Every morning is a new chance to rewrite your story: seize the day. ☀️ #RareDisease

Pemphigus Vulgaris is a rare autoimmune disease causing painful blisters on skin and mucous membranes. It is potentially fatal without treatment.

Learn More: pemphigus.org

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

Flat face - microstomia - ear anomaly: Imaging findings https://gamuts.net/x/34288 #radiology #RareDisease #FOAMed

Shane in baseball cap, standing on the bridge above the Woodburn river, Carrickfergus. Training for the #BelfastMarathon Belfast Marathon - Strava link here: https://www.strava.com/activities/17897829294 Fundraising link here: https://www.justgiving.com/page/shane-mckee-6?utm_medium=FA&utm_source=CL Raising funds to support NIRDP - Northern Ireland Rare Disease Partnership, supporting families with rare (mainly genetic) conditions, helping set policy, advocating for research & service development.

https://www.justgiving.com/page/shane-mckee-6?utm_medium=FA&utm_source=CL

Training for #BelfastMarathon (OK, just one leg!) continues despite wind & rain. You can tell which way the wind was blowing from my pace... [Strava in ALT]

Supporting NI #RareDisease Partnership: www.justgiving.com/page/shane-m...

Sure, sponsor us! 5 crew from Northern Ireland Genetics🧬
🏁🏃‍♀️🏃‍♀️🏃‍♀️🏃‍♀️🏃‍♂️

Gene therapy: the only hope for Sydney sisters with ultra-rare genetic disease Sisters Mary and Neveah Taouk have PGAP1-CDG, one of the world's rarest genetic disorders. Their parents are funding gene therapy research.

Gene therapy: the only hope for Sydney sisters with ultra-rare genetic disease

#RareDisease #GeneTherapy #ChildHealth #MedicalResearch #AusNews

thedailyperspective.org/article/2026-03-29-gene-...

Find adaptive clothing ideas that make SMA life more comfortable: https://bit.ly/45uFRZI

#SMA #SpinalMuscularAtrophy #SMANewsToday #Bionews #RareDisease

Plan smarter travel ✈️ https://bit.ly/4puyfhW

Our guide highlights key things to consider, from air quality and altitude to heat, allergens, and water safety, so you can travel more confidently with CF.

#CysticFibrosis #CFNews #CysticFibrosisNewsToday #CFCommunity #RareDisease #Bionews

Self-Inactivating CRISPR-Cas9 System Reduces mHTT With Fewer Off-Target Effects in HD Mice Researchers developed a self-inactivating CRISPR-Cas9 gene-editing approach that reduced mHTT with improved safety in HD mice.

Researchers developed a gene-editing approach that effectively reduced mutant huntingtin (#mHTT) levels and reversed key features of #HuntingtonDisease (HD) in a mouse model. Reported in Science Advances

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

#RareDisease #GeneEditing #MedSky

What a beautiful day for a meetup in Leicester, NC! Thanks to those who attended.

Stay tuned to our socials/newsletter/Heylo when and where the next meetup will be for Western NC

Where would you like us to have a meetup at?

#HDreach #ReachForHope #raredisease #huntingtonsdisease

Primary Ciliary Dyskinesia (PCD) is a rare inherited disorder causing defective cilia, leading to chronic respiratory infections, organ abnormalities, and infertility.

Learn more: pcdfoundation.org

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

Intellectual deficit - polydactyly - uncombable hair: Imaging findings https://gamuts.net/x/34682 #radiology #RareDisease #FOAMed

Honored to present our lab's research on Familial Partial Lipodystrophy at the 2026 WashU Pediatric Research Retreat! 🔬 iPSC-derived adipocytes + human adipose snRNA-Seq = new insights into a rare & complex disease. #Lipodystrophy #RareDisease #StoneLab #PedsResearch

Incredibly proud of post-bacc McKinlee Gobble presenting her poster on FGF21 signaling & insulin-mediated pseudoacromegaly at the 2026 WashU Pediatric Research Retreat! 🌟 Rare disease research, big impact. #FGF21 #RareDisease #PedsResearch #StoneLab

Find options and advice for treating scoliosis in SMA: https://bit.ly/4mC3FSd

#SMA #SpinalMuscularAtrophy #SMANewsToday #Bionews #RareDisease

Macitentan and Tadalafil Combination Shows Sustained Efficacy in PAH In a recent study, long-term combination therapy with macitentan and tadalafil demonstrated favorable tolerability and sustained efficacy in patients with PAH.

