#AIHA is highly prevalent in patients with #SLE, and some studies report poorer outcomes in patients with both conditions. Taken together, these findings underscore the importance of early detection of SLE-associated AIHA. Read more: https://bit.ly/4c9fgVh #RareDisease #MedSky

Early Autoimmune Signals: The Role of AIHA in Identifying SLE

An autoimmune disease, AIHA is considered one of the most frequent hematologic manifestations of SLE, also an autoimmune condition.

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🎙️ An important conversation on #BeckerMuscularDystrophy Larry Luxner sits down with Abby Bronson, VP of Patient Advocacy at Edgewise Therapeutics, to discuss efforts to raise awareness of #Becker muscular dystrophy as distinct from #Duchenne muscular dystrophy 🎧 Listen here: https://bit.ly/4tBOeNv

An Interview With Abby Bronson of Edgewise Therapeutics About Becker Muscular Dystrophy Awareness

Abby Bronson advocates for those with Becker muscular dystrophy, which can have severe consequences on mobility and quality of life.

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#Rituximab is an effective steroid-sparing strategy for patients with (#IgG4RD) that provides efficacy comparable to that with glucocorticoids even in those individuals with a more severe or relapsing course. Read here: https://bit.ly/4sXz1Gt #RareDisease #MedSky

Rituximab An Effective Steroid-Sparing Strategy in IgG4-Related Disease

Using real-world data, researchers assessed the glucocorticoid-sparing ability of rituximab in adult patients with IgG4-RD and found it was efficacious.

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💛 Our Children’s Strengths Are Real, but PWS Makes Them Harder to See Emily Felt, caregiver to a daughter with #PraderWilliSyndrome, shares insights from a workshop she led on recognizing the unique strengths of children with special needs. Read here: https://bit.ly/48kL0pm

💔 After losing his son, Dr. Matthew Might turned tragedy into innovation. He’s now leading efforts to use AI in precision medicine, aiming to find treatments for rare diseases like #NGLY1Deficiency. Read the full story: https://bit.ly/4vxXEeS #RareDisease #MedTech #AI #MedSky

After Son's Death, Alabama Scientist Leads Push for AI Role in Precision Medicine

Matthew Might, PhD, realized something was wrong with his baby boy, so he pivoted to precision medicine, using AI to try to find a treatment for his child.

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In the setting of genetic susceptibility to #SystemicSclerosis (SSc), autoantibodies trigger vascular damage that prompts the transformation of endothelial cells into fibrosis-driving mesenchymal cells. Study in @ard.eular.org Read more: https://bit.ly/47NppFW #RareDisease #SSc

Antibodies Drive Endothelial-To-Mesenchymal Transition in SSc

In the setting of genetic susceptibility to SSc, antibodies trigger endothelial-to-mesenchymal transition of the vessels, per recent research.

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🧠 How well do you know the #HAE care team? Put your knowledge of #HereditaryAngioedema to the test with this quick quiz and see how your answers stack up against others. 👉 Take the quiz: https://bit.ly/4t2Ncua 💬 Drop your score in the comments! #RareDisease #MedSky #MedicalQuiz

Test Your Knowledge About the Care Team for HAE - Rare Disease Advisor

Test your knowledge about the care team for HAE with this short quiz and see how your responses compare to those of others.

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Peripheral #Frataxin levels predict long-term clinical outcomes in #FriedreichAtaxia (FA), supporting their use as a biomarker of disease severity and progression, as described in BMJ Neurology Open. Learn more: https://bit.ly/4v8A2Nw #RareDisease #Neurology #MedSky

Peripheral Frataxin Levels Predict Long-Term Clinical Outcomes in Friedreich Ataxia

Results of a prognostic modeling study support peripheral frataxin quantification as a surrogate endpoint in clinical trials.

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❓"What is the hardest part about me having ITP?” For Kristy Coleman, #ITP Contributor, the answer from her closest friends and family was the same: fear of the unknown. Read Kristy's column here: https://bit.ly/4sld7Me #RareDisease #RareVoices #ImmuneThrombocytopenia #PatientPerspective

Exon-skipping offers a highly targeted and transformative approach to treating Duchenne muscular dystrophy (#DMD). These therapies work by restoring the reading frame of the DMD gene, enabling #Dystrophin synthesis. Read here: https://bit.ly/4vjwaJK #RareDisease #MedSky

Exon-Skipping in DMD: From Mechanisms to Clinical Practice

In Duchenne muscular dystrophy (DMD), exon-skipping therapy has transformed from an experimental approach to an established treatment.

