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  • CSF Biomarkers Could Guide SMA Therapy
  • Modern Long-Term Prophylaxis Is Reshaping HAE Management
    Prophylactic definition
  • Orthopedic Care for Achondroplasia Rapidly Evolving as New Strategies Emerge
    Doctor checking patient's spine x-ray image
  • Emerging Solutions Could Make TK2d Easier to Recognize and Treat
    mitochondria and DNA illustration
  • SMA Continues to Challenge Patients Who Couldn’t Be Treated Early in Infancy
    Lyza Weisman and Soraya Perales

Latest News

More News
  • Patients With CLL on Ibrutinib Face Higher Risk of Developing DLBCL-RT
  • TP53 Disruption and Younger Age Raise RT Risk in CLL on Ibrutinib
  • Venetoclax Following BTKi Therapy Shows Promise for Patients With CLL
  • Study Uncovers Possible Link Between FNAIT and Autism
  • Significant Epidemiological Burden Identified in US-Based Patients With MG
  • The SIUVeC Protocol Is Safe, Effective for Umbilical Venous Catheter Insertion
  • Trends in the Genetic Profiles of Patients With MF Described
  • Platelet Count Alone Not Enough to Estimate Bleeding Risk in MF
  • Psychopathology Is Common Among Pediatric Patients With ALL
  • The 124I-Evuzamitide PET/CT May Be Superior to PYP in ATTR-CM Diagnosis
  • Vutrisiran Linked to Improved Functional Capacity in ATTR-CM
  • Possible Link Identified Between ATTR-CM and Alzheimer’s Disease

Latest Features

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  • 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.
  • PoNS Neurostimulation Device Helps to Treat Gait Problems, Patients With MS Say
    By Larry Luxner
    Kerrie Walters first heard of PoNS in a chance encounter with TV personality Montel Williams, who also has MS and difficulties with gait.
  • As Awareness of Huntington Grows Through Help 4 HD and Others, Hope Is Building
    By Larry Luxner
    Lauren Holder, 39, was diagnosed with Huntington disease a year after her father died from it.

Conference Coverage

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WODC 2025

World Orphan Drug Congress USA

Latest Patient Perspectives

More Patient Perspectives
  • Sharing the CAD Journey With a Swiss-based Neuroscience Researcher
    RDA columnist with cold agglutinin disease (CAD) interviews a Swiss-based neuroscience researcher diagnosed with CAD.
    By Alithea Athans, CAD Contributor
    July 8, 2025
  • Patient medical and health history form
    Educating Medical Professionals About FNAIT
    For those like me, with pregnancies affected by FNAIT, detailing my health history helps physicians to understand my full health picture.
    By Robyn Babbitt, FNAIT Contributor
    July 8, 2025
  • Adopt a Complete Dietary Shift to Better Manage Pompe Disease
    Upon my diagnosis of having Pompe disease, the doctors told me very little about the disease and how it would affect me.
    By Bruce Campbell, Pompe Disease Contributor
    July 8, 2025
  • caregiver
    What ‘Caregiver’ Means When Living With MG
    In the myasthenia gravis (MG) world, there are many times when there isn’t a person by your side.
    By Tom Bartlett, MG Contributor
    July 7, 2025

Latest HCP Insights

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  • 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).
  • Labor and birth
    FNAIT Complications and Care Today
    By Ryner Lai, MBBS
    FNAIT complications can be life-threatening; as such, important strategies must be in place to prevent the worse.

Latest Rare Care Podcast

More Episodes
  • 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
  • An Interview With Lucy Culp, the Leukemia & Lymphoma Society VP of State Government Affairs

Quizzes

More Quizzes
  • 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
  • Test Your Knowledge About a Study on the Effect of Acoramidis in ATTR-CM

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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