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  • Survey Reveals Sex-Based Differences in Hemophilia A Assay Use
    Male vs female
  • Avapritinib Offers Quality of Life and Symptom Improvement in Indolent SM
    Prescription bottle and medicine; capsules
  • Pioneering Case Illustrates the Promise of Personalized Gene Editing for Rare Diseases
    Muldoon family
  • Vasculitis Awareness Month Highlights Advances in Treatment and Ongoing Obstacles
    Victory Over Vasculitis group members
  • A Kansas Man’s Lifelong Struggle With Limb-Girdle Muscular Dystrophy
    Donavon Decker

Latest News

More News
  • Adding Secukinumab Accelerated Recovery and Reduced Steroid Burden in AGEP
  • Zanubrutinib and Venetoclax Deliver Strong Outcomes Across High-Risk CLL Subtypes
  • Vosoritide Shows Sustained Growth Benefits in Achondroplasia
  • X-Linked Hypophosphatemic Rickets Misdiagnosed as Achondroplasia
  • Customized NIV Masks Can Be Made In-Facility for Children With Achondroplasia
  • Psychosocial Challenges Common Among Parents of Children With Achondroplasia
  • Combination Therapy Is Safe for PAH Patients With Comorbidities
  • Air Pollution Increases Risk of Mortality and Lung Transplantation in PAH
  • Epoprostenol for PAH May Increase Risk of Thyroid Dysfunction
  • New Study Suggests Serum IgG4 Levels Not Perfect Tool to Diagnose IgG4-RD
  • Multiple Myeloma and Retroperitoneal Fibrosis Associated With IgG4-RD
  • Novel Noninvasive Biomarker Identified for PBC

Latest Features

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  • Muldoon family
    Pioneering Case Illustrates the Promise of Personalized Gene Editing for Rare Diseases
    By Manuela Callari, PhD
    KJ Muldoon has been achieving developmental milestones, but his long-term prognosis is unknown.
  • Victory Over Vasculitis group members
    Vasculitis Awareness Month Highlights Advances in Treatment and Ongoing Obstacles
    By Larry Luxner
    The nonprofit Vasculitis Foundation advocates for patients with 1 or more of the 20-plus subtypes of the disease.
  • Donavon Decker
    A Kansas Man’s Lifelong Struggle With Limb-Girdle Muscular Dystrophy
    By Larry Luxner
    Dutch filmmaker Daimon Xanthopoulos recently produced a 25-minute documentary about Donavon Decker’s life and relationships.
  • John Anderson
    Regional Pockets of HAE Persist Due to Founder Effect, Affecting Generations of Families
    By Larry Luxner
    HAE affects approximately 1 in 50,000 people globally, but is far more prevalent in a few select geographic regions.
  • New Prader-Willi Therapy Gives Parents Rare Hope for Managing Hyperphagia
    By Larry Luxner
    Diazoxide choline is believed to activate the ATP-sensitive potassium channel, which may decrease secretion of peptides that regulate appetite.

Conference Coverage

MORE MEETINGS
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WODC 2025

World Orphan Drug Congress USA

Latest Patient Perspectives

More Patient Perspectives
  • Vaping and AATD: A Risk Assessment
    Individuals with the genetic condition alpha-1 antitrypsin deficiency (AATD) are prone to lung damage, even without the risk of vaping.
    By Alyssa Gloor, AATD Contributor
    June 5, 2025
  • Doctor discussing options
    Breaking Down an AATD Clinical Trial on PiSZ Patients
    Individuals with AATD and the PiSZ genotype need to be part of clinical trials that are researching specific aspects of their genotype.
    By Alyssa Gloor, AATD Contributor
    June 5, 2025
  • Karate
    Advice for Those Living With Hemophilia: Keep Moving
    People with hemophilia want to be able to enjoy life for what it is without having to worry, but that’s not always the reality for us.
    By Domenic Catrine, Hemophilia Contributor
    June 3, 2025
  • The Hope and Stress of Waiting for Genetic Testing Results
    I live with generalized myasthenia gravis (gMG) and have been on treatments for 6 years.
    By Tom Bartlett, MG Contributor
    June 3, 2025

