@thethrivingspoonie.comParental Anxiety is almost inevitable when your child has a #raredisease — but it can quietly shape how safe your child feels in their own body. This guest post on Life's a Polyp offers practical, realistic tools for noticing and managing that anxiety.
@buttahflyk.bsky.socialUpdated for October!
There's always something happening for the #ChronicIllness community. Here, you'll find info about upcoming #webinars, ongoing series, #support groups, and more.
🦋
floatlikeabuttahfly.blogspot.com/p/whats-happ...
#arthritis #disability #RareDisease #sarcoidosis #SpoonieSky
@rarectadvocate.comPeutz-Jeghers Syndrome is a rare inherited condition causing gastrointestinal polyps, distinctive dark spots around the mouth, and a lifetime cancer risk of roughly 83 percent by age 70.
Learn more: https://dub.sh/peutz
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@pharmaphorum.bsky.socialPatients in #England and #Wales with #raredisease #familialchylomicronaemiasyndrome (FCS) will soon have a new treatment option, after #Sobi's #Tryngolza was recommended for #NHS use by #NICE.
@gamuts.netHypertelorism - hypospadias - polysyndactyly syndrome: Imaging findings https://gamuts.net/x/34364 #radiology #RareDisease #FOAMed
@oxfordharrington.bsky.socialDelighted to join the MRC CoRE – Therapeutic Genomics annual meeting🧬
A highlight was hearing from people living with rare diseases about their experiences of diagnosis and clinical trials.
@ancan501c3.bsky.socialMEN SPEAKING FREELY: Open to ALL conditions. We don’t discuss medicine, treatments, etc – instead, all the other things you have to deal with living with your situation.
1st & 3rd Thursdays 8pm ET
https://www.gotomeet.me/AnswerCancer
@imm.ox.ac.uk🧪 #MRCWIMM researchers combine patient derived stem cells and genomic analysis to investigate how rare genetic changes cause craniosynostosis, helping improve interpretation of complex genetic variants. 👇
#Genetics #RareDisease @rdm.ox.ac.uk @medsci.ox.ac.uk #AcademicSky
@gene2phenotype.bsky.social'EHMT2-related Kleefstra syndrome' added to DDG2P. Monoallelic dominant negative variants in EHMT2 cause a disorder characterised by global developmental delay, facial dysmorphism, cardiovascular anomalies, and hypotonia. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
@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
@mgnews.bsky.socialGet the scoop: https://bit.ly/3Ttxdsz
Trying to get an Ultomiris infusion reminds columnist Mark Harrington how navigating MG can leave him feeling stressed out and worn down.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@mgnews.bsky.socialTake a closer look: https://bit.ly/4yhNP5A
The experimental CAR T-cell therapy miv-cel led to sustained disease control for people with generalized myasthenia gravis in a recent trial.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@jjunebrown.bsky.social🧬 PKU Beyond the Diet: Food, Mental Health + Daily Life - interview for #NewbornScreeningAwareness month is up, with @dnatodaypodcast.bsky.social @kiradineen.bsky.social @lillianisabella.com + me. Lived experience, advocacy + a hopeful future. dnapodcast.com/episodes/202... #Raredisease #Momsky
@rarectadvocate.comIdiopathic Subglottic Stenosis (iSGS) is a rare airway disease in which unexplained scarring narrows the windpipe below the vocal cords, mostly in women. It is often mistaken for asthma.
Learn more: https://dub.sh/SGS1
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netDiencephalic syndrome https://gamuts.net/x/6731 #RareDisease #MedEd #FOAMrad
📢 Call for Papers
I’m pleased to be Guest Editor for a Special Issue in Cells on:
Cellular & Molecular Mechanisms Behind Liver Inherited Metabolic Diseases and Novel Therapeutic Strategies
Original research & reviews welcome.
📅 14 May 2027
#RareDisease #Metabolism
@franmartinezgr.bsky.socialMaveMD: a functional data resource for genomic medicine #RareDisease #Genetics link.springer.com/article/10.1...
@erneurogen.bsky.social#EUfunded #RareDisease #ERNs #PedUro #SoMe4PedSurg @ec.europa.eu @jardinjointaction.bsky.social @espu.bsky.social
@ehc-news.bsky.socialThis is part of our #VWD100 campaign, marking 100 years of #VonWillebrandDisease throughout 2026. Each month, we shine a light on a different aspect of #VWD.
#beVWDaware #VWDunited #VWDtogether #BleedingDisorders #RareDisease
