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  • Possible Link Identified Between ATTR-CM and Alzheimer’s Disease
    Cognitive decline
  • Oral Function Test Valuable in Severely Affected Patients With SMA
    Diagnosis concept
  • 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
  • The Caregivers of Patients With TK2d Report Social and Financial Burdens
  • Tafamidis May Benefit Patients With Mixed-Phenotype ATTR-CM
  • Patients With Hemophilia More Likely to Suffer From Poor Mental Health
  • Novel FVIII Mimetic Shows Tolerability, Coagulation Activity in Healthy Subjects
  • In Hemophilia B, One-Stage Assay After Gene Therapy Recommended
  • Shifts Observed in Maintenance Treatment Patterns for European Patients With ITP
  • Prompt Intervention May Be Key to Preventing Bone Damage in GD
  • Patient With High BMI, History of Splenectomy Diagnosed With GD Type 1
  • Experts Urge Caution in Reporting Incidental HAE-nC1INH Variants
  • D313Y Alpha-Galactosidase Variant Not Associated With Fabry Disease
  • Upregulation of ASIC1a Channels May Lead to Pain Hypersensitivity in Fabry Disease
  • New Trial Aims to Test Migalastat in Patients With Fabry Disease

Latest Features

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  • 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

MORE MEETINGS
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WODC 2025

World Orphan Drug Congress USA

Latest Patient Perspectives

More Patient Perspectives
  • Caring community
    The Power of Shared Experiences When Living With Hemophilia
    The hemophilia community is strong, simply due to the fact that we all have one thing in common that bonds us together.
    By Domenic Catrine, Hemophilia Contributor
    July 14, 2025
  • What I Pack in My ITP Emergency Bag for a Hospital Stay
    Hospital stays are almost inevitable when you have immune thrombocytopenia (ITP). There’s nothing worse than hearing those words, “We’re admitting you,” and having nothing with you for your stay. In the past, I would have had to send my late husband to go back home and try to pack a bag for me. That can…
    By Kristy Coleman, ITP Contributor
    July 11, 2025
  • Tired woman
    The Pitfalls of Being Sedentary With AATD
    Lung patients with alpha-1 antitrypsin deficiency (AATD) often have trouble finding the balance between rest and exercise that feels healthy.
    By Alyssa Gloor, AATD Contributor
    July 11, 2025
  • Prioritizing Your Mental Health While Living With PBC
    When I was diagnosed with primary biliary cholangitis (PBC), I was overwhelmed.
    By Shannon Cline
    July 10, 2025

Latest HCP Insights

More Insights
  • 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.
  • Real-world data
    Assessing PBC Prevalence and the State of Care Today
    By Ryner Lai, MBBS
    The prevalence of PBC is expected to rise in the United States and the wider world, requiring concrete, proactive action.
  • tk2d care team
    Divergence of Care Strategies Between Younger and Older Patients With HCC
    By Ryner Lai, MBBS
    Management strategies differ significantly between younger and older patients with hepatocellular carcinoma (HCC).

Latest Rare Care Podcast

More Episodes
  • 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
  • An Interview With Marcus Delatte, PhD, on Using Cannabinoids to Treat Rare Seizure Disorders

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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