Long-term treatment with a single-tablet fixed-dose combination of #Macitentan and #Tadalafil is well tolerated and maintains efficacy over 2 years in patients with pulmonary arterial hypertension (#PAH).

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

#RareDisease #MedSky #PulmonaryArterialHypertension

First Ethnopharmacological Report Published on Tanzanian Medicinal Plants Against SCD More than 100 medicinal plants are traditionally used to manage sickle cell disease (SCD) in Tanzania, according to a new survey.

More than 100 medicinal plants are traditionally used to manage sickle cell disease (#SCD) in Tanzania. Study in Scientific African.

Read here: https://bit.ly/4uW3AxK

#RareDisease #SickleCellDisease

In MG, Patient-Reported Respiratory Measure Is a Poor Substitute for Spirometry In generalized MG, respiratory symptoms assessed using the patient-reported MG-ADL scale show poor correlation with spirometry results.

In patients with generalized #MyastheniaGravis (MG), respiratory symptoms assessed using the patient-reported Myasthenia Gravis Activities of Daily Living (MG-ADL) scale show poor correlation with objective spirometry measures.

Learn more: https://bit.ly/4bS0QJ4

#RareDisease #MedSky

Recommendations for Expanding Regulatory Agility and Evidentiary Integrity in Developing Treatments for Rare Diseases Reagan-Udall Foundation for the FDA, independent 501(c)(3) organization created by Congress to advance the mission of the Food and Drug Administration.

ICYMI: “Recommendations for Expanding Regulatory Agility and Evidentiary Integrity in Developing Treatments for Rare Diseases” report from the Reagan‑Udall Foundation for the FDA.

reaganudall.org/publications...

#Regulatory #RareDisease

Listen, I'm not saying I will let my chronic illness beat me. Im just saying if I were a horse, I would have been put down years ago.

Just sayin 🤷‍♀️😅😉

linktr.ee/thezebraalliance
#chronicillness #raredisease #EDS #ehlersdanlossyndrome #invisibleillness #disability #dynamicdisability #mentalhealth #healthmeme #memes #jokes

📄 New research in JND:

The phase 3 REACH trial evaluated losmapimod in FSHD

While the study did not meet its primary endpoint, losmapimod was well tolerated, with insights that may guide future trials. buff.ly/vVwusOF

#FSHD #ClinicalTrials #Neuromuscular #RareDisease

Learn more about clinical trials for rare disease patients in the images in this thread, and on our website at: scge.mcw.edu/patient-care... (3/3)

#PatientEducation #RareDisease #ClinicalTrial

Learn more about clinical trials for rare disease patients in the images in this thread, and on our website at: scge.mcw.edu/patient-care... (2/3)

#PatientEducation #RareDisease #ClinicalTrial

Learn more about clinical trials for rare disease patients in the images in this thread, and on our website at: scge.mcw.edu/patient-care... (1/3)

#PatientEducation #RareDisease #ClinicalTrial

Trametinib Causes Reversible Cardiotoxicity in Almost One-Quarter of Exposed Adults With NF1 In the TRAIN trial, 23% of adults with NF1 taking trametinib developed cardiac dysfunction, although it was mostly moderate and reversible.

#Cancer therapy-related cardiac dysfunction (#CTRCD) appeared in 23% of neurofibromatosis type 1 (#NF1) patients receiving #Trametinib monotherapy in the phase 2 TRAIN trial.

Read more: https://bit.ly/4lSnxS2

#RareDisease #MedSky

Learn MG Types Today: https://bit.ly/4s1mWPI

#MyastheniaGravis #MGTypes #RareDisease #MyastheniaGravisNews #Bionews

New finding from FranMartinezGr on Twitter/X! ift.tt/z6B3mDS

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene t.co/3zirKCEz9A

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder #RareDisease #Genetics #morbidgene www.cell.com/ajhg/fulltex...

Enzyme replacement therapt (ERT) is one of the most direct and obvious ways to treat GM1. If you are in a position to donate, help or connect us with those who can, please reach out. Your help truly can make a difference.

LEARN MORE: curegm1.org/ert-project

#curegm1 #raredisease #charity #give

Leave a 😂 in the comments if you laugh in the face of pain because crying is exhausting. #RareDisease

Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a rare inherited brain disorder causing iron buildup in the basal ganglia, leading to progressive loss of movement, speech, & cognition

Learn more: nbiadisorders.org

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