Latest News
GISTs Mimic Gynecologic Diseases: A Case Series
Cannabidiol and Cannabigerol Effectively Inhibit CCA Cells
HLC Assay More Effective in Detecting CAD Monoclonal Components
Clinical Trial Testing Pompe Disease Gene Therapy Put on Hold
Newly Identified Hub Genes as Methylation-Based Biomarkers in CCA
A Rare Case of Pompe Disease and Congenital Myasthenic Syndrome
Rituximab Effective for MG but May Cause Severe Infection
Longer Walk Distance Correlated With Improved Outcomes in Pompe Study
Cardiac Autonomic Dysfunction Linked With Parasympathetic Impairment in MG
Personalized Limited Sampling Improves FVIII Half-Life in Hemophilia A
Researchers Compare Best Surgical Approaches for Treating MG
Study Finds Several Factors Influence Blood Loss in Hemophilia Knee Arthroplasty
Efmoroctocog Alfa Reduces FVIII Consumption in Hemophilia Trial
Two Infants With SMA Successfully Treated With Nusinersen Shortly After Birth
Study Highlights Clinical Manifestations of CPT2 Deficiency
NSAID Use in Hemophilia Linked With Low Risk of Adverse Events
Valproic Acid Affects Efficacy of Nusinersen in SMA Study
Isolated Unilateral Ptosis Unlikely Caused by MG, Study Finds
Combinatorial Therapy Fails to Counteract SMA Pathology
Latest Features
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Can Artificial Intelligence Be Used to Predict Malignant Potential in GIST?
Artificial intelligence has been shown to have good predictive value for the malignant potential of gastrointestinal stromal tumors. -
Lessons From a Case Study of an Infant With Primary Carnitine Deficiency
A team of physicians presented a case study of an infant diagnosed with primary carnitine deficiency, a long chain fatty acid oxidation disorder. -
Three Lakes Foundation and CHEST Collaborating to Speed Up Diagnosis of IPF
A pulmonary fibrosis foundation and a professional medical association have teamed up to slash the time it takes to diagnose idiopathic pulmonary fibrosis. -
The Challenges of Using Gene Therapy to Treat Respiratory Disease
Researchers are increasingly exploring the potential of gene therapy in treating respiratory diseases. -
The Challenges of Diagnosing and Managing Hereditary Angioedema
The difficulty in diagnosing hereditary angioedema lies in the variability of its phenotype. An initial misdiagnosis is not uncommon. -
How Epidemiological Studies Can Help Improve Clinical Outcomes in Cystic Fibrosis
Medical researchers reported on epidemiological data concerning cystic fibrosis, yielding new insights on how to improve clinical outcomes. -
Updated Clinical Practice Guidelines Provide Strategies for Diagnosing and Treating IPF
An updated set of clinical practice guidelines has been issued for the diagnosis and treatment of idiopathic pulmonary fibrosis in adults. -
The Value of Biomarkers in Diagnosing DMD and Tracking Disease Progression
Researchers are conducting research into DMD on multiple fronts, including identifying crucial biomarkers to track disease progression. -
Improving Outcomes in Alagille Syndrome Through Multidisciplinary Work
Multidisciplinary cooperation is a key part of treating Alagille syndrome, which can affect various systems in the body.
Latest Patient Perspectives
How I Turned a Pompe Diagnosis Into a Challenge I Would Not Walk Away From
A diagnosis of Pompe disease can take years and patients suffer with pain and weakness in the meantime.
Living With CAD Means Endless Tough Decisions
The winter months are particularly tough for a cold agglutinin disease (CAD) patient.
SMA Stole My Lifelong Dream: Having and Raising a Child
As a woman with SMA, the part I struggle with is accepting I have been cheated of the opportunity to carry a life inside me.
Searching for the Silver Lining Following a Medullary Thyroid Cancer Diagnosis
Shortly after I was diagnosed with medullary thyroid carcinoma (MTC), I created a blog that reflects my progress and some silver linings.
Rare Care Podcast
Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.
Latest HCP Insights
The Power of Inhibiting the Complement System in Cold Agglutinin Disease
The complement system plays an important role in the etiology of many autoimmune diseases, including cold agglutinin disease (CAD), a subset of autoimmune hemolytic anemia. In CAD, auto-antibodies start to react at low temperatures, causing hemolysis and giving rise to clinical symptoms such as fever, dark urine, and flank pain. Scientists are taking a closer…
How Hemophilia Continues to Affect Patients’ Quality of Life
The great sting when it comes to chronic illnesses such as hemophilia is arguably their unpredictable nature. Before factor replacement therapy was discovered, every waking day for a patient with hemophilia was a roll of the dice. Patients can get injured by something as simple as knocking one’s knee against a bed frame. The bleeding…
When Systemic Mastocytosis and Pregnancy Intersect
Systemic mastocytosis is a subset of mastocytosis, which also includes cutaneous mastocytosis and mast cell sarcoma. Mastocytosis has been linked to somatic gain-of-function mutations of the c-KIT gene. KIT is a tyrosine kinase receptor that plays an important role in regulating the normal proliferation, maturation, adhesion, and chemotaxis of mast cells. Mast cell density has…
Examining Exon Skipping as a Gene Therapy Approach in DMD
Research on gene therapy has become increasingly prominent in recent years, and the trajectory is expected to continue. Since the Human Genome Project was completed a few decades ago, the collective imagination of scientists and physicians worldwide has been ignited by the possibilities that gene therapy opens up. Gene therapy offers the tantalizing prospect of…
Beyond Imatinib: Next-Generation TKIs for the Treatment of GIST
Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal cancer of mesenchymal origin. It is mostly driven by oncogenic KIT and PDGFRA gain-of-function mutations. This disease is most prevalent among adults aged between 60 and 65 years. There are a number of possible treatment strategies for patients with advanced GIST. Surgery is the treatment of…
Grading Systems Proposed to Improve the Precision of Treatment for MTC
A key change in the recently published 5th edition of the WHO Classification of Endocrine and Neuroendocrine Tumors was the subdivision of thyroid tumors into new categories that more clearly reflect their cell of origin, molecular classification, cytopathological and histopathological features, and biological behaviors. With regards to medullary thyroid carcinoma (MTC), “the most important update…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Etiology of Cholangiocarcinoma June 15, 2022
- Test Your Knowledge About the Differential Diagnosis of Cholangiocarcinoma June 8, 2022
- Test Your Knowledge About the Differential Diagnosis of ALGS May 5, 2022
- Test Your Knowledge About the Etiology of Pompe Disease April 27, 2022
- Test Your Knowledge About the Etiology of ALGS April 7, 2022
- Test Your Knowledge of CAD Patient Education March 23, 2022
- Test Your Knowledge of the Complications of Pompe Disease March 16, 2022
- Test Your Knowledge About the Clinical Features of Alagille Syndrome March 9, 2022
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