U01.17.007 Marfan syndrome U01.17.003 Summary: Explore the genetics of this connective tissue disorder. Understand the "Upward and Outward" lens subluxation and why echocardiography is the most critical monitoring tool.

Marfan Syndrome: The Fibrillin-1 Defect
#USMLEStep1 #MedEd #Genetics #MarfanSyndrome #Cardiology #ConnectiveTissue #Step1Prep #HighYield #MedSchool #AorticDissection #Pediatrics #Fibrillin #FutureDoctor #StudyGram #MedTwitter #Anki #BoardExams #MedicalStudent #FirstAid #MedicalSchool #PreMed #Physio

I'm sorry. 😖
#NEISvoid #hEDS #marfansyndrome #EDS #MECFS #POTS #MCAS #AuDHD #actuallyautistic #ADHD #disabled #mutualaid

Novel Generation‐Skipping Inheritance Pattern of Marfan Syndrome Due to FBN1 Insertional Translocation: Diagnostic Utility of FISH and Implications for Genetic Counseling Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the fibrillin‐1 (FBN1) gene on Chromosome 15q21.1. A 3‐year‐old female presented to the clinic with MFS and a family history of an affected ...

wake up babe new *inheritance pattern for #MarfanSyndrome* just dropped!

SO interesting. Familial #Marfan syndrome with an unaffected parent. The potential for trisomy FBN1 (would aorta and joints be extra strong?!) I love old-school #HumanGenetics. #Genetics pmc.ncbi.nlm.nih.gov/articles/PMC...

Single-cell Proteomics🔥 #MarfanSyndrome
Aortic Root
Fbn1 C1041G/+🐭

2.4k proteins
3.5k cells
487 proteins/cell👈

7 Smooth Muscle Cell subtypes
Prss2, Lrp1 as modulated SMC markers

vs scRNAseq

+SeqIF (21 Ab)

#AortaEd
Sarah Parker lab #MolCellProteomics 2026
www.mcponline.org/article/S153...

The Marfan Foundation | Know the Signs | Fight for Victory The Marfan Foundation helps people living with Marfan, Loeys-Dietz, VEDS, Stickler & related genetic aortic conditions to Know.Connect.Thrive.

This is the Marfan Foundation, a resource for folks with genetic vascular conditions (especially Marfan syndrome)

#MarfanSyndrome #EDS #vEDS #ChronicIllness #Resources
#KnowledgeIsPower #Community 💕 #Wellness

This is a useful seminar for anyone with #vEDS, Marfan syndrome, Stickler, or other genetic vascular condition. I'll share the link to the Marfan Foundation in the reply, & the shortened link here is for the free seminar:

tinyurl.com/5nzmt55v

#EDS #ChronicIllness #MarfanSyndrome 💕 #Wellness

For both #RareDisease month and #MarfanSyndrome awareness month, I thought I'd share this article I wrote for the @ahajournals.bsky.social about being a patient-scientist working on developing genetic therapies for my condition and related conditions.

"Marfan syndrome is a connective tissue disorder that affects body growth. Connective tissue provides support for your skeletal structure and all the organs of your body."

#MarfanSyndrome #MarfanSydromeAwarenessMonth

www.healthline.com/health/marfa...

Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

Combined pectus and cardiac repair can be done safely. The modified open #Nuss showed excellent outcomes and may outperform Ravitch when feasible. #Bentall #CardiacSurgery #PectusExcavatum #ThoracicSurgery #MarfanSyndrome journals.sagepub.com/doi/10.1177/...

What do you do when you look in the mirror and see the face of your own abuser looking back?

patreon.com/TheHorrorsOf...

#TheHorrorsOfBeingAlive #BodyHorror #horror #onlinecomic #preproduction #trauma #narcissisticabuse #cptsd #mdd #marfansyndrome #CareAsResistance #pronepolkey #prone

🌍 “Together we can!”

Our latest #PatientAdvocacy interview is with the #MarfanEuropeNetwork, an organization of 14 national #MarfanSyndrome patient groups. Learn how they bring communities together here:

➡️ doi.org/10.1002/1873-3468.70183

Here’s to people with #marfansyndrome living longer healthier lives 🥺 #ASHG25

Everybody in this room now knows what #MarfanSyndrome is. That knowledge alone will save lives. #ASHG25 #Marfan

Incredibly surreal moment watching Dr. Hal Dietz win the #ASHG25 Lifetime Achievement Award. The discovery that FBN1 is the causal gene of #MarfanSyndrome has saved my life and my family’s lives. I hope to continue contributing to this field to help patients like me.

Pelvic Organ Prolapse Support | Resources, Treatment & Community Learn about pelvic organ prolapse with trusted resources, treatment options, FAQs, and community support to help women find guidance, hope, and care.

Pelvic Organ Prolapse is highly co-occurring in hypermobile patients with any form of connective tissue disorders, including the #EDS #HSD and #MarfanSyndrome. Find support here:
www.pelvicorganprolapsesupport.org
#spoonie #Spoonies #zebras #POP #hEDS #health #NEISvoid

Who is Daddy Long Neck and Why is He Trending? Rumors of His Death Spread Online TikTok star Daddy Long Neck, real name David Samuelson Jr, is trending after unconfirmed death rumors spread online. The internet personality from Flint, Michigan, known for his viral videos, Marfan s...

Who is Daddy Long Neck and Why is He Trending? Rumors of His Death Spread Online
#DaddyLongNeck #DavidSamuelson #TikTokStar #InternetPersonality #DeathRumors #ViralStar #MarfanSyndrome #FlintMichigan #SocialMediaBuzz #InfluencerNews
gtvnewshd.com/biography/20...

