Latest News
Phase 1 Trial Results Suggest Possible Functional Cure for Sickle Cell Disease
Inhibition of WNK1 Had Beneficial Effects in PAH Model
Recommendations for Treating CAD in Patients With Chronic Lymphocytic Leukemia
New Prognostic Marker of Intrahepatic Cholangiocarcinoma Found
Nusinersen Improves Fine Manual Dexterity in Patients With SMA Type 2
New Closure Technique After GIST Surgery Greatly Reduces Operation Time
Investigational Dual Therapy Not Superior in Late-Onset Pompe Disease Trial
An Interview With Muscular Dystrophy Association President Donald S. Wood
New Robust Probe Could Detect Esterase in Wolman Disease
NeoSeq Genomic Screening Test Shows Significant Advantages for Newborns
Phase 3 Trial to Assess Apitegromab as Add-On Spinal Muscular Atrophy Treatment
DASH Diet Can Yield Significant Benefits for Adolescents With Hemophilia
Fibrosed Spheres Observed in Patient During Phase 1/2 Trial for Hemophilia A
Statin Therapy Shows Consistency With IPF Survival Data
Lysosomal Acid Lipase Activity May Be Affecting NAFLD Pathogenesis
Potential IPF Treatment Cudetaxestat Posts Positive Phase 1 Results
New Assay Developed Shows Accurate Measure of Low AAT Activity Levels
Spindle Cell Variant of MTC Can Be Mistaken for Other Lesions
Proinflammatory Diets May Increase Risk of Demyelination, a Precursor to MS
Latest Features
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Newly Approved Therapies Bring Hope to Patients With NMOSD
The Guthy-Jackson Charitable Foundation and the Siegel Rare Neuroimmune Association are racing to find a cure for neuromyelitis optica spectrum disorder (NMOSD). -
MDA 2022 Conference to Focus on Promising Therapies for SMA, DMD
Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) will take center stage early next year at the first in-person annual gathering of the Muscular Dystrophy Association (MDA) since March 2019. The 2022 MDA Clinical & Scientific Conference, set for March 13-16 in Nashville, Tennessee, is expected to attract between 700 and 800 people in… -
Pharmacokinetic-Guided Dosing Valuable in Hemophilia, Other Diseases
We explore an important tool in determining the best drug dosing for patients with hemophilia, as well as in other diseases. -
The Potential Roles of Extracellular Vesicles in AATD and IPF
Extracellular vesicles (EVs) have been implicated in the pathogenesis of a variety of chronic respiratory diseases, including alpha-1 antitrypsin deficiency (AATD) and idiopathic pulmonary fibrosis (IPF). Their role in disease progression makes them an interesting target for diagnostic and therapeutic interventions. The multiple potential functions of EVs in these diseases are discussed by Purghè et… -
The Growing Role of Antisense Oligonucleotides in MS Treatment
We explore the role of ASOs in MS treatment today, and why combination therapy may produce better clinical outcomes. -
The State Of Imaging Modalities Available for Visualizing Neuroendocrine Tumors
We explore the arsenal of imaging modalities available for physicians to visualize neuroendocrine tumors such as MTC. -
Assessing the Risk Factors for Relapse in Patients With NMOSD
In the management of any disease in which relapses are known to occur, it is important to identify the risk factors for their occurrence, as well as any other factors that might influence their severity. In this article, we will be assessing the risk factors for relapse in patients with neuromyelitis optica spectrum disorder (NMOSD)… -
The Challenges of Managing Advanced or Metastatic Cholangiocarcinoma
What treatment options are available once CCA is nonresectable? We attempt to answer this question using 2 literature reviews. -
Exploring Bone Pathology in Patients With ALGS
In this article, we will be exploring one of the less talked about symptoms of Alagille syndrome (ALGS): bone pathology.
Latest Patient Perspectives
Multiple Sclerosis Patients Need Help Managing Constant Stress
People living with multiple sclerosis (MS) live under the stress of trying to not live under stress.
Nutrition, Exercise, and Alternative Therapies Not Always the Answer for MTC Patients
Shortly after my medullary thyroid cancer (MTC) diagnosis, I made many changes to my lifestyle.
Reflecting on My Alpha-1: From Diagnosis to Daily Life
Alpha-1 antitrypsin deficiency (AATD) columnist Alyssa Gloor reflects on her journey from diagnosis to treatment and her life today.
Pompe Disease Made Me a Jack of All Trades
For many, getting a rare disease diagnosis signals that most of the battle is already won. Sound strange?
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
Facing Gender Bias, Women With Hemophilia Call for Equal Attention
Hemophilia is an inherited blood disorder traditionally thought to affect men only. However, it is now known that women may also suffer from the disease and even experience severe symptoms. Despite the current knowledge, women with hemophilia still encounter gender bias in medical diagnosis and treatment. "Females with hemophilia may go undiagnosed for years because…
The Impact of Novel SMA Therapies on Respiratory Function
Arguably the aspect of novel therapies for spinal muscular atrophy (SMA) that deserves the most attention is their impact on respiratory muscles—in blunt terms, whether they allow patients to continue to breathe without external support. Although progressive muscle wasting and the eventual loss of mobility are the most prominent characteristics of SMA, it is the…
Gene Therapy in DMD: Why Is It so Difficult to Achieve a Cure?
Duchenne muscular dystrophy (DMD) is caused by loss-of-function variants in the dystrophin gene. Therefore, genetic approaches that aim to target the affected muscle cells and restore the disrupted reading frame of the dystrophin gene have curative potential. So, we know the defective gene that underlies DMD pathology and we live in an era of great…
An Appraisal of What We Know and Do Not Know About AATD
In medicine, as in life, it is important to take stock of what we know and what we do not know. Oprah Winfrey, the prominent US talk show host, is renowned for asking her guests the question, “What do you know for sure?” It is a potent question because in answering it honestly, the person…
Exploring MTC in Children: Diagnosis, Genetic Screening, and Prophylactic Thyroidectomy
In this article, we will discuss medullary thyroid carcinoma (MTC) as it relates to children, with a particular focus on diagnosis and genetic screening. We will base our article on 2 brilliant studies by 2 groups of scientists: Kiriakopoulos and colleagues, who wrote about the current state of play with regards to MTC in children…
Reflecting on a 5-Year Journey to My MTC Diagnosis
Editor's Note: In this Q&A, Patient Perspectives columnist Christine Pudel, RN, answers questions from her editor. A 30-year-old wife, mother to a son, and a registered nurse, Christine was diagnosed with medullary thyroid cancer (MTC) in 2016 and has undergone 2 surgeries, as well as radiation therapy. Her columns uniquely capture a life with MTC…
Meeting Coverage
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Recent Quizzes- 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
- Test Your Knowledge of the Complications of LAL-D September 28, 2021
- Test Your Knowledge About the Prognosis of Patients With AATD September 22, 2021
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