Latest News
Updated Guidelines Issued for the Assessment of Cardiac Amyloidosis
Intrabody Could Mediate Mutant Huntingtin Degeneration
Can Prophylaxis Type in Hemophilia A Influence the Risk of Developing Inhibitors?
Kaufman Brief Intelligence Test Can Be Useful in PWS
Pemigatinib May Be More Costly Than Chemotherapy in CCA Care
Novel Nomogram May Predict CCA Recurrence After Surgery
Melatonin Production Dysregulated in HD
Hemophilia Death Rates in Males Improved but Are Higher in Blacks Than in Whites
HRQoL Improved With Valoctocogene Roxaparvovec in Severe Hemophilia A
Homozygous TTR Gene Variant Carriers Tend To Be Diagnosed Earlier and Die Younger
Serum Neurofilament Light Chain May Be a Biomarker for hATTR
New Treatment Approach May Be Effective in MG Care
Phase 3 Study to Assess Maximum-Dose Luspatercept in Low-Risk MDS
Serum Immunoglobulin G May Be a Prognostic Marker in MG
Immune Checkpoint Inhibitors Associated With MG
New Study Supports Targeted Treatments for Myeloid Neoplasms
Case Explores Difficulties of Respiratory Failure Management in MG
Improved Survival Seen With Early RBC Transfusion in Low-Risk MDS
Telemedicine Enhances Doctor-Patient Interactions in Treating HAE
Latest Features
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Newborn Screening Can Lessen the Toll of Rare Disease on Patients and Families
A new study issued in time for Newborn Screening Awareness Month details the hidden costs of delayed diagnosis of rare diseases. -
Stem Cell Transplant May Boost Long-Term Survival for Patients With SCD
September marks National Sickle Cell Awareness Month, and a study on long-term survival for patients with SCD who have had stem cell transplants offers hope. -
Mereo BioPharma Plans Phase 3 Study of Alvelestat for Treatment of Severe AATD
Alpha-1 antitrypsin deficiency—a pulmonary disease far more common than cystic fibrosis—has not seen a new therapy in more than a decade. -
Researchers Evaluate the Safety and Efficacy of Rituximab in Treating NMOSD
Researchers assess the safety and efficacy of rituximab in treating neuromyelitis optica spectrum disorder. -
Rise in Basal Serum Tryptase Levels: Possible Differentials for SM
“Increased basal serum tryptase level is an important diagnostic parameter and clinical biomarker in mast cell disorders,” Michael Arock, PharmD, PhD, wrote in Revue Francaise d’Allergologie, of which systemic mastocytosis (SM) is a subtype. Although an increased basal serum tryptase level is an important signpost to the possibility of SM, it can also point to… -
Mounting Evidence Suggests BRCA Mutations May Increase the Risk of CCA
BRCA mutations more commonly associated with breast and ovarian cancer may also be a risk factor in cholangiocarcinoma, researchers say. -
Assessing the Gray Areas in Our Understanding of ATTR-CM
Despite the wealth of information we now possess regarding transthyretin-mediated amyloid cardiomyopathy (ATTR-CM), certain gray areas remain, as touched on by Porcari and colleagues in Frontiers in Medicine. ATTR-CM is driven by the abnormal deposition of misfolded and/or cleaved transthyretin protein throughout the body and may be hereditary in nature or acquired. Diagnosing ATTR-CM has… -
Cholangiocarcinoma Gastric Metastasis May Resemble GIST
Researchers presented the case report of an individual with intrahepatic cholangiocarcinoma who developed gastric metastasis. -
Liver Transplantation in Liver Failure Associated With Wilson Disease
Liver transplantation may be necessary in patients with Wilson disease who have acute liver failure and hepatic encephalopathy.
Latest Patient Perspectives
Why Do I Feel so Tired all of the Time?
What does sleep have to do with Friedreich ataxia (FA), you ask?
Common Mistakes While Living With Pompe Disease
I don’t want to say we necessarily make mistakes living with Pompe disease, but we can tend to get comfortable and neglect essential things.
The Roots of My Experience With HDFN
My daughter developed a rare blood disorder known as hemolytic disease of the fetus and newborn (HDFN) due to immunization of my RH-negative blood type.
The Value of Sharing My ITP Story
When I first decided to become open about my immune thrombocytopenia (ITP) journey, it was scary.
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
Research Explores the Role of Neuroinflammation and Glial Cells in FA
Recent research suggests that neuroinflammation could be a significant factor in the pathophysiology of Friedreich ataxia (FA), a disorder for which there is no cure. Previously underestimated, neuroinflammation, particularly in the cerebellum and spinal cord, is now recognized to have crucial implications for the disease's mechanisms and potential treatments. "The absence of an effective treatment for…
Using Smartphones to Track Disease Progression in Myasthenia Gravis
When the first smartphone was introduced a decade and a half ago, there was much excitement at its novelty and the new parameters of its function. Over the years, smartphones have become slowly integrated into daily life, with users depending on apps for entertainment, navigation, commerce, and telemedicine. In 2023, the smartphone era has truly…
The Role of Pulmonary Rehabilitation in Improving Clinical Outcomes
Pulmonary rehabilitation has been a core treatment for various pulmonary ailments such as cystic fibrosis, idiopathic pulmonary fibrosis (IPF), and chronic obstructive pulmonary disease (COPD) for decades. Pulmonary rehabilitation is a simple, noninvasive way to address a decline in lung performance. It can be performed in a home-based setting, reducing the patient burden in healthcare…
Researchers Explore the Prognosis of Patients With Thyroid Cancer
The medical community and the population it serves should be under no illusion of the poor prognosis of a patient with metastatic cancer; it is, unfortunately, more likely to result in early death than not. With this clear-eyed view of the limitations of medicine and the ruinous potential of an unwelcome diagnosis, we shall look…
Understanding the Impact of Generalized Pustular Psoriasis on Quality of Life
Dermatological diseases such as generalized pustular psoriasis (GPP) often result in considerable distress among patients due to their outward visibility. Such dermatological diseases burden the patient in two ways: the disease itself, which needs treating, and self-perception and self-esteem issues that can result in considerable psychiatric pathology. There is a dichotomy in medicine when it…
A Closer Look at the Relationship Between AAV and HIV
Medical literature has described the concurrent presence of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) and human immunodeficiency virus (HIV) infection in a single patient, although these cases are exceedingly rare. HIV care has undergone a revolution of sorts in recent decades, especially with the introduction of pre-exposure prophylaxis, which reduces the risk of HIV infection…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Diagnosis of Huntington Disease September 27, 2023
- Test Your Knowledge About the Complications of Myelofibrosis September 27, 2023
- Test Your Knowledge About the Clinical Features of MDS September 26, 2023
- Test Your Knowledge About the Comorbidities of HAE September 25, 2023
- Test Your Knowledge About Nutrition in Alagille Syndrome September 22, 2023
- Test Your Knowledge About the Epidemiology of Friedreich Ataxia September 21, 2023
- Test Your Knowledge About the Genetics of Huntington Disease September 20, 2023
- Test Your Knowledge About the Complications of Hemophilia September 19, 2023
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