👏 From childhood curiosity to career achievement Jennifer R. Brown, MD, PhD, Director of the CLL Center at @danafarber.bsky.social has dedicated her life to understanding and advancing treatment for #ChronicLymphocyticLeukemia (CLL). @societyofhemonc.bsky.social#ChronicLymphocyticLeukemia Read more: https://bit.ly/476wgcs

Shaare Zedek’s Gaucher unit is the largest of its kind in the world and treats patients of both Israeli and Palestinian-Arab backgrounds. Read the full feature here➡️: https://bit.ly/3KNdPBX #RareDisease #GaucherDisease #MedSky #RareSky

The median amplitude of the pollicis brevis compound muscle action potential is sensitive enough to capture the response to treatment in patients with #SpinalMuscularAtrophy (SMA). Study in Muscle and Nerve Read more: https://bit.ly/4oeLrHA #RareDisease #MedSky #RareSky

#LiverTransplantation and treatment with disease-modifying therapies significantly improve survival in patients with hereditary variant transthyretin amyloidosis, which can lead to cardiomyopathy (#ATTRCM) and polyneuropathy (#ATTRPN). @jinternmed.bsky.social#LiverTransplantation#ATTRCM#ATTRPNRead more: https://bit.ly/48j6jZt

🌍 On 9/30, we joined @nordrare.bsky.social #RareCancerDay in DC—bringing together patients, advocates & researchers to spotlight the 1 in 4 living with rare cancer. Stories of resilience, hope & advocacy were shared. Read more➡️: bit.ly/4mVjpzF #RareDisease #RareCancer

An elderly man with no prior history of #BleedingDisorders experienced recurrent #AcuteSubduralHematoma (ASDH) following a mild head trauma and was diagnosed with mild congenital #Hemophilia A. Case report in @cureusmedical.bsky.social#BleedingDisorders#AcuteSubduralHematoma#Hemophiliaead more: https://bit.ly/4mUpZGD #RareDisease #MedSky

A team of researchers from the US and Korea developed a TGF-β-#TPMO that could be beneficial in Duchenne muscular dystrophy (#DMD) when used in combination with #DPMO. @moltherapy.bsky.social#TPMO#DMD#DPMORead more: https://bit.ly/4gV0LX8 #RareDisease #DuchenneMuscularDystrophy #MedSky

#FabryDisease is severe and causes considerable burden in female patients, according to a study that appeared in the Journal of Medical Genetics. The study also showed that #Migalastat is efficient in the long term in these patients. Learn more: https://bit.ly/3KB4ahQ #RareDisease #MedSky #RareSky

Bruton tyrosine kinase inhibitors (#BTKis) appeared to offset the adverse prognostic impact of #NOTCH1 mutations in chronic lymphocytic leukemia (#CLL). Study in European Journal of Haematology. Read more: https://bit.ly/4gTTqam #RareDisease #Leukemia #Hematology #Oncology #OncSky #RareSky

Elevated #Leukocyte, #Monocyte and #Eosinophil counts are adverse prognostic indicators in advanced #SystemicMastocytosis, correlating with additional mutations, specific disease subtypes and shorter overall survival. @jacionline.bsky.social#Leukocyte#Monocyte#Eosinophil#SystemicMastocytosisad more: https://bit.ly/48eJtSO #RareSky #MedSky

Crossbow Therapeutics announced dosing of the first participant in the phase 1 CROSSCHECK-001 #ClinicalTrial of CBX-250 for #MyeloidMalignancies, including #MyelodysplasticSyndromes (MDS). Read more: https://bit.ly/3WmgS6C #RareDisease #CROSSCHECK001 #CBX250 #MDS #MedSky

#CS1, an oral histone deacetylase inhibitor developed by #CerenoScientific, has received #FastTrack designation from the @fda.gov for the treatment of pulmonary arterial hypertension (#PAH), the company announced. Read more: https://bit.ly/3KORNyB #RareDisease #Pulmonology #MedSky #RareSky

🍂 Medical Ultrasound Awareness Month (MUAM), observed each October, recognizes the importance of #Sonography and the professionals who perform it. This year, we’re highlighting its unique impact on the #RareDisease community. #Ultrasound #MedSky

💜 Today is Limb Girdle Muscular Dystrophy (LGMD) Awareness Day We’re sharing 5 self-care tips from columnist Jakira Avery, who lives with #LGMD and knows firsthand the challenge of managing limited energy. 📖Read more: https://bit.ly/4nurkF2 #RareDisease #MuscularDystrophy #RareSky #MedSky

Jaimie Sheil, #CIDP Contributor, discusses the difficult symptoms associated with the diagnosis and how she never expected 'itching' to be one of the most painful. Read the full column ➡️: https://bit.ly/4pPxrpc #RareDisease #CIDP #PatientPerspective #MedSky