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Therapeutic ultrasound combined with conventional physiotherapy proved superior to infrared therapy in managing pain, swelling, and joint mobility in patients with #HemophiliaA. Read here: https://bit.ly/3OpYp8Y #RareDisease #MedSky #Hematology #Hemophilia

Ultrasound May Be Superior to Infrared for Hemophilia Joint Relief

Therapeutic ultrasound combined with conventional physiotherapy proved superior to infrared therapy in patients with hemophilia, according to a recent study.

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Given established links between #Sarcopenia and falls, cardiopulmonary disease, and mortality, early identification is clinically relevant. Learn more: https://bit.ly/3QsqwVu #RareDisease #OncSky #MedSky #AcuteLymphoblasticLeukemia

Muscle Weakness Drives Functional Decline in ALL Survivors

Muscle weakness, more than neuropathy, strongly predicted impaired mobility and gait in adult survivors of childhood ALL.

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Results from a phase 1/2a trial showed intravenous human umbilical cord-derived mesenchymal stromal cell (hUC-MSC) therapy may reduce disease activity and neurological impairment in neuromyelitis optica spectrum disorder (#NMOSD). Learn more: https://bit.ly/3PO79Gt #RareDisease #MedSky

Mesenchymal Stromal Cell Therapy Reduces Relapse Rate and Lesion Burden in NMOSD

Intravenous infusion of mesenchymal stromal cells derived from umbilical tissue appears safe, with early evidence of effectiveness in NMOSD.

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For patients with #Acromegaly who have achieved biochemical remission following transsphenoidal surgery, additional routine postoperative imaging provides little added value to patient care. Study in Surgeries Read more: https://bit.ly/47QpokF #RareDisease #TranssphenoidalSurgery

Postoperative Imaging After Biochemical Remission Unnecessary in Acromegaly

The use of annual imaging following transsphenoidal surgery may be unnecessary in patients with acromegaly in biochemical remission.

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Canadian researchers discussed the probable link between primary biliary cholangitis (#PBC) and #Parkinson disease in a recent review published in Current Opinion in Immunology. Learn more: https://bit.ly/47OIveU #RareDisease #PrimaryBiliaryCholangitis #ParkinsonDisease #Immunology

Mitochondrial Autoimmunity Originating in the Liver May Drive Parkinson Disease

Researchers discussed the probable link between primary biliary cholangitis (PBC) and Parkinson disease in a recent review.

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🧭 The @GeneticAlliance is working to end the diagnostic odyssey for rare disease patients CEO, @sharonterry.bsky.social, shares her thoughts on expanding access to genomic medicine through programs like iHope.💛 🔗: https://geneticalliance.org | https://ihopegenetichealth.org #RareDisease #MedSky

iHope: A program of Genetic Alliance 💙 Providing free clinical genomic testing for children suspected of having a rare genetic condition. 🌍 14 countries 🏥 24 clinical sites 🧪 5 leading labs 👧 3,000+ children tested 🔗 Learn more about iHope: https://bit.ly/47MUsSd #iHope #RareDisease #MedSky

🔬 The Genetic Alliance Biobank (GAB) Founded in 2003, GAB was created to cut costs and expand capacity for storing clinical data and samples. Today, it operates as a cooperative, offering cost-effective biobanking services to nonprofits. 🔗: https://bit.ly/4tx7rjn #RareDisease #MedSky

🔎Does it run in the family? Talking about family health history isn’t easy, but it can shape your future. 💙 Genetic Alliance makes it easier with a simple 2-part booklet (EN & ES) to help you: ✨ Start the convo 🧠 Spot patterns 📝 Stay organized 🔗: https://bit.ly/3O3eb9G #GeneticAlliance #MedSky

🧬 There are plenty of organizations devoted to genetic conditions. What sets the 40-year-old Genetic Alliance apart, said president and CEO @sharonterry.bsky.social, “is that we’re sort of the mother of all of them.” 👉 Read here: https://bit.ly/4vrCCyw #GeneticAlliance #RareDisease #MedSky

Genetic Alliance: On a Quest to Expand Genome Sequencing to Every Child in Need

The Genetic Alliance's iHope program has provided genetic testing for 3000 patients and now has 25 sites in low- and middle-income countries.

