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  • CME/CE
  • Causal Link Between PBC, PSC, and Type 1 Diabetes Identified
    diabetes
  • First Birth in FNAIT Trial Marks Milestone in Fetal Pharmacotherapy
    Newborn
  • 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
  • Occupational Pesticide Exposure Drives Distinct miRNA Profiles in CLL and MM
  • Scalp Cooling With Antioxidants May Suppress Chemotherapy Hair Loss in ALL
  • TG/HDL-C Ratio Detects Metabolic Syndrome in Children With PWS
  • New Study Will Assess Survival of Patients With PAH and Diabetes
  • Loss of MTAP Signals Poor Overall Survival in Cholangiocarcinoma
  • WB-TG a Potentially Valuable Tool for Managing PNH
  • Quality Improvement Interventions Needed to Manage Hemophilia Cases in ED
  • Physiotherapy May Improve Joint Function and QoL in Hemophilia A
  • Orthopedic Surgery After Gene Therapy Requires Careful Management
  • Tafamidis Associated With Reduced All-Cause Mortality in ATTR-CM
  • New Method Can Successfully Identify Type of Amyloid Causing Cardiac Amyloidosis
  • Oral Tests May Be Effective in Advanced Patients With SMA

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

More Meetings
conference coverage
Featured Conference
World Orphan Drug Congress

Latest Patient Perspectives

More Patient Perspectives
  • How a Telemedicine App Can Play a Critical Role in Managing CAD
    Dietitians can guide patients with dietary modifications that may help manage a rare condition, such as cold agglutinin disease (CAD).
    By Alithea Athans, CAD Contributor
    July 29, 2025
  • Hemophilia breakthrough bleed
    My First Bleed Away From Home: Lessons Learned
    As a person with hemophilia, I was terrified of having a bleed and not being near my go-to care team.
    By Domenic Catrine, Hemophilia Contributor
    July 29, 2025
  • Meeting Pompe Disease Challenges one Step Forward at a Time
    There are times when I feel like I am in control and managing all the challenges thrown at me living with Pompe disease.
    By Bruce Campbell, Pompe Disease Contributor
    July 29, 2025
  • pompe disease treatment
    Navigating and Identifying the Complexities of Pompe Disease
    Not just my usual body ache and pain caused by the symptoms of living with Pompe disease, but every breath I take feels like it is a real effort and struggle.
    By Bruce Campbell, Pompe Disease Contributor
    July 29, 2025

Latest HCP Insights

More Insights
  • Gaucher disease diagnosis
    Deficiencies in the Diagnostic Process of Gaucher Disease
    By Ryner Lai, MBBS
    Currently, the diagnostic process of Gaucher disease often results in unnecessary delays and is thus prime for an overhaul.
  • online questionnaire
    Understanding the Impact of GPP on Quality of Life Outcomes
    By Ryner Lai, MBBS
    Generalized pustular psoriasis (GPP) contributes to consistently negative outcomes across various quality of life parameters.
  • Male patient with doctor
    A Holistic Approach to Improving Quality of Life Among Patients With SCD
    By Ryner Lai, MBBS
    To make a real difference in the lives of patients with SCD, there should be a focus on optimizing care across a vast spectrum of concerns.
  • Diagnosis; blood tests
    Improving the Diagnostic Rate of IgG4-RD
    By Ryner Lai, MBBS
    With the characterization of IgG4-RD, this disease can finally be managed in a comprehensive manner—provided that it is correctly diagnosed, of course. 
  • Heart health
    Cardiac Amyloidosis and Pulmonary Sarcoidosis May Coexist
    By Ryner Lai, MBBS
    An elderly patient with a history of pulmonary sarcoidosis was diagnosed with transthyretin amyloid cardiomyopathy.

Latest Rare Care Podcast

More Episodes
  • An Interview With Dr. Richard Nowak, Director of the Yale Myasthenia Gravis Clinic
  • An Interview With Robert Steen on the Movie ‘The Remarkable Life of Ibelin’
  • 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 Texas

Quizzes

More Quizzes
  • Test Your Knowledge About Therapies for Achondroplasia
  • 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

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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