#Luspatercept was effective and well-tolerated for management of #Anemia in transfusion-dependent lower-risk #MyelodysplasticSyndromes (LR-MDS), with the strongest responses observed in patients who were RS⁺ or had a low transfusion burden @bloodadvances.bsky.social#Luspatercept#Anemia#MyelodysplasticSyndromesRead: https://bit.ly/46HlokT

#Patisiran treatment showed consistent positive effect across several endpoints, including #Polyneuropathy manifestations in patients with a #V122I or #T60A variant in the #TTR gene, in a multicenter phase 4 #ClinicalTrial Read more: https://bit.ly/48CO8hm #RareDisease #ATTRPN #MedSky

🔬 What is Friedreich Ataxia? This rare genetic disorder affects movement, coordination, and daily life. On #InternationalAtaxiaAwarenessDay, let’s raise understanding and support research. 📚 Learn more: https://bit.ly/4lQM0pk #RareDisease #Neurology #FriedreichAtaxia #NeuroSky #RareSky #MedSky

New research into prenatally diagnosed intracranial hemorrhage (#ICH) presented at the 2025 @isuog.bsky.social World Congress revealed fetal and neonatal alloimmune thrombocytopenia (#FNAIT) as one of the identifiable causes. Read more: https://bit.ly/42EEDue #RareSky #MedSky

The extracellular volume derived from cardiac #MRI is highly accurate in identifying patients with transthyretin-mediated amyloid cardiomyopathy (#ATTRCM) who have negative technetium-99m-pyrophosphate (Tc-PyP) scans. @jaccjournals.bsky.social Read more: https://bit.ly/47SHof0 #MedSky #RareSky

Kristy Coleman, ITP Contributor, discusses the challenges posed by insurance companies denying coverage and the importance of advocating for yourself. Read more here: https://bit.ly/3VwdTs4 #RareDisease #ITP #PatientPerspective #MedSky #RareSky

🫁 “When you live with Pompe disease, the word strength takes on a whole new meaning." — Bruce Campbell, Pompe Contributor 📖 Read more: https://bit.ly/46spRaX #PompeDisease #RareDisease #PatientStories

🎙️Rare Care: The Rare Disease Advisor Podcast Larry Luxner, interviews neurologist Michio Hirano, MD, of @columbiauniversity.bsky.social about an investigative therapy that shows promise in treating #TK2d, an #UltrarareDisease 🎧 Listen to the full podcast here: https://bit.ly/4pfywX7 #RareDisease

🎈 Families facing #DMD show incredible resilience — but gaps in specialized care remain. Contributor Sarka Palouckova shares her journey advocating for her grandson William’s well-being. Read more: https://bit.ly/4m6kEM5 #RareDisease #DuchenneMuscularDystrophy #Caregiver #RareSky

Philadelphia @pennmedicine.bsky.social has been added as a site for the #FREESIA3 trial investigating #Nipocalimab vs intravenous immunoglobulin (#IVIG) in pregnancies at risk of fetal and neonatal alloimmune thrombocytopenia (#FNAIT). Read more: https://bit.ly/4mZjRhb #RareSky #MedSky

Circulating leukocyte mitochondrial oxidative stress may be a protective prognostic factor in #HepatocellularCarcinoma, with higher mitochondrial superoxide levels independently associated with improved survival. Read more: https://bit.ly/4m3KwIr #HCC #RareDisease #RareSky #MedSky

🎈 Today is World Duchenne Awareness Day Together, let’s educate, support, and drive progress for the #DMD community. 📚 Access our full DMD Resource Page here: https://bit.ly/4lPrPrP #WorldDuchenneAwarenessDay #RareDisease #RareSky #MedSky

📰 Stefanie Shea-Akers, #MyastheniaGravis Contributor, shares how she manages to cope with #PriorAuthHell 📖 Read more: https://bit.ly/4paYmvq #MG #PatientVoices #RareDisease #RareSky #MedSky

💉 Living with #CIDP isn’t just fatigue - it’s something far more complex. Jaimie Sheil shares what recovery from #CIDP infusions really feels like. 📖 Read more: https://bit.ly/47Wxp8k #RareDisease #PatientVoices #ChronicIllness #RareSky #MedSky

Monotherapy with #Tagraxofusp is well-tolerated and has a manageable and predictable safety profile in patients with #Myelofibrosis (MF), according to results from a phase 1/2 #ClinicalTrial published in the ‪@bloodneoplasia.bsky.social#Tagraxofusp#Myelofibrosis#ClinicalTrialRead here: https://bit.ly/4n5DLqq #RareSky #MedSky

Genetic testing remains the gold standard for diagnosing #SpinalMuscularAtrophy (SMA), according to a narrative review published in the Journal of Neurology. Read more: https://bit.ly/47qA8a0 #SMA #SMN2Gene #RareSky #MedSky

