This study describes the diagnostic strategies of the second cohort of the US Undiagnosed Diseases Network (UDN, 24 May 2017 – 30 June 2023).
@genox-veille.fr
@genox-veille.frThis study describes the diagnostic strategies of the second cohort of the US Undiagnosed Diseases Network (UDN, 24 May 2017 – 30 June 2023).
@alsnewstoday.bsky.socialPurpose isn’t found, but rather revealed through the life we live
#RareDisease
@franmartinezgr.bsky.socialIn vivo dissection of human NRXN1 isoforms reveals gain-of-function pathogenicity of schizophrenia-associated 3′ deletions #RareDisease #Genetics academic.oup.com/hmg/article/...
@mgnews.bsky.socialThere is beauty in your perseverance even when times are tough. 🌼 #RareDisease
@rarectadvocate.comGlycogen Storage Disease Type IV (Andersen Disease) is a rare metabolic disorder causing glycogen buildup in the liver, muscle, and heart, often leading to cirrhosis in infancy.
Learn more: https://agsdus.org/
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netMenetrier disease: Imaging findings https://gamuts.net/x/345 #radiology #RareDisease #FOAMed
@angioedemanews.bsky.socialDiscover how to navigate intimacy and angioedema: https://bit.ly/43DYuLc
Your condition doesn’t define your worth—take charge of your sexual and emotional well-being, one step at a time.
#Angioedema #SexualHealth #ChronicIllness #PatientSupport #RareDisease #AngioedemaNews #Bionews
@swhr.bsky.socialSeptember is #SickleCellAwarenessMonth. #SickleCellDisease is a #RareDisease impacting 100K people in the US. Read SWHR’s blog to learn about rare disease research and hear working group member Maia Lang share her experience with sickle cell disease: https://ow.ly/g41V50ZOuzn. #SWHRtalksRareDisease
@dailybaltic.comFamily seeks 240,000 euros to slow rare disease in Latvian girl #healthcare #latvia #raredisease
@usherireland.orgOn Usher Syndrome Awareness Day we are sharing some of the realities of living with Usher syndrome from people who know it first-hand. We want to remind you we are here to listen, help, cheer & support you and your family every step of the way. 💚
@rarectadvocate.comFanconi Anemia is a rare inherited DNA-repair disorder causing progressive bone marrow failure and a sharply increased risk of leukemia and solid tumors, from mutations in at least 22 genes.
Learn more: https://fanconi.org
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@aspenbrave.bsky.social#BraveWrite #vss365 #Poetry
#RareDisease #tanka
allowing myself grace
to grieve what my illness took
where did my dreams go
somewhere between surviving
so much of me died
I let myself hope
yesterday for my old self
nothing to #marvel
everything has a price
even miracles
👇
youtu.be/pKrxD1hZb5E?si…
@gamuts.net#RareDisease: Hypochondrogenesis https://gamuts.net/x/12508 #radiology #FOAMed #FOAMrad
@achronicvoice.com" #AspirationPneumonia can also happen especially when a person is asleep, where regurgitated food gets inhaled into the #lungs & becomes #infected. Apart from #gastric content, the..fluid can also consist of oropharyngeal secretions & particulate matter.": buff.ly/Qme4vEw
@zebrabande.bsky.socialUnd ich hoffe sooo sehr,
Dass sich zu diesen Momenten noch ganz viele weitere gesellen werden.
Und morgen werden der #punktehund und ich nochmal eine große portion sammeln.
Gemeinsam mit einen hundekumpel und einer freundin 😀
#EhlersDanlosSyndrom #rareDisease #selteneErkrankung #SFN #MCAS #dis
@mgnews.bsky.socialBe part of this conversation: https://bit.ly/4oSkfhU
#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease #InvisibleIllness
@erneurogen.bsky.social🔎 Could ultrasound reduce the need for radiation when monitoring bowel management? Join our webinar on clinician USS in children with colorectal conditions.
📅 23 Sept | 18:00–19:00 CEST
@mgnews.bsky.socialFatigue and brain fog can shape daily life with generalized myasthenia gravis in ways muscle-strength tests may not fully capture: https://bit.ly/3TDf3EE
#MyastheniaGravis #MGResearch #RareDisease #MyastheniaGravisNews #Bionews
@angioedemanews.bsky.socialGet the scoop: https://bit.ly/4y1EzlQ
In a late-stage trial, a once-daily preventive treatment for hereditary angioedema cut the frequency of swelling attacks by more than 80%.