Latest News
Muscle MRI May Be a Useful Biomarker for LOPD Diagnosis in Children
Proposed Spectrometry Method May Detect PD Biomarkers
Electronic PRO System Shows High Feasibility and Performance in Patients With PNH
Rare Case of NMOSD With Peripheral Nerve Damage Reported
Interim PET/CT Parameters Could Help With DLBCL Prognosis
Photodynamic Therapy Plus Chemotherapy May Improve Survival in ECC
Study Sheds Light on How Tumor Cells Escape the Immune System in DLBCL
What to Consider When Selecting a Drainage Technique for CCA
Is the Current Node Staging System for CCA Enough?
New Research Demonstrates the Role of Immunoglobulin M in Autoimmune Disease
Caregivers of People With hATTR Report Anxiety, Stress, and Sleep Problems
Potential Link Between Genotype and Phenotype in TFP Deficiency Identified
Concomitant Eculizumab and IST May Be Safe and Effective in Patients With PNH
Healthy Pregnancy Outcomes Possible in Patients With Autoimmune Hemolytic Anemia
Proximal Complement Inhibitors Could Address Limitations in PNH Treatment
MG Treatment Schemes in the US May Have Gaps
MG-Medication Interaction Tool Reduces Prescription of High-Risk Medication
Disease Severity Determines Quality of Life in MG
Study Supports the Use of Efanesoctocog Alfa for Bleeding Prevention in Hemophilia
Latest Features
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Immunotherapy May Lead to Durable Remission in DLBCL
The need for therapeutic options capable of providing durable remission and long-term survival for patients with high-risk DLBCL has staggered. -
Comparing Subcutaneous and Intravenous Ravulizumab in the Treatment of PNH
Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by the pathological activation of the terminal complement pathway, which causes intravascular hemolysis and thrombosis. Untreated, it is associated with a poor health-related quality of life, increased hospitalizations, and a greater risk of early death. The mainstay PNH treatment is eculizumab (Soliris®), a complement inhibitor that targets the terminal… -
Carnitine Palmitoyltransferase Deficiency May Be Identified in Newborn Screening Tests
There is a lack of scientific consensus on whether CPT II deficiency should be offered as part of a newborn screening program. -
Patient Perspectives May Be Beneficial in Myasthenia Gravis Care
Patient perspectives in myathenia gravis care is important as patients report secondary manifestations that affect their quality of life. -
The Unseen Mental Health Burden of Young Patients With Hemophilia
Studies indicate that young patients with hemophilia often carry a notable mental health burden, which should be a concern of all. -
New Chief Takes the Helm at the Life Raft Group as GIST Research Continues to Expand
The Life Raft Group, which advocates for people with gastrointestinal stromal tumor (GIST), has a new executive director: Sara Rothschild. -
Can Physical Activity Improve Outcomes in Patients With Cystic Fibrosis?
As medicine marches forward in increasingly unexplored territory, a significant number of physicians are advocating for a return to basics and the rediscovery of treatment modalities that are accessible to individuals in most parts of the world. In cystic fibrosis, physicians and physiotherapists alike are once again highlighting the benefits of physical activity and exercise… -
Understanding the Impact of Immune Thrombocytopenia on Quality of Life
Immune thrombocytopenia is an autoimmune disorder characterized by isolated thrombocytopenia resulting from impaired platelet production and increased platelet destruction. The chief goal of treatment is to stop any active bleeds and to prevent future ones from occurring. The main therapies used in this condition are corticosteroids and additional intravenous immunoglobulin in cases of active bleeding. … -
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.
Latest Patient Perspectives
Knowing the Difference Between CAD Symptoms and a Heart Attack
As you learn to live with CAD, you become used to the occasional rapid heart rate, breathlessness, and fatigue, depending on your level of anemia.
Living With hATTR Can Be a Financial Nightmare
Living with hereditary transthyretin amyloidosis (hATTR) has brought significant financial burdens to my world.
The Importance of Self-Care While Living With Pompe
Living with Pompe disease has always been a challenge to show your best.
What Cleaning House Is Like for Me as an AATD Patient
As I have aged and developed more symptoms of AATD, I have begun to realize that the cleanliness of my home is important.
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
Is Gut Microbiota Involved in Pulmonary Arterial Hypertension?
Pulmonary arterial hypertension (PAH) is primarily associated with abnormal changes to the pulmonary vasculature, which eventually leads to irreversible right heart failure. Pathologists characterize endothelial dysfunction and pulmonary arterial fibrosis as the main drivers of vascular stiffening. Over the last few years, scientists have painstakingly put together a picture of the network of pathological processes that…
The Dangers of Delayed Diagnosis in Acquired Hemophilia A
Acquired hemophilia A differs from classical hemophilia A in that it occurs in individuals without a previous history of bleeding. Both diseases involve neutralizing autoantibodies acting against coagulation factor VIII (FVIII). However, in acquired hemophilia A, patients typically present with an isolated prolonged activated partial thromboplastin time (aPTT) that is later discovered to be due…
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
The history of medicine, stretching as far back as when our human ancestors first roamed the earth, is a poignant volume of how far we have come, and how far we have yet to go. Take cancer, for example. In the past, when life expectancy was drastically lower, cancer was seen as less of an…
The Evolving Face of Cystic Fibrosis Care
I distinctly remember whispers when I was in medical school about potentially groundbreaking treatments in the works that might finally make cystic fibrosis an illness of the past. Regrettably, these predictions have not manifested; cystic fibrosis is still very much a condition that carries a high morbidity and mortality rate. It is tempting to desire…
Targeting DNA Damage Response as a Therapeutic Strategy in CCA
Cholangiocarcinoma (CCA) is an aggressive type of cancer with limited therapeutic options available. When possible, patients are offered surgical resection, whereas unresectable cases are managed with adjuvant treatment. Chemotherapy or radiotherapy are usually used to increase the chances of recovery and improve patient's quality of life and survival. However, despite the recent advances, the survival…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Epidemiology of hATTR February 6, 2023
- Test Your Knowledge of MTC Patient Education February 3, 2023
- Test Your Knowledge About the Clinical Features of NMOSD February 2, 2023
- Test Your Knowledge About the Complications of Wilson Disease February 2, 2023
- Test Your Knowledge About Experimental Therapies for Systemic Mastocytosis February 2, 2023
- 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
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