Latest News
Antibody Status Impacts Disease Severity in MG
Elevated Plasma C5a Levels Correlate With Pain in NMOSD
AAVs Appear to Be Effective Vectors for Gene Therapy in LCFAOD
Older Patients With Hemophilia Show Mild Disease But Poor Quality of Life
New Gene Therapy Approach Holds Potential Therapeutic Value in LAL-D
Poor Response to Nusinersen May Predict Benefit From Onasemnogene Abeparvovec
Teriflunomide Use Increasing in Patients With MS, Particularly Among Some Subgroups
Rodatristat Ethyl Plus Ambrisentan Reduces Occlusions in PAH Model
Cognitive Performance Predicts Self-Management in Patients With MS
High KL-6 Level Associated With Disease Progression in IPF
Researchers Recommend Adding 3D FLAIR Sequences to MRI Protocol for MS
Study Highlights Need to Manage Sinonasal Symptoms in CF
Cognitive Impairment Correlates With Decreased Thalamic Volume in MS
Rapid Whole Genome Sequencing Facilitates Early Treatment of LAL-D
Newly Identified Metabolites Aid in Early Detection of MTC
Transient Elastography Useful in Identifying AATD-Related Liver Disease
New Statistical Method Predicts Vaso-Occlusive Crisis in SCD
Term Pregnancy and Successful Delivery in a Patient With AATD
MTC With Cushing’s Syndrome Successfully Treated With Selpercatinib
Latest Features
-
The Underrecognized Burden of Sleep‐Disordered Breathing in Cystic Fibrosis
The underdiagnosis and consequent undertreatment of sleep-disordered breathing in the CF population can compromise patients’ overall outcomes. -
Aytu BioPharma’s Healight Device Could Help Treat Rare Pulmonary Diseases
Aytu BioPharma has developed an endotracheal respiratory catheter which its CEO says has “tremendous potential” in IPF, PAH, and other respiratory diseases. -
Is Eradicating Mast Cells a Feasible Strategy for Systemic Mastocytosis?
Scientists have proposed the eradication of mast cells as a therapeutic strategy to fight against mast cell activation disorders. -
Acute Mast Cell Leukemia Preceded by Germ Cell Tumor: A Case Report
Researchers reported the case of a patient who had acute mast cell leukemia preceded by a malignant mediastinal germ cell tumor and published their findings in Cancer Management and Research. Systemic mastocytosis (SM) occurs when mast cells invade the bone marrow as well as other organs in the body. Mast cell leukemia is a subtype… -
Addressing Dyslipidemia in Patients With Alagille Syndrome
We explore 2 case studies of pediatric patients diagnosed with Alagille syndrome who presented with dyslipidemia and discuss what we can learn from them. -
The Practicalities of Genomic Profiling for Cholangiocarcinoma
Genomic profiling for cholangiocarcinoma and other cancers demonstrates significant evidence-based benefits, but faces practical hurdles. -
What We Can Learn From a Case Study of Myasthenia Gravis Occurring With COVID-19
During the height of the COVID-19 pandemic, physicians reported treating new cases of myasthenia gravis post-infection. -
Changing the Paradigm of Cystic Fibrosis Treatment With CFTR Modulators
Modulators of the cystic fibrosis transmembrane conductance regulator protein have emerged as a promising therapeutic strategy for CF. -
Are Sickle Cell Carriers at Higher Risk of Developing Health Complications?
We explore the controversy around whether sickle cell carriers are at a higher risk of developing health complications.
Latest Patient Perspectives
Should I Have Another Catheterization for My Pulmonary Arterial Hypertension?
I live with pulmonary arterial hypertension (PAH), a progressive rare disease that is treated by addressing the symptoms only and not the disease.
AATD Patients and Humidity Do Not Get Along
Many people with alpha-1 antitrypsin deficiency (AATD) would agree they need some sort of support during humid days.
Once an ALGS Diagnosis Was Confirmed, Prior Symptoms Made Sense
After my son was diagnosed with Alagille syndrome (ALGS), my husband and I completed genetic testing and discovered my husband had ALGS too.
Staying Hydrated Is Essential for People With Cold Agglutinin Disease
Obviously, dehydration is dangerous for anyone, especially if it is extreme. However, for people with conditions like CAD, it has an added level of urgency.
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 Continuing Evolution of Our Understanding of IPF
One of the most important aspects of the scientific process is that assumptions are tested, and discarded when discredited, and new hypotheses take their place, with the same stringent measures firmly in place to ensure that they are rigorously tested as well. In other words, medicine is an evolving discipline; going a step further, it…
Clinicians Weigh in on When Augmentation Therapy Is Called for in AATD
When I was actively serving as a doctor, I was struck by how passive much of medicine is. Oftentimes, we are handed the updated diagnostic and management guidelines of a particular disease and are expected to follow them to a T—no questions asked. The basic assumption here is that guidelines were created only after stringent…
Prescribing Physical Exercise to Improve Outcomes in PAH
Throughout most of human history, people did not relate exercise with health to the same degree that we see today. This was probably because people were already getting ample amounts of physical activity without the need for additional prompts. It was not more exercise that people needed; it was less of it. Fast forward to…
Dissecting the Relationship Between Alagille Syndrome and Notch Signaling
It is now well established that Alagille syndrome (ALGS) is caused by a dysfunction in Notch signaling. This dysfunction is driven primarily by pathogenic variants in JAGGED 1 (JAG1) and NOTCH2. It was only in the second half of the 20th century that the relationship between ALGS and pathogenic variants was first established. Since then,…
Recent Changes in the Diagnosis and Treatment of Perihilar Cholangiocarcinoma
There is a famous Korean saying: “After 10 years, even the mountains and rivers change.” This proverb poignantly captures the truth that reality shifts and what is here today may be gone tomorrow. However, apply this to medicine and this saying takes on a more hopeful tone. Every few years, significant breakthroughs in medicine do…
Strategies for Managing Inhibitor Development in Hemophilia
The therapeutic use of factor replacement therapy—the mainstay of hemophilia treatment—is impeded by a stubborn problem that can sometimes drastically reduce its efficacy: the development of inhibitors to the coagulation factors administered. Why does factor replacement therapy go swimmingly well in many patients with hemophilia, yet for some patients, inhibitors develop almost immediately? The short…
Meeting Coverage
- Loading...
Loading...
Recent Quizzes- 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
- Test Your Knowledge About the Symptoms of PAH March 3, 2022
- Test Your Knowledge About the Symptoms of Hemophilia February 9, 2022
Loading... 
Loading...