explore | Grilled Cheese

Dowling-Degos Disease is a rare genetic skin disorder causing progressive dark, net-like patches in body folds, driven by mutations that disrupt normal melanosome trafficking.

Learn more: https://dub.sh/UpsAjsU

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

Gene-specific machine learning model EpiPred identifies likely pathogenic variants in the epilepsy-related gene STXBP1 #RareDisease #Genetics www.jci.org/articles/vie...

Breathing shouldn't be a fight you can't win.

A major new approval just expanded treatment options for the most severe form of pulmonary arterial hypertension. Watch how it works 👇

#RareDisease #PAH #MedicalBreakthrough

Building routines creates structure and predictability. What morning ritual helps you start your day? #RareDisease

Explore the details: https://bit.ly/4rkS8ui

Ultomiris may reduce fatigue and improve quality of life in older adults with generalized myasthenia gravis, according to a small study.

#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews

"False hope" is a bold take for a drug with a 90% real world continuation rate and a confirmatory study fully enrolled since 2023. C'mon. Let the data answer the clinical benefit question before the headlines write the verdict #RareDisease #DMD #AcceleratedApproval #LetTheScienceLead

We're delighted to have contributed to the Future for Rare Summit in London.

As the UK Rare Diseases Framework approaches its conclusion, it was an important opportunity to help shape what comes next for the rare disease community.

#RareDisease #RareDiseaseFramework

Apparently discussing and bring awareness to disability and or chronic illness makes you a “sickfluencer” and apparently it’s “popular”…with this new audience I now have let me tell you the “fun facts” about Myasthenia Gravis. 1

#chronicillnessawareness #disabilityawareness
#raredisease

Discover more: https://bit.ly/4dCMzS7

Columnist Sarah Bendiff plans to pay more attention to her body after adapting to living with MG left her feeling disconnected from it.

#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews

When “How are you feeling?” is always a complicated question. 😅

Living with a chronic illness? Or caring for someone who is? Connect with others who get it in our forums 💙 https://bit.ly/4h0ekF6

#RareDisease #RareDiseaseCommunity #ChronicIllness #Disability #Bionews

Explore the details: https://bit.ly/471w4LN

Keynote speaker Mindy Henderson redefines "impossible" ahead of MDA Engage: Chicago, taking place Sept. 25-26 at the Westin Chicago Lombard.

#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews

Do you live with Marfan Syndrome? If so, what do you wish people knew about Marfan?

#marfansyndrome #connectivetissue #raredisease #chronicillness #chronicpain linktr.ee/thezebraalliance

EVERY doctor should know this: Share it far and wide 👌😀

linktr.ee/thezebraalliance (found this comment on a FB post) #EDS #ehlersdanlossyndrome #HSD #hypermobilityspectrumdisorder #connectivetissue #raredisease #chronicillness #chronicpain #disability

We also have resources to share the Rare Research Launchpad with future #RareDisease researchers in your network! If you're a faculty member, or simply know someone who could benefit, download our tools to help spread the word: learn.rarediseases.org/courses/rare...

You may unlock someone's future!

Andersen-Tawil Syndrome (ATS) combines episodic muscle paralysis, dangerous heart arrhythmias, and distinctive facial features, caused mainly by mutations in the KCNJ2 potassium channel gene.

Learn more: https://dub.sh/ATS1

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

Leukoencephalopathy with calcifications and cysts (LCC) is a rare ribosomopathy caused by biallelic SNORD118 variants, with no established treatment.

#genomics #ClinicalGenetics #RareDisease