Why early treatment is important: https://bit.ly/4aE7bHq

#MyastheniaGravis #ChronicIllness #RareDisease #MyastheniaGravisNews #Bionews

Join us on June 27 for a PacBio 5K supporting iHope and Genetic Alliance. Many families wait years for a diagnosis, and your participation helps provide life-changing answers.

Register to join us for a meaningful morning: bit.ly/4mh0yQV

#SeqItForward5K #PacBio #RareDisease

Let’s discuss it together: https://bit.ly/3JNDbQ2

#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease

RBC Transfusions Linked to Brain Injury in Preterm Infants New research shows RBC transfusions are independently associated with brain injury in preterm infants, with risk increasing with each transfusion.

Red blood cell transfusions are dose-dependently associated with a higher risk of periventricular leukomalacia and retinopathy of prematurity.

Read here: https://bit.ly/4cd1oJV

#RareDisease #FNAIT #Ophthalmology #MedSky

The NMD4C’s April 2026 newsletter is now available with the latest updates from across Canada’s neuromuscular community! 🔗 | Read this month’s edition

The NMD4C’s April 2026 newsletter is now available with the latest updates from across Canada’s neuromuscular community!
🔗 | Read this month’s edition: neuromuscularnetwork.ca/april-2026-n...

Connecting experts. Advancing research. Improving care.

#NMD4C #Neuromuscular #NMD #Canada #RareDisease

New Coverage: $BDRX. Clinical-stage GI oncology platform with a first-in-class GIST program and a registrational Phase 3 trial for FAP. Zacks SCR initiates at $7.00. Watch: youtu.be/QpfenwqQi8k #biotech #raredisease #smallcap

Pyramidal Signs May Predict Time to Motor Onset in Huntington Disease Pyramidal signs are an early clinical feature in Huntington disease (HD) that may indicate proximity to disease onset.

Pyramidal signs appear more than a decade before motor onset in #HuntingtonDisease (HD) and may be an early clinical indicator of proximity to disease manifestation. Study in @cp-med.bsky.social

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

#RareDisease #MedSky

New finding from FranMartinezGr on Twitter/X! ift.tt/2Xgn9B7

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics #RareDisease #Genetics #morbidgene t.co/ndvATzUk7t

In this commentary, SCGE researchers explore αβ T cell-derived engineering strategies applicable to γδ T cells, while also highlighting genome-editing innovations poised to advance next-generation γδ CAR-T development.
jitc.bmj.com/content/13/1...

#RareDisease #GeneTherapy #Engineering

A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics #RareDisease #Genetics #morbidgene www.nature.com/articles/s41...

The April 2026 Cure GM1 Catalyst is out. Don't miss important highlights and progress in research, advocacy, and community efforts to advance treatments.

Engage, be informed, and share:

tinyurl.com/54navx8b

#curegm1 #raredisease #charity #hope #community

News News about the National Urea Cycle Disorders Foundation

Read the story of a family's fight for a #rareDisease treatment and the role Baylor College of Medicine researchers played setting the foundation for developing the novel therapy. @bcmhouston.bsky.social @bcmgenetics.bsky.social nucdf.org/news.html/ar...

Neurocrine to Buy Soleno for $2.9 Billion, Picks Up Prader‑Willi Drug VYKAT XR Neurocrine will acquire Soleno for $2.9B to add VYKAT XR, the newly approved Prader‑Willi hyperphagia drug, aiming to expand its rare‑disease portfolio.

Neurocrine to Buy Soleno for $2.9 Billion, Picks Up Prader‑Willi Drug VYKAT XR

#biotech #m&a #raredisease

Confluent & Reticulated Papillomatosis (CARP) is a rare skin disorder causing a striking net-like pattern of brown, scaly plaques on the trunk & neck of teens & young adults.

Learn more: https://dub.sh/1CARP

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

World Orphan Drug Congress USA 2026 | Boston World Orphan Drug Congress USA is the globally leading event for advancing orphan drug development, market access, and rare disease patient care.

Join the World Orphan Drug Congress USA 2026! Connect with leaders, regulators, and patient advocates to advance rare disease therapies, clinical trials, and patient access strategies from June 9–11 in Boston.