Versican, but not Aggrecan, ➡️⏫AKT-iNOS➡️⏫🐭Fbn1C1041G/+ #MarfanSyndrome

Vcan, but not Acan, hetero KO ⏬#AorticAneurysm of Marfan🐭

Lentiviral shVcan start⏬ascending & abdominal aortic diameters in 3 days!!🥸

#AortaEd
#EmboMolMed 2024
www.embopress.org/doi/full/10....

Do you have #MarfanSyndrome or #LoeysDietzSyndrome, or support someone who does? If you’re also aged 16+, living in the #UK, we want to hear from you. Please spare 20 minutes to take part in our anonymous survey about your experiences of living with or supporting someone with the syndromes.

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My Cardiac Care Journal: A Daily Log of Vital Signs | 15 Weeks Amazon.com: My Cardiac Care Journal: A Daily Log of Vital Signs | 15 Weeks: Burns, Shana McKay: Books

For every journal we sell we donate one to a local cardiology unit. If you’ve had cardiac surgery this journal may be for you. It’s not advice. That’s for your doctor to give. This is a colorful place to keep track of daily vitals.
#Marfans #selfcare #MarfanSyndrome

www.amazon.com/dp/B0DNT8JJGT

Enhanced Optic Nerve Expansion and Altered Ultrastructure of Elastic Fibers Induced by Lysyl Oxidase Inhibition in a Mouse Model of Marfan Syndrome Two major constituents of exfoliation material, fibrillin-1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1), are implicated in exfoliation glaucoma, yet their individual contributions to ocular p...

#LegacyContent: Enhanced Optic Nerve Expansion and Altered Ultrastructure of Elastic Fibers Induced by Lysyl Oxidase Inhibition in a Mouse Model of #MarfanSyndrome. Authors from @vanderbilt.edu.

#OpenAccess: ajp.amjpathol.org/article/S000...

Login | The National Academies Press

#EhlersDanlos
#Disability
#MarfanSyndrome
#ConectiveTissueDisorders
#♿

Helpful information for folks with Ehlers Danlos & Marfan Syndrome.

nap.nationalacademies.org/download/26431

More than meets the eye. Non-canonical #FBN1 splice variants may account for ~3% of families with undiagnosed #FTAAD. bit.ly/3IhIN48 #Marfansyndrome #PrecisionMedicine #RNAtesting

Podcasting with Marfan syndrome: Turning up speech quirks and tuning out self-doubt Why does my podcast sound a little different? Could be the crickets, the trains, or the interesting effects of Marfan Syndrome on my voice? In this personal post, I get real about my speech difference...

DID YOU KNOW I have Marfan Syndrome?

And I podcast?

And I blog about podcasting with Marfan Syndrome?

NOW YOU KNOW

#podcasting #realvoices #marfansyndrome #speechdifferences #disabilitytalk #neurodivergentvoices

word.smithing.ca/human-stuff-...

#AI #FacialAnalysis #VascularEhlersDanlosSyndrome

30 vEDS @MACAorta
21 hEDS
597 #ChicagoFaceDatabase

#Phenoscore QMagFace (once working on #MarfanSyndrome + other #RareGeneticDiseases)
LIME for feature interpretation

#GIMO 2025
www.sciencedirect.com/science/arti...

Arterial vs Aortic Events in #HeritableThoracicAorticDisease
N=1790
#VascularEhlersDanlosSyndrome
#LoeysDietzSyndrome
#MarfanSyndrome

Risk by 40 y/o
Arterial
♂️vEDS>LDS~MFS
♀️vEDS~LDS>MFS

Aortic
TGFBR2>FBN1>TGFBR1~TGFB2>COL3A1~SMAD3

#AortaEd
#JACC 2025
www.sciencedirect.com/science/arti...

Rare Diseases Weekly News – May 29th 2025 🔬 Rare Diseases Update: Orphan Drug Designations, Gene Therapies, Diagnostic Breakthroughs & More This week’s roundup highlights pivotal orphan drug […] The post Rare Diseases Weekly News – May 29th 2025 appeared first on LucidQuest Ventures.

FYI: LucidQuest Views >>> Rare Diseases Weekly News – May 29th 2025 #News #genetherapy #genomics #Marfansyndrome Comment below!

I did my first significant #Marfansyndrome experiment today. No matter how it turns out, I’m proud I’ve gotten this far. Four years ago I imagined today and before grad school I never would have thought this was possible. Being a patient-scientist isn’t easy but I don’t take it for granted! #marfan

Rare Diseases Weekly News – May 29th 2025 🔬 Rare Diseases Update: Orphan Drug Designations, Gene Therapies, Diagnostic Breakthroughs & More This week’s roundup highlights pivotal orphan drug […] The post Rare Diseases Weekly News – May 29th 2025 appeared first on LucidQuest Ventures.

ICYMI: LucidQuest Views >>> Rare Diseases Weekly News – May 29th 2025 #News #genetherapy #genomics #Marfansyndrome Comment below!

Rare Diseases Weekly News – May 29th 2025 🔬 Rare Diseases Update: Orphan Drug Designations, Gene Therapies, Diagnostic Breakthroughs & More This week’s roundup highlights pivotal orphan drug […] The post Rare Diseases Weekly News – May 29th 2025 appeared first on LucidQuest Ventures.

LucidQuest Views >>> Rare Diseases Weekly News – May 29th 2025 #News #genetherapy #genomics #Marfansyndrome Comment below!

⏬Mechanosensing & ⏫inflammation of aortic #EndothelialCell as a potential disease driver in #MarfanSyndrome 😎

A novel Marfan🐭➡️early #ThroacicAorticDissection #AorticRupture Fbn1G234D/G234D T50=5 wk

⏬pSMAD2 ↔️pERK1/2

#AortaEd
Hiromi Yanagisawa lab #CircRes 2025
www.ahajournals.org/doi/suppl/10...