Latest News
Perceived Nusinersen Efficacy May Be Important to Adults With Severe SMA
Psychosocial Factors Associated With Impaired Quality of Life in LCFAOD
Cost-Effectiveness of LAL-D Orphan Drugs Remains Controversial
Coadministration of Cudetaxestat Shows Success in IPF Phase 1 Trial
A Rare Case of VLCAD Deficiency With Severe Concurrent Conditions
Switching to BAY 81-8973 Could Help Optimize Hemophilia Treatment
Untreated IPF Associated With 50% All-Cause Mortality, Study Finds
Newborn Screening May Improve VLCAD Deficiency Treatment
New Imaging Tracking System Could Clarify Stem Cell Role in IPF Therapy
High Serum IgG3 Antibodies as a Potential Blood Biomarker for MS
CEA Levels May Increase in MTC After Successful Selpercatinib Treatment
New Assay Can Measure Lower Active AAT Levels in AATD
Corticosteroids Associated With Delayed Complications in Nonambulatory DMD
Routine Spirometry for Adults With SCD May Mitigate Decline
Researchers Associate Large Benign MTC Tumor With Certain Mutation
AATD Screening During Childhood and Early Adulthood May Improve Prognosis
Study Shows MTC and PTC Constitute Most Common Collision Tumors
Preoperative Computed Tomography May Underestimate Gastric GIST Size
Infusion Ports Show Reliable Central Venous Access for Pediatrics With SCD
Latest Features
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The Brains Behind Nusinersen: A Visit With Geneticist Adrian Krainer, PhD
Five years after the approval of nusinersen (Spinraza®) for SMA, Adrian Krainer, PhD, is immensely proud of his role in developing the lifesaving drug. -
Exploring TKI-Induced Nephrotoxicity in Patients With Medullary Thyroid Carcinoma
We explore various issues related to nephrotoxicity induced by tyrosine kinase inhibitors in patients with medullary thyroid carcinoma. -
Genetic Correction Strategies and Their Cardiac Impact in Patients With DMD
We investigate the genetic correction strategies available for DMD patients today and assess their impact on the heart. -
Exploring the Cause and Effect of Endothelial Dysfunction in PAH
Endothelial dysfunction is a prominent feature of pulmonary arterial hypertension. We explore the cause and effects of it. -
The Role of Next-Generation Sequencing in Diagnosing Infants With Cholestasis
We explore the role of next-generation sequencing in providing a genetic diagnosis for infants with a cholestatic disease, such as Alagille syndrome or AATD. -
Comparing First-Line Immunosuppressants Used in NMOSD
We compare the most common types of first-line immunosuppressants currently used to treat neuromyelitis optica spectrum disorder (NMOSD). -
Case Report: CAD Co-occurring With Antiphospholipid Syndrome
We review a case report of a patient who was diagnosed with CAD associated with antiphospholipid syndrome, and explore the role of the complement system. -
What We Know About Efmoroctocog Alfa in Hemophilia A
We examine the relatively new prophylactic hemophilia A drug, efmoroctocog alfa, and how discuss the data on how well it works. -
Ocular Manifestations Prevalent in LCHAD Deficiency
Current estimates suggest that about half of patients with long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency may suffer from retinopathy.
Latest Patient Perspectives
‘I Try My Best to Not Let Limb-Girdle Muscular Dystrophy Control My Life’
My sister, Jamesha, like me, was diagnosed with limb-girdle muscular dystrophy (LGMD) and was dependent on a BiPap machine and wheelchair.
My Tale of Finding a Mental Health Professional as a DMD Patient
Having a disease like Duchenne muscular dystrophy (DMD) made just searching for a therapist I was comfortable speaking with another quandary.
Daily Nutrition and Support on the Long Road From Diagnosis to Living With Pompe
Pompe disease columnist Bruce Campbell discusses issues related to the long road from symptoms to diagnosis and the importance of nutritional practices.
A Proper Multiple Sclerosis Diagnosis Comes With Caveats
Multiple sclerosis (MS) is a disease of progression. Because of its unique properties, there is no set pattern.
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
Examining the Relationship Between LAL-D and Skeletal Homeostasis
Lysosomal acid lipase deficiency (LAL-D) is a rare disease that results in ectopic lipid accumulation in the body, especially in the liver, spleen, small intestine, blood, and adrenal glands. Given that unesterified cholesterol and fatty acids play an important role in bone metabolism, a team of scientists has proposed that LAL-D also significantly disrupts skeletal…
The Feasibility of Self-Administering AAT Therapy During the COVID-19 Pandemic
The COVID-19 pandemic has been regarded as a litmus test for our modern medical systems. One question it has raised is this: can our modern medical infrastructure cope with a fast-spreading, evasive virus, and do so in accordance with our high modern healthcare standards? There is no use claiming victory if we are only able…
Visualizing Bile Duct Abnormalities in Alagille Syndrome in 3D
A few centuries ago, if a patient complained of general maladies such as “fever” or “chest pain,” the physician could only guess at what was wrong and provide symptomatic relief (such as sponging down the fever and ensuring that the patient is eating and ambulating). We should not be too quick to dismiss the “guesses”…
Clinical Thinking in Diagnosing and Managing Cold Agglutinin Disease
Sigbjørn Berentsen, MD, PhD, is a consultant hematologist and senior researcher in the Department of Research and Innovation at Haugesund Hospital in Norway. He has authored a number of studies on autoimmune hemolytic anemia (AIHA), and its cold agglutinin disease (CAD) subtype. He is a respected expert on the subject in a field in which…
New Insights Into the Management of Carnitine-Acylcarnitine Translocase Deficiency
Carnitine-acylcarnitine translocase deficiency (CACTD) is a type of long chain fatty acid oxidation disorder (LCFAOD) characterized by severe cardiac dysfunction. It has the highest rate of cardiac arrhythmia and mortality among LCFAODs. Until recently, only 68 cases of CACTD had been reported in the literature. This number increased to 87 with a recent publication by…
Exploring the Possible Association Between COVID-19 Vaccines and NMOSD
There is a dilemma public health authorities face when it comes to disseminating information about COVID-19 vaccines. The goal here is to reassure as many people as possible that these vaccines are safe and potentially life-saving. However, we live in an age of disinformation, in which any real (or imaginary) issue can be blown out…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Complications of NMOSD January 13, 2022
- Test Your Knowledge About Testing in Alagille Syndrome January 7, 2022
- Test Your Knowledge About the Experimental Therapies for CAD December 8, 2021
- Test Your Knowledge About the Complications of Alagille Syndrome December 2, 2021
- Test Your Knowledge About the Etiology of LAL-D November 25, 2021
- Test Your Knowledge About the Types of Alagille Syndrome November 4, 2021
- Test Your Knowledge About the Symptoms of Patients With AATD October 7, 2021
- Test Your Knowledge About the Differential Diagnosis of Patients With LCFAOD October 6, 2021
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