🩸 September is National Sickle Cell Awareness Month Sickle Cell Disease affects lives every day. Awareness is key. 📄 Discover 5 quick facts to educate and empower clinicians, patients, and advocates. Learn more: https://bit.ly/4fY90l1 #SickleCellDisease #RareDisease #Hematology #RareSky #MedSky

🌀 Are you MS disaster-ready? Evacuating, finding care, and staying safe during an emergency takes planning. Ed Tobias shares tips for MS emergency preparedness. 📖 Read more: https://bit.ly/3I4m23J #MultipleSclerosis #MSCommunity #EmergencyPlanning #MSAwareness #RareSky

#OpticalGenomeMapping enhanced cytogenetic assessment in approximately one-quarter of patients with #MyelodysplasticSyndromes and changed disease classification or risk categorization in nearly 10% of newly diagnosed cases. Study in @modernpathology.bsky.social#OpticalGenomeMapping#MyelodysplasticSyndromesLearn more: https://bit.ly/4geclML

👏 Honoring 53 years of impact: Dr. Robert Montgomery received the 2025 Harold R. Roberts Award from @isth.org‬ for his decades of service in #Hematology and #Thrombosis research. 📖 Full story: https://bit.ly/3Hw3Rnt #Hemophilia #MedSky #VWD #BloodDisorders

Rare Disease Advisor is in Boston, MA for #WorldOrphanUSA. Follow along for live updates, expert interviews, and our first-ever #RareAdvocacy session! #RDAatWODC

An atmosphere of grave concern is gripping the #RareDiseaseCommunity as massive budget cuts & layoffs at the NIH endanger tens of millions of dollars in grants to study everything from Duchenne muscular dystrophy to idiopathic pulmonary fibrosis @mda.org 🧪♿ www.rarediseaseadvisor.com/features/nih...

Adjunctive cannabidiol appears to be a viable and cost-effective alternative to usual Lennox Gastaut syndrome care, as per a study in BMC Medicine. CBD has been shown to decrease seizure frequency. Read more: bit.ly/3YbmsKq #MedNews

Rare Disease Advisor: Hope and Struggle With Duchenne Muscular Dystrophy @rarediseaseadvisor.bsky.social www.rarediseaseadvisor.com/patient-colu...

Patients with #MultipleSclerosis have altered lipid levels compared with healthy individuals, according to results published in the Multiple Sclerosis Journal. Read more: bit.ly/41TrVrK #MedNews

We’re gearing up for #WorldOrphanUSA 2025, where the brightest minds in rare disease and orphan drug development come together. Join us there and explore how we are making an impact. We have free tickets to share—attend as our guest! Register now: i.snoball.it/p/hAYE/t/3

#MDAConference: "It's important that we're empowering our patients through education and self-management strategies." -Constance de Monts, PT, DPT Neuromuscular Clinical Research Manager/Evaluator at @stanfordmedicine.bsky.social. @mda.org #RDAatMDA

#MDAConference: Study participants w/ Duchenne muscular dystrophy treated with the investigative cell therapy #deramiocel showed a decreased annual decline in upper limb function over a 5-year period that included a 12-month gap period with no treatment Read more: bit.ly/3XXGU1e @mda.org #RDAatMDA

#MDAConference: Boys with Duchenne muscular dystrophy treated with #givinostat and steroids had less decline in respiratory function after losing ambulation than those treated with steroids alone. Read more: bit.ly/3FEOFTK #RDAatMDA @mda.org

Jennifer Goldstein is a specialist in Duchenne muscular dystrophy at the University of Rochester Medical Center’s Center for Health + Technology. @mda.org #RDAatMDA #MDAConference

#MDAConference: We spoke with Chris Lewis, son of world-famous comedian Jerry Lewis, who through his annual telethons helped raise $2.5 billion for @mda.org #RDAatMDA

#MDAConference: "Really the relative risk versus benefits in older DMD patients with preexisting cardiomyopathy or history of heart failure is currently unknown." -Beth Kaufman, MD, Director, Pediatric Cardiomyopathy Program at Stanford Medicine Children's Health #RDAatMDA @mda.org

#MDAConference #RareDisease #RDAatMDA @mda.org

#mdaconference: “Medicine as a business is winning out right now over medicine as a profession—not just doctors but all the clinicians involved in multidisciplinary care … I hope I’m wrong.” - Former FDA Commissioner Robert M. Califf #RDAatMDA @mda.org

#MDAConference: Katherine Mathews, MD, director of the Iowa Neuromuscular Program wins the 2025 MDA Legacy Award for her contributions to the understanding and treatment of #GeneticDisorders affecting the neuromuscular system. @mda.org #RDAatMDA #RareDisease