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  • Patients With PBC Could Benefit From More Personalized Treatment
    AI in medicine
  • Perampanel May Be Safe and Effective in LGS
    AI body systems
  • Pharma Companies Race to Develop New Therapies for Older Patients With SMA
    Newborn screening
  • MGFA Honors British Neurologist With First Lifetime Award for Groundbreaking MG Research
    Samantha Masterson, Angela Vincent, Kevin O’Connor
  • Orthopedic Care for Achondroplasia Rapidly Evolving as New Strategies Emerge
    Doctor checking patient's spine x-ray image

Latest News

More News
  • Navepegritide Linked to Improved Linear Growth in Pediatric Achondroplasia
  • IPSS-M Improves Risk Stratification and Post-Transplant Intervention in MDS
  • Avoiding Radiation Improves Outcomes in Older Patients With PCNSL
  • Association Between Hypothyroidism and IPF Risk May Be Immune Mediated
  • Rigid Fixation Surgery May Prevent Neurological Deterioration in Achondroplasia
  • Patients With Hemophilia Experience Significant Disease Burden Regardless of Disease Subtype, Severity
  • Neither GCase Deficiency nor Lipid Levels Explain PD Development in GD
  • Children With Pediatric-Onset MS Show Accelerated Biological Aging
  • Link Seen Between Inflammation, Osteoporosis in Female GD
  • Hetrombopag Effective in Real-World Patients With ITP
  • Clinicians May Lack Awareness About Fabry Disease
  • New Observational Trial in Fabry Disease Opens

Latest Features

More Features
  • Newborn screening
    Pharma Companies Race to Develop New Therapies for Older Patients With SMA
    By Larry Luxner
    Intrathecal onasemnogene abeparvovec aims to address the genetic root cause of SMA by replacing the SMN1 gene in a single dose.
  • Samantha Masterson, Angela Vincent, Kevin O’Connor
    MGFA Honors British Neurologist With First Lifetime Award for Groundbreaking MG Research
    By Larry Luxner
    After starting in clinical medicine at her parents' urging, Dr. Vincent switched to her field of interest: basic research.
  • Doctor checking patient's spine x-ray image
    Orthopedic Care for Achondroplasia Rapidly Evolving as New Strategies Emerge
    By Tori Rodriguez, MA, LPC, AHC
    Orthopedic management plays a central role in the care of patients with achondroplasia.
  • mitochondria and DNA illustration
    Emerging Solutions Could Make TK2d Easier to Recognize and Treat
    By Kyle Habet, MD
    TK2d has long existed in a therapeutic void, with patients having few, if any, disease-modifying treatment options.
  • Lyza Weisman and Soraya Perales
    SMA Continues to Challenge Patients Who Couldn’t Be Treated Early in Infancy
    By Larry Luxner
    Lyza Weisman spoke at the recent MDA Clinical & Scientific Conference of no longer being able to do the 'little things' that make a life.

Conference Coverage

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conference coverage
Featured Conference
World Orphan Drug Congress

Latest Patient Perspectives

More Patient Perspectives
  • Patients with Friedreich ataxia
    Navigating the Friedreich Ataxia Experience and Learning There’s No One Way
    I experience living with a rare, chronic disease differently than everyone else, and I think that’s fine. There’s no correct FA experience.
    By Lauren Gaczhias, FA Contributor
    July 21, 2025
  • My Grandson’s Sudden Loss of Mobility and What Followed 
    William lives with Duchenne muscular dystrophy (DMD), so stumbling 5 or 10 times a day is normal for him.
    By Sarka Palouckova, DMD Contributor
    July 21, 2025
  • Female medical exam
    Exploring the Link Between AATD and SAA Amyloidosis
    Patients with alpha-1 antitrypsin deficiency (AATD) should know signs and symptoms of related conditions so they can monitor their health and advocate for better care.
    By Alyssa Gloor, AATD Contributor
    July 18, 2025
  • Living With CIDP and Knowing When Your Nerves Are Fried
    I had been diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP) and had lost all feeling in my feet and ankles.
    By Jaimie Sheil, CIDP Contributor
    July 18, 2025

Latest HCP Insights

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  • doctor advising treatment plan
    Challenges in Treatment Decisions and the Value of MRD in CLL
    By Juliana Campos, PhD
    Deciding when and how to treat chronic lymphocytic leukemia (CLL) remains challenging, with MRD-guided strategies offering new insights.
  • ANCA serotypes, MPO and PR3
    The Role of ANCA Serotype in the AAV Diagnostic Process
    By Ryner Lai, MBBS
    Studies show that ANCA seropositivity can be immensely useful in helping physicians identify a likely final diagnosis.
  • DNA genetic testing
    How Healthcare Professionals Regard Genetic Testing in HAE
    By Ryner Lai, MBBS
    Healthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results.
  • Diagnosis and management
    Emerging Priorities in Diagnosing and Managing Gaucher Disease
    By Juliana Campos, PhD
    Current evidence suggests there are 8 key areas of emerging importance in diagnosing and managing Gaucher disease.
  • Teen with doctor
    Biomarkers Play Key Role in Diagnosing NMOSD and Tracking Disability Progression
    By Ryner Lai, MBBS
    Biomarkers are increasingly recognized for their use in diagnosing and tracking disability progression in NMOSD.

Latest Rare Care Podcast

More Episodes
  • An Interview With Dr. Carolina Barnett-Tapia of the University of Toronto on MG Treatment
  • An Interview With Dr. Angela Vincent, Winner of the MGFA’s First Lifetime Achievement Award
  • An Interview With Dr. Daniel Grant, VP and Global Program Head at Novartis
  • An Interview With Dr. Ashley Stanley-Copeland of Dell Children’s Medical Center in Austin, Texas
  • An Interview With Dr. Sithara Ramdas on Neonatal and Juvenile Myasthenia Gravis
  • An Interview With Lyza Weisman on Living With Spinal Muscular Atrophy

Quizzes

More Quizzes
  • Test Your Knowledge About the Etiology of Achondroplasia
  • Test Your Knowledge About the Differential Diagnosis of Achondroplasia
  • Test Your Knowledge About the Diagnosis of GPP
  • Test Your Knowledge About the Epidemiology of GPP
  • 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

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
  • Limb Girdle Muscular Dystrophy
  • 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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