Latest News
Glofitamab Granted Priority Review by FDA for Treatment of DLBCL
Crohn’s Disease Complicated by PNH: A Case Report
Higher Dosages of IV Epoprostenol Needed for Clinical Benefit in Severe PAH
New Potential Biomarker for DLBCL Identified
Liver From SARS-CoV-2 RNA-Positive Donor Successfully Transplanted in Child With ALGS
New Experimental Treatment for Aggressive B-Cell Lymphoma Cleared by FDA
Sanofi’s Sutimlimab Approved by FDA for CAD Patients Without Recent Blood Transfusions
Exploring the Laparoendoscopic Approach to Manage GISTs
Enzyme Replacement Therapy May Stabilize Pompe Disease Gene Expression
Study Identifies Novel Genetic Mutations Contributing to the Development of AATD
Novel Technology Could Help Detect Cholangiocarcinoma Early
PC4 Promising Therapeutic Target in Refractory DLBCL
Molecular Structure of Mutant Protein Causing Jokela Type SMA Revealed
Ravulizumab Offers Benefits in PNH, but Hemolysis Still Possible
A Case Study of Cold Agglutinin Disease Following Varicella Infection
Surgery Is Safe in Most Elderly Patients With MG With Close Monitoring
Nusinersen May Improve Nutritional Status in Patients With SMA
Report Demonstrates Inheritance of His90Asp Variant Among People With hATTR
Machine Learning-Based Diagnostic Model Shows Potential in IPF
Latest Features
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Alpha-1 Foundation Strives to Accelerate Development of New AATD Treatments
Scott Santarella spoke with Rare Disease Advisor about his new leadership position at the Alpha-1 Foundation based in Miami, Florida. -
The Dangers of Delayed Diagnosis in Acquired Hemophilia A
Excessive bleeding in patients with undiagnosed acquired hemophilia A can be lethal. -
Existing Immunosuppressive Strategies for Treating Myasthenia Gravis
Myasthenia gravis is a neuromuscular disorder driven by autoimmunity against the postsynaptic neuromuscular junction of skeletal muscles. The clinical manifestations of myasthenia gravis are broad, but generally it can be characterized as being fluctuating, chronic, and oftentimes carrying a poor prognosis. “[Myasthenia gravis] impairs [neuromuscular junction] transmission and can manifest in a spectrum ranging from… -
Treating Advanced Medullary Thyroid Carcinoma
While surgical resection is not an option for patients with metastasized MTC, newer therapies may prolong survival and improve life. -
The Evolving Face of Cystic Fibrosis Care
While there is still no cure for cystic fibrosis, various advancements in the way the disease is treated have been made. -
Omidubicel Shows Promise as Replacement for Umbilical Cord Blood in Stem Cell Transplants
Gamida Cell is gearing up to begin sales of omidubicel from Israel to US hospitals for use in stem cell transplants, pending FDA approval of the therapy. -
Targeting DNA Damage Response as a Therapeutic Strategy in CCA
Targeting DDR as emerged as a promising strategy for developing cancer-specific therapies. Here, we discuss the use of DDR inhibitors in CCA. -
The Dangerous Implications of Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal nocturnal hemoglobinuria (PNH) is a condition that is poorly defined and difficult to diagnose. Characterized by episodic complement-mediated hemolysis, its classic presentation is the sudden, episodic, and night-time occurrence of hemoglobin in the urine. The most common symptom shared by patients with this disease is debilitating fatigue. According to the International Paroxysmal Nocturnal Hemoglobinuria… -
Strategies for Diagnosing and Treating Hereditary Transthyretin Amyloidosis
The accurate diagnosis and multidisciplinary treatment of hereditary transthyretin amyloidosis are central to improving patients’ quality of life.
Latest Patient Perspectives
From a Push Wheelchair to a High-Tech Power Ride
Our columnist, who has DMD, reflects on how wheelchairs have changed over the years.
The Compromised Immunity That Comes With Cold Agglutinin Disease
I am always cognizant of the fact that I can’t get cold, and that I should avoid getting sick, but I don’t think of myself as immune-impaired.
My Diagnosis Story and Life Ahead With hATTR
My journey to a diagnosis of hATTR amyloidosis was long, confusing, and wrought with uncertainty.
My Path From a Pompe Diagnosis to Taking Control of My Wellbeing
I was first diagnosed in 2016 with Pompe disease, a rare disease that causes breakdown and weakness in my muscles.
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
How Can Adherence to Imatinib Therapy in Patients With GIST Be Improved?
An insidious problem facing clinicians worldwide is patient nonadherence to the treatment regimen prescribed. In these situations, even diseases that have curative potential are at risk of further deterioration if patients refuse to take their medications as prescribed. Scientists are now realizing just how big of an issue nonadherence is. There are a few hypotheses…
Treating Lysosomal Storage Diseases: More Options at Hand but Challenges Remain
With the recent evolution of enzyme therapy for lysosomal storage diseases, patients with lysosomal acid lipase deficiency (LAL-D) or Pompe disease (PD) now have more therapeutic options for managing the disease and improving their quality of life. Many promising others are on the horizon. However, current enzyme therapies have limitations, including short intracellular half-lives that…
The Relationship Between Sickle Cell Disease and Acute Myeloid Leukemia
Acute myeloid leukemia is a type of cancer that involves stem cell precursors of the myeloid lineage cells, platelets, and white blood cells, with the exception of B and T cells. It is mainly driven by genetic variations that cause neoplastic changes and clonal proliferation. A small percentage of cases can be traced to chemotherapy…
Paroxysmal Nocturnal Hemoglobinuria: The Great Impersonator
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by chronic intravascular hemolysis, which is brought about by the continual activation of alternative pathways of the complement system—an integral part of the innate immune system. This disease is notoriously invasive, and the rate of correct diagnosis upon first encounter is low. Nevertheless, the past few years have seen…
Treating Cardiac ATTR: Current Strategies and Challenges
For many years, the treatment of cardiac hereditary transthyretin amyloidosis (hATTR) relied on liver transplantation to remove the source of aberrant transthyretin (TTR). However, several studies have shown that liver transplantation provided an incomplete cure. Hence, combined liver/heart transplantation has emerged as an alternative. In addition to obvious transplant-associated limitations, such as the dependence on…
Life Aspirations Explored in Patients With DMD
It is unfortunate that the prevailing view on chronic illness is that it simply “happens” to someone, and that the best one can do is to cope with the difficulties attached, comply with treatment, and hope for the best. This is perhaps exacerbated by medical language; a patient is said to have been “diagnosed with”…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the History of Myasthenia Gravis January 31, 2023
- Test Your Knowledge About the Complications of SMA January 30, 2023
- Test Your Knowledge About Therapies for PNH January 25, 2023
- Test Your Knowledge About Gene Therapy for Pompe Disease January 24, 2023
- Test Your Knowledge About the Prognosis of Cholangiocarcinoma January 24, 2023
- Test Your Knowledge About the Risk of Complications in MG January 24, 2023
- Test Your Knowledge About Therapies for Hereditary Angioedema January 23, 2023
- Test Your Knowledge About the Guidelines for Myasthenia Gravis January 23, 2023
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