Latest HCP Insights

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  • palliative care
    Enhancing Palliative Care in HCC
    By Ryner Lai, MBBS
    Palliative care should be integrated into the early treatment and management of patients with hepatocellular carcinoma (HCC).
  • Pathophysiology
    AAV Pathophysiology: Rare Inborn Errors of Immunity
    By Ryner Lai, MBBS
    Although there are early data, more research is needed regarding why ANCA develop in an inborn error of immunity and whether they play a role in AAV.
  • guidelines
    The Importance of International Consensus Guidelines in the Management of Achondroplasia
    By Ryner Lai, MBBS
    International consensus guidelines are highly valuable in ensuring that the care of patients with achondroplasia is optimized.
  • Person using mobile phone app
    Are Mobile Apps Ripe for Usage in Telehealth Monitoring of CIDP?
    By Ryner Lai, MBBS
    Clinical researchers are increasingly turning to mobile apps to monitor health in patients with chronic diseases.
  • Quality of life
    Efforts to Improve Quality of Life in PNH: Are We Moving Fast Enough?
    By Ryner Lai, MBBS
    Overall, patients with PNH struggle with a notable reduction in quality of life, revealing a significant clinical unmet need.

Latest Rare Care Podcast

More Episodes
  • An Interview With Dan Lier, a Partner With the Nonprofit Group ‘Somebody To Talk To’
  • An Interview With Dr. Antonella Favit-Van Pelt on Neuromodulation to Treat MS
  • An Interview Lauren Holder, an Advocate and Patient With Huntington Disease
  • An Interview With Joyce Kullman, Executive Director of the Vasculitis Foundation
  • An Interview With Award-Winning MDA Patient Advocate Donavon Decker
  • An Interview With Hereditary Angioedema Expert Dr. John Anderson

Quizzes

More Quizzes
  • Test Your Knowledge About the Epidemiology of TK2d
  • Test Your Knowledge About the Diagnosis of TK2d
  • Test Your Knowledge About the Complications of IgG4-RD
  • Test Your Knowledge About Vasculitis
  • Test Your Knowledge About the Symptoms of MF
  • Test Your Knowledge About the Comorbidities of Achondroplasia
  • Test Your Knowledge About the Pathophysiology of GPP
  • Test Your Knowledge About a Study on the Effect of Acoramidis in ATTR-CM
  • Test Your Knowledge About the Etiology of Achondroplasia
  • Test Your Knowledge About the Etiology of PAH
  • Test Your Knowledge About the Clinical Features of IgG4-RD
  • Test Your Knowledge About the Treatment of Achondroplasia

Rare Diseases

More Diseases
  • Achondroplasia
  • Acute Lymphoblastic Leukemia
  • Alagille Syndrome
  • Alpha-1 Antitrypsin Deficiency
  • ANCA-Associated Vasculitis
  • Cholangiocarcinoma
  • Chronic Inflammatory Demyelinating Polyneuropathy
  • Chronic Lymphocytic Leukemia
  • Cold Agglutinin Disease
  • Cystic Fibrosis
  • Diffuse Large B-Cell Lymphoma
  • Dravet Syndrome
  • Duchenne Muscular Dystrophy
  • Fabry Disease
  • Fetal and Neonatal Alloimmune Thrombocytopenia
  • Friedreich Ataxia
  • Gastrointestinal Stromal Tumor
  • Gaucher Disease
  • Generalized Pustular Psoriasis
  • Hemolytic Disease of the Fetus and Newborn
  • Hemophilia
  • Hepatocellular Carcinoma
  • Hereditary Angioedema
  • Huntington Disease
  • Idiopathic Pulmonary Fibrosis
  • IgG4-Related Disease
  • Immune Thrombocytopenia
  • Lennox-Gastaut Syndrome
  • Long Chain Fatty Acid Oxidation Disorder
  • Lysosomal Acid Lipase Deficiency
  • Medullary Thyroid Carcinoma
  • Multiple Sclerosis
  • Myasthenia Gravis
  • Myelodysplastic Syndromes
  • Myelofibrosis
  • Neuromyelitis Optica Spectrum Disorder
  • Paroxysmal Nocturnal Hemoglobinuria
  • Pompe Disease
  • Prader-Willi Syndrome
  • Primary Biliary Cholangitis
  • Primary Central Nervous System Lymphoma
  • Pulmonary Arterial Hypertension
  • Sickle Cell Disease
  • Spinal Muscular Atrophy
  • Systemic Mastocytosis
  • Systemic Sclerosis
  • Thymidine Kinase 2 Deficiency
  • Transthyretin Amyloid Polyneuropathy
  • Transthyretin-Mediated Amyloid Cardiomyopathy
  • Wilson Disease
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