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🌟 Rare Advocacy Spotlight: Genetic Alliance Highlighting programs like #iHope, the Genetic Alliance Biobank (GAB), and the “Does it Run in the Family?” toolkit - advancing access to genomic medicine. 🔗 Read more: https://bit.ly/3O6HaJL #RareAdvocacySpotlight #GeneticAlliance #iHope #MedSky

Rare Advocacy Spotlight: Genetic Alliance

Discover how the Genetic Alliance is transforming healthcare and supporting families with rare disease programs.

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🚵‍♂️ Racing the Absa Cape Epic - "the Tour de France" of mountain biking - is tough. Living with #PompeDisease and competing? Even tougher. Bruce Campbell faced this challenge while also raising awareness for #RareDiseases. Read here: https://bit.ly/4tEijfy #RareDisease #MedSky #PompeStrong

#Midostaurin had similar severe adverse event rates yet markedly higher discontinuation driven by gastrointestinal intolerance and fatigue. Presented at @theacmg.bsky.social Clinical Genetics Meeting Learn more: https://bit.ly/4bZ70sb #RareDisease #SystemicMastocytosis #MedSky

Real-World Avapritinib Therapy Sustains Tolerability Despite Toxicity Rate

Avapritinib showed notable grade 3 and higher cytopenias but fewer discontinuations, suggesting manageable toxicity with monitoring.

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✈️ Top Gun: Maverick and AATD – An Unexpected Connection Alyssa Gloor shares how Top Gun: Maverick surprisingly echoed her journey as a rare disease patient with #AATD. Read Alyssa's column: https://bit.ly/4t9OIur #RareDisease #PatientPerspective #TopGun #MedSky

Researchers identified a plasma proteomic signature that can detect cardiac involvement in #FabryDisease with high accuracy. Study in the Journal of Molecular Medicine. Read here: https://bit.ly/4tAvCxo #RareDisease #MedSky #Cardiology

Researchers Identify 10-Protein Panel That Detects Early Cardiac Involvement in Fabry Disease

A plasma proteomic signature that identifies cardiac involvement in Fabry disease may enable earlier detection and risk stratification.

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💡 “Hit it fast, hit it hard.” Ed Tobias, MS Contributor, shares his view on how early, high-efficacy treatment can change the course of #MS and why he’s willing to take the risk. Read the full column here: https://bit.ly/4bVwAOQ #RareDisease #MultipleSclerosis #MS #MedSky #PatientPerspective

#Osteoporosis, fractures, and low bone mineral density are highly prevalent in children and adolescents with #Duchenne muscular dystrophy treated with daily glucocorticoids. Study in Osteoporosis International @iofbonehealth.bsky.social Learn more: https://bit.ly/3Oo8bIJ #RareDisease #DMD #MedSky

More Than 80% of Corticosteroid-Treated Patients With DMD Sustain Bone Fractures by Age 18

Osteoporosis, fractures, and low BMD are common in patients with DMD who take corticosteroids, with vertebral fractures likely underdiagnosed.

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The levels of apurinic/apyrimidinic endodeoxyribonuclease 1 (#APEX1) in the serum could be used as a diagnostic biomarker in cholangiocarcinoma (#CCA) and hepatocellular carcinoma (#HCC). Study in the Egyptian Liver Journal. Read more: https://bit.ly/4truf3S #RareDisease #MedSky #OncSky

APEX1 Could Be a Novel Biomarker for CCA and HCC

The levels of APEX1 in the serum could be used as a diagnostic biomarker in cholangiocarcinoma (CCA) and hepatocellular carcinoma (HCC), research shows.

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#CBD significantly reduces antiseizure medication cycling, polypharmacy burden, and health care resource utilization in patients with Lennox-Gastaut syndrome (#LGS), Dravet syndrome (#DS) and tuberous sclerosis complex (#TSC). Read more: https://bit.ly/41S6lCX #RareDisease #MedSky

Cannabidiol Reduces Medication Burden of LGS, Related Syndromes in Real-World Practice

An analysis of US insurance claims showed that cannabidiol reduced polypharmacy, ASM cycling, and health care use in LGS, DS, and TSC.

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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

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.

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