease, after he failed to respond to standard therapies.
fabrydiseasenews.com
December 19, 2023 at 8:14 AM
jradnephro.bsky.social
Join us tomorrow for ‘#FabryDisease 2025: Advances in Diagnosis & Treatment for #Anderson-Fabry’ - a virtual conference on December 5, 2025 with 5.50 ACCME credits. Click for info: www.eventleaf.com/e/Fabry2025
#Kidney #Cardiology #Gastroenterology #ENT #Opthalmology
December 4, 2025 at 3:41 PM
jimd-editors.bsky.social
Female Fabry disease remains difficult to predict. Can combining α-galactosidase A activity, lysoGb3 and X-chromosome inactivation improve phenotype classification? This study suggests a tri-parametric approach may provide a clearer picture. #FabryDisease #RareDisease #LSD
doi.org/10.1002/jimd...
July 1, 2026 at 8:13 AM
nanbiosis.com
#RareDiseaseDay📢 Join us on April 29 at ICMAB for Fabry Connections: Science, Patients & Future; a day of discussions, research insights & #FabryDisease patient voices.

More info: www.nanbiosis.es/awareness-an...

#Nano4Rare #RareDiseases #NanbiosisExpertise #CEBS #ICTSnews
February 28, 2025 at 4:27 PM
rarediseaseadvisor.bsky.social
Researchers identified a plasma proteomic signature that can detect cardiac involvement in #FabryDisease with high accuracy. Study in the Journal of Molecular Medicine.

Read here: https://bit.ly/4tAvCxo

#RareDisease #MedSky #Cardiology
Researchers Identify 10-Protein Panel That Detects Early Cardiac Involvement in Fabry Disease
A plasma proteomic signature that identifies cardiac involvement in Fabry disease may enable earlier detection and risk stratification.
bit.ly
April 9, 2026 at 2:27 PM
jimd-editors.bsky.social
Infusion reactions and antidrug antibodies can complicate enzyme replacement therapy in #FabryDisease.

New in #JIMD: Janssens et al. examine their occurrence and whether preventive measures can reduce the risk.

🔗 doi.org/10.1002/jimd...
August 26, 2026 at 11:44 AM
theminingnews.bsky.social
🚀 Zacks Small Cap Research - PLX: Elfabrio Estimates Up
🔎 Read the full update:
➡️https://theminingnews.com/zacks-small-cap-research-plx-elfabrio-estimates-up/
#Protalix #Protalix #ElfabrioP#PRX115r#PLXe#FabryDiseaset#GoutTreatmentu#OrphanDrug##PhaseIIr#RELEASETrialu#BRIGHTStudyP#EMAA#CHMP#EUApprov
August 14, 2026 at 2:46 AM
pharmaphorum.bsky.social
Just a few weeks after filing for #bankruptcy protection, #SangamoTherapeutics has found #buyers for some of its key assets, including a #Fabrydisease therapy and its #genomicmedicine platforms.

pharmaphorum.com/news/lilly-p...
Lilly, PTC snap up bankrupt Sangamo's main assets
Just a few weeks after filing for bankruptcy protection, Sangamo has found buyers for some of its key assets, raising up to $263.5m.
pharmaphorum.com
August 13, 2026 at 2:29 PM
genomenon.com
In our latest #blog we take a deep dive into advancing #Fabrydisease understanding through comprehensive curation of the GLA gene 🧬 www.genomenon.com/blog/advanci...
April 16, 2025 at 1:57 PM