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.

#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

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.

🎙️ 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

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.

#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

A quote on a blue background with a large quotation mark. The text reads: "My workshop brought an important issue to the forefront of our attention: Given the constant effort required to keep our children safe, how can we celebrate our children’s strengths?" Emily Felt, PWS Contributor.

💛 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 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.

💔 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

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.

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

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.

🧠 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

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.

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

A circular text graphic features a quote: "I’m so thankful every day for the relationships I have. My tribe is strong, and they keep me going. I appreciate all their love and support, and I know I wouldn’t be able to survive this journey without them." Below the quote, a small photo shows a smiling person with glasses. The name "Kristy Coleman, ITP Contributor" is written beside the photo. The background is dark blue with light circular patterns.

❓"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 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.

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

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.

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

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.

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

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.

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

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.

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

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.

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

A promotional graphic for Genetic Alliance featuring a quote about the impact of genomic medicine. It includes the title "Rare Advocacy Spotlight" and highlights the role of Sharon Terry, MA, Chief Executive Officer of Genetic Alliance. Sharon Terry's photo is included.

🧭 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

The image features a banner with the Genetic Alliance logo and the word "iHope" in orange script above a blue background. The text reads, "Learn more about iHope, A program of the Genetic Alliance (1/4)." Below, there's a section labeled "Rare Advocacy Spotlight" with stylized graphics.

This image consists of a colorful grid pattern background with text overlay. The text reads: "iHope connects children with undiagnosed genetic conditions to cutting‑edge genome and exome sequencing—at no cost to families." The top section features logos of Genetic Alliance and iHope. The bottom section displays "Rare Advocacy Spotlight" with abstract shapes.

The image features text about a network associated with Genetic Alliance and iHope. The network includes 5 cost-free genomic sequencing laboratories, 24 clinical sites for patient referrals and follow-up care, and has involvement in 14 countries. The background includes abstract designs that suggest connectivity, with a spotlight on "Rare Advocacy Spotlight" at the bottom.

This image is an informational graphic from Genetic Alliance and iHope. It outlines their mission: providing free clinical genomic testing for children with suspected rare genetic conditions, collaborating with experts globally, and supporting families and research to improve diagnosis outcomes. At the bottom, it features the Rare Advocacy Spotlight logo.

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 image is a promotional graphic for the Genetic Alliance Biobank, featuring their logo and the iHope logo. It offers services to nonprofit communities and encourages contact via the provided email. A hand is shown handling a storage box. The bottom label reads "Rare Advocacy Spotlight.

🔬 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

An image with the Genetic Alliance and iHope logos at the top. Below is a headline: "Does it Run in the Family?" Toolkit. A description explains the toolkit helps collect and understand family health history. A family sits together, with one person showing a document to the others. At the bottom, a note mentions the booklet is available in English and Spanish, alongside a Rare Advocacy Spotlight icon.

🔎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

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.

🧬 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

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

🌟 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

A quote is displayed on a light background. The text reads: "For me, this journey is about more than just finishing a race. It’s also about education, about raising awareness of the many rare diseases out there that too often go unnoticed, misunderstood, or undiagnosed for years." Below the quote, it says "Bruce Campbell, Pompe Contributor." To the left, there is a circular image showing a person sitting on a bench outdoors.

🚵‍♂️ 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

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.

#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

A quote on a blue background reads: "Much of an AATD patient’s life is spent pushing forward when things don’t feel right. I’ve experienced this not just when exercising, but when getting treatment. It’s hard to feel heard when my condition is so obscure." The quote is attributed to Alyssa Gloor, an AATD contributor. There is a circular image of a person in the bottom right corner.

✈️ 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 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.

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

This image is an article header for a patient column titled "Take It From a Patient With MS: Hit It Fast and Hit It Hard." The article discusses treating MS swiftly with effective DMTs. It includes a photo of various pills on a scalloped plate with a fork and spoon beside it. Below is a picture of Ed Tobias, an MS contributor, wearing a hat.

💡 “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

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.

#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

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.

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

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.

#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

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