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  • New Study Suggests Serum IgG4 Levels Not Perfect Tool to Diagnose IgG4-RD
    Blood serum testing
  • Patients With Fabry Disease Could Benefit From Diabetes Screening
    Glycosylated HbA1c test
  • 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
  • Nucleic Acid-Based Therapies, PCSK9 Inhibitors Shown to Improve Lp(a) Levels
  • Iptacopan May Lead to Higher Response Rates Than C5 Inhibitors in PNH
  • Caregivers, Healthcare Providers Need Better Hemophilia Information to Care for Patients
  • Innovative Lysosomal Therapy Targets GD and Parkinson
  • Single Molecule Array Immunoassay Method May Be Useful in ATTR-PN Care
  • Hyponatremia Independent Predictor of Higher In-Hospital Mortality in HCC
  • HT-6184 Shows Promise in Modulating Clonal Inflammation in MDS
  • AI-Discovered Drug Demonstrates Initial Safety and Tolerability in IPF
  • Orelabrutinib-Based Regimen Effective in Newly Diagnosed PCNSL
  • Fenebrutinib Shows Extended Inhibition of Disability Progression in MS
  • Rethinking Rare Disease Research and Care: GD in the Spotlight
  • Korean Scoring System for GD Shows Potential for Early Diagnosis

Latest Features

More Features
  • 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
  • Hemophilia awareness
    My Mission: Spreading Awareness About Hemophilia Whenever, Wherever Needed
    Growing up as a patient with hemophilia, I learned quickly that there aren’t too many people who know what my disease is—or have even heard of it.
    By Domenic Catrine, Hemophilia Contributor
    June 10, 2025
  • New Discoveries in Myasthenia Gravis Identified With Cryo-EM Imaging
    I have been living with myasthenia gravis for more than 10 years, diagnosed for almost 6 years.
    By Tom Bartlett, MG Contributor
    June 10, 2025
  • pompe disease complications
    You Have What Disease? Explaining Pompe  
    Eventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me.
    By Keyana Sullivan, Pompe Disease Contributor
    June 10, 2025
  • prognosis
    Conquering the Impossible While Living With a Rare Disease 
    Having overcome so much when I was younger, I was prepared when I was diagnosed with Pompe disease.
    By Bruce Campbell, Pompe Disease Contributor
    June 10, 2025

Latest HCP Insights

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  • fetus and placenta
    The Role of Inflammation as a Key Driver in FNAIT
    By Ryner Lai, MBBS
    A recent study indicated that placental inflammation may be a key disease modulator in fetal and neonatal alloimmune thrombocytopenia.
  • Newborn screening
    When Is Genetic Testing Appropriate to Investigate a Diagnosis of HAE in Children?
    By Ryner Lai, MBBS
    A case study demonstrates how genetic testing can be useful in children with a positive family history of hereditary angioedema.
  • 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.

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 Treatment of CIDP
  • 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

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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