For more info: buff.ly/qjKvjPO

#MedSky #OrphanDrugs #RareDisease #PatientAdvocacy

Biemond syndrome type 2 https://gamuts.net/x/26289 #RareDisease #MedEd #FOAMrad

Harlequin Ichthyosis: A Comprehensive Review of Pathogenesis, Diagnosis, and Management Harlequin ichthyosis, one of the rarest and most severe skin disorders, is mainly characterized by extreme hyperkeratosis, severely impairing the natural barrier function of the skin. This congenital disease results from a mutation in the ABCA12 gene responsible for lipid transport, whereby healthy skin development is assured. Harlequin ichthyosis is an autosomal recessive condition that requires parents to carry a defective gene copy for the disorder to manifest in their offspring. Babies born with Harlequin ichthyosis have thick skin plates that crack and flake off; they easily become dehydrated, infected, and may suffer from respiratory complications. With new improvements in neonatal care and systemic therapy, notably retinoid therapy, infants’ survival rates have improved. This review provides an inclusive overview of the pathophysiology, clinical features, diagnostic methods, management, and potential future therapies for Harlequin ichthyosis. In addition, a discussion on genetic counseling and its importance in managing family risk factors is also included, as well as a look into cutting-edge research focused on gene therapy and potential curative treatments.

🩺 Survival in harlequin ichthyosis has improved with better neonatal care and retinoids, while gene-based therapies loom on the horizon. @nejm.org
#RareDisease
🔗 www.xiahepublishing.com/2572-5505/JE...

🚀 Want to lead the way in #RareDisease research?
Subscribe to #ERDERA’s newsletter! 📩
✅ Big news first
✅ Expert tips & tools
✅ Breakthroughs that matter
✅ Community highlights
Subscribe at 👉 https://loom.ly/NxMGydc

🧵 1/4 Living with #ADPKD? Take the survey and use your voice to shape the future of ADPKD research. 📣
survey.uni-koeln.de/index.php/31...

🪡 Read this thread 👇

#PKD #PatientVoice #OpenScience #RareDisease #KidneyHealth #HorizonEurope #European #Research

GSD IV isn’t just a paediatric disease.

This study estimates:
• 1 in 243 carriers
• ~34,800 affected globally

👉 A single GBE1-related spectrum
→ early-onset ↔ adult APBD

Likely underdiagnosed.

📄 onlinelibrary.wiley.com/doi/10.1002/...

#RareDisease #Genetics

CSF diagnostics, simplified.

A multimodal LC–MS/MS panel enables:
• Broad metabolite coverage
• Less CSF (250 μL)
• Faster analysis (~65 min)

Now implemented in routine diagnostics.

📄 doi.org/10.1002/jimd...

#RareDisease #Metabolomics #Neurology

Recognize SMA symptoms early and support others on the same journey: https://bit.ly/3UogDan

#SMA #SpinalMuscularAtrophy #SMANewsToday #Bionews #RareDisease

Scholarship opportunity #RAREis
#raredisease
👇🏻

Antiphospholipid Syndrome Emergency — Ovarian Cyst Ruptures. www . a chronic voice .com (A stethoscope has been laid flat in the shape of the pelvis, and joins with a paper cut-out of a pink uterus. Flowers and a menstrual cup are scattered everywhere.)

"It can be tricky to perform #surgery on a patient with #AntiphospholipidSyndrome, as I had the potential to clot whilst still #bleeding. That can quite literally, make a bloody mess of things.": buff.ly/YPGzS6U

#MondayBlogs #BloodClots #ChronicIllness #RareDisease #EmergencyDepartment #NEisVoid

Pharma companies and patient groups seek to exempt orphan drugs from Colorado pricing limits A bill is moving through the Colorado legislature that would exempt orphan drugs from pricing caps that might be pursued by the state.

Pharma companies and patient groups seek to exempt orphan drugs from Colorado pricing limits.. statnews.com/pharmalot/20... #pharma #biotech #orphan #raredisease #Colorado #affordability #medicines

Weigh in with yours: https://bit.ly/4p0s853

#MyastheniaGravis #MyastheniaGravisNews #Bionews #MGWarrior #ChronicIllness #RareDisease

Join us for our April Community Chat with host Dr. Alison Bertuch, topic Telomere Biology Disorder Genetics & Subtypes!

Register now! Tuesday, April 14, 2026 at 7:00 PM ET
Link: teamtelomere.org/resources/co...

#TBD #Telomere #CommunityChats #Genetics #RareDisease #DyskeratosisCongenita

Young Caregivers of Parents With Huntington Disease Face Compounded Burdens Adolescents and young adults who care for parents with HD experience disrupted development compounded by awareness of their own risk.

Young caregivers supporting parents with #HuntingtonDisease (HD) experience significant and wide-ranging challenges compounded by concern about the disease’s hereditary nature. Findings Disability and Rehabilitation.

Learn more: https://bit.ly/4sj47r5

#RareDisease #MedSky

Insomnia and MG: https://bit.ly/46hwiP0

😴 Trouble sleeping with MG? 

#MyastheniaGravis #MyastheniaGravisAwareness #ChronicIllness #InvisibleIllness #RareDisease #MGStrong #MyastheniaGravisNews #Bionews

Discover 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