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.

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

a picture of a smiling moon with red eyes and the words time for red eyes ALT: a picture of a smiling moon with red eyes and the words time for red eyes

Dabbing cannabis concentrate is a whole other level.
Effective, medical-grade effects (re: for my qol mgmt for #FabryDisease).
Psa, do not operate heavy machinery afterwards.

Lyso-Gb3 levels were elevated earlier than clinical symptoms in infants with LO FD, increased significantly in the first 2 years of life, and remained stable during follow-up. bit.ly/4ufQL18 #GIMO #Globotriaosylsphingosine #LysoGb3 #FabryDisease #LaterOnsetVariants

Fabry Disease Often Missed in Women, But Genetic Testing May Close Diagnostic Gap Genetic testing detects 4 times as many Fabry disease cases as enzymatic methods in women, an under-recognized patient population.

In a recent meta-analysis published in the @jimd-editors.bsky.social, #GeneticTesting identified #FabryDisease in female patients at 4 times the rate of enzymatic protocols.

Read here: https://bit.ly/3MTCqq6

#RareDisease #MedSky

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

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

Sangamo Begins FDA Rolling BLA Submission of Isaralgagene Civaparvovec for Fabry Disease Sangamo initiated a rolling BLA submission to the FDA for isaralgagene civaparvovec (ST-920), a gene therapy for Fabry disease.

Isaralgagene civaparvovec (ST-920), Sangamo Therapeuticss’ investigational gene therapy for #FabryDisease, moved closer to potential approval after the US FDA accepted the company’s request for a rolling submission of its Biologics License Application (#BLA).

Read more: https://bit.ly/3Z11tKe

Fabry Disease Market Size, Share, Trends, Report 2035 Fabry Disease Market growth is projected to reach 5.58 USD billion, at a 7.82% CAGR by driving industry size, share, top company analysis, segments research, trends and forecast report 2025 to 2035.

🧬 Fabry Disease Market expands with rising enzyme replacement therapies. Report: www.marketresearchfuture.com/reports/fabr... #FabryDisease #RareDiseases

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...

#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

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.

#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

Sabina went from caring for her dad with Fabry disease to joining a clinical trial, and now she helps researchers shape studies around real family needs. See how patients are changing rare-disease research: www.clinicaltrialsforall.org

#RareDisease #FabryDisease #PatientVoice

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

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

CME: Fabry Disease Research Highlights

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

#CheckRare #CME #FabryDisease

Cell and Gene Therapy Weekly News – May 8th 2025 This Week in Gene & Cell Therapy: Gene Therapy Milestones, Strategic Shifts, and Breakthroughs in Oncology and Cardiology 🧬 From […] The post Cell and Gene Therapy Weekly News – May 8th 2025 appeared first on LucidQuest Ventures.

FYI: LucidQuest Views >>> Cell and Gene Therapy Weekly News – May 8th 2025 #News #FabryDisease #CARTTherapy #Glioblastoma #DMD Comment below!

Cell and Gene Therapy Weekly News – May 8th 2025 This Week in Gene & Cell Therapy: Gene Therapy Milestones, Strategic Shifts, and Breakthroughs in Oncology and Cardiology 🧬 From […] The post Cell and Gene Therapy Weekly News – May 8th 2025 appeared first on LucidQuest Ventures.

ICYMI: LucidQuest Views >>> Cell and Gene Therapy Weekly News – May 8th 2025 #News #FabryDisease #CARTTherapy #Glioblastoma #DMD Comment below!

Cell and Gene Therapy Weekly News – May 8th 2025 This Week in Gene & Cell Therapy: Gene Therapy Milestones, Strategic Shifts, and Breakthroughs in Oncology and Cardiology 🧬 From […] The post Cell and Gene Therapy Weekly News – May 8th 2025 appeared first on LucidQuest Ventures.

LucidQuest Views >>> Cell and Gene Therapy Weekly News – May 8th 2025 #News #FabryDisease #CARTTherapy #Glioblastoma #DMD Comment below!

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...

🎙️ New Podcast Alert! Dive into Fabry disease with coauthors Cecilia Delprete, Friederike Uhlig, Marco Caprini, and Niall P. Hyland. Discover how lyso-Gb3 impacts #GutHealth!

🎧ow.ly/6XRO50VAlfu

#FabryDisease #biomarker #UssingChamber @fuhlig.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

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

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

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

Fabry Disease - an inherited disorder that results from abnormal deposits of a particular fatty substance in blood vessel walls throughout the body. #Fabry #FabryDisease

Learn more at fabry.org & fabrydisease.org

You may be rare, but you are not alone!
#rareDisease #rareDiseaseAwareness

#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

💡Rare Disease Spotlight: Fabry Disease

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

#CheckRare #RareDisease #FabryDisease #RareLysosomal

a blue background with the words medicare matters in white letters ALT: a blue background with the words medicare matters in white letters

Galafold, my #FabryDisease treatment, is $30k/mo. & is covered by #Medicare & part d with "extra help" to cover my medicine 100%. This med protects me from further progression of the disease, giving me a better quality of life & avoiding worst case outcomes that used to result in renal failure.

Exegenesis Bio's EXG110 Receives Orphan Drug Designation from FDA for Fabry Disease Exegenesis Bio, a global clinical-stage gene therapy company, is thrilled to announce that the U.S.

www.linkedin.com/pulse/exegen...

Exegenesis Bio's EXG110 Receives Orphan Drug Designation from FDA for Fabry Disease

kstrategyand.com/pharma-news

#ExegenesisBio #EXG110 #OrphanDrugDesignation #FabryDisease #GeneTherapy #FDA #RareDiseases #BiotechInnovation #Humanteconomy #Humantech #KStrategyand

Proud to see the h/p/cosmos quasar treadmill aiding Fabry disease research by University of Birmingham. Learn more 👉 heart.bmj.com/content/hear... #FabryDisease #CardiopulmonaryTesting #hpcosmos #MedicalResearch #HaBDirect