Latest News
Lower Dose of Cabozantinib Fails to Meet Primary Endpoint in MTC Trial
A Rare Case of Cold Agglutinin Disease Induced by COVID-19
BRD9 as a Novel Therapeutic Potential for GIST
SERPINA1 Genotypes Pose Different Risks for Liver Pathology
Alagille Syndrome May Alter the Microvasculature
Dr. Naftali Kaminski Discusses New Consortium for Pulmonary Fibrosis
Local Anesthesia Better for Pregnant PAH Patients
Potential New Biomarker Could Predict NMOSD Prognosis
Direct-to-Consumer Genomic Testing May Help Identify AATD
Case Report: A Rare Co-occurrence of ALGS and Von Willebrand Disease
Male Sex Associated With Poor Prognosis in GIST
PPIs Associated With Increased Risk of Developing Autoimmune Diseases
FDA Chief Janet Woodcock: ‘We Have a Long Way to Go’ in Rare Disease
Repository for DMD and BMD Introduced at NORD Breakthrough Summit
Hospitalization Rates Stable, But Diabetes Less Common, Among PAH Patients
GIST, Cholangiocarcinoma Groups Work to Educate Clinicians on Rare Cancers
Study Suggests PAH Patients Need Special Attention During Intubation
New Mechanism Shows MCT Treatment May Benefit LCFAOD Patients
The Use of Data Science Could Accelerate Rare Disease Research
Latest Features
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New Venture Aims to Improve Diagnosis, Treatment of Pulmonary Fibrosis
Three Lakes Foundation, Yale University, and the University of Pittsburgh are joining forces to speed up the search for treatments for pulmonary fibrosis. -
The Association Between Cold Agglutinin Disease and Thromboembolic Events
There are a few things that physicians do their best to avoid when a patient is under their care. One of the most basic things to check, for example, is the patient’s allergy status to avoid needless drug reactions that can sometimes be life-threatening. Another thing that is always on a physician’s mind is the… -
A Look at the Genetic Landscape in Pompe Disease
In Pompe disease, the mutational landscape and the amount of AAG activity determine the disease severity, tissue impairment, and age of onset. -
How Knowledge of Fatty Acid Oxidation Guides Treatment of LCFAOD
How does our comprehension of fatty acid oxidation impact the management of long chain fatty acid oxidation disorder? -
Guidelines for the Immunosuppressive Treatment of Acquired Hemophilia A
Researchers issued updated recommendations for the treatment of acquired hemophilia A based on new evidence. -
Therapeutic Frontiers in Managing Spinal Muscular Atrophy Type 1
The thrust of medical progress in treating SMA type 1 is now to bring it into the realm of rare but manageable diseases. -
The Role of Cellular Senescence in Idiopathic Pulmonary Fibrosis
Cellular senescence contributes to the macromolecular damage and metabolic dysregulation seen in many diseases, including IPF. -
The Impact of LAL-D on Bone Growth and Development Comes to Light
We know the classical symptoms of LAL-D, but what does it have to do with bone health? We explore this question and more. -
Favorable Outcomes Seen With Lung and Liver Transplantation in AATD
A review article reveals that lung and liver transplantation have favorable outcomes in AATD patients with end-stage lung and liver diseases.
Latest Patient Perspectives
Medullary Thyroid Cancer Patients Need Each Other To Improve Treatment Outcomes
With a rare disease such as medullary thyroid cancer (MTC), finding support can be difficult.
When Medicine is Needed for Medicine in DMD Treatment
I was 10 years old when I began a daily regimen of 30 mg of prednisone taken orally. This is how I’ve started each day for the last 17 years.
Healthy Living With AATD Requires Discipline, Knowledge
There are several things I would have done differently after my alpha1-antitrypsin deficiency (AATD) diagnosis. I did have a great doctor, but there were certain things I wish I had realized were so important. I once heard someone else with AATD say: “Nothing about respiratory illness is straightforward.” While this is true, so much can…
Why Some Tests for DMD Treatment Make Me Feel Like Just a Number
As a patient with Duchene muscular dystrophy (DMD), I understand how vital testing is in the care process since this disease impacts several muscle systems.
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
A Heart-Centered View of Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy characterized by progressive muscle weakness and atrophy. Though most investigations undoubtedly focus on the muscle, increasing evidence suggests that cardiac malfunction is a relevant cause of morbidity and mortality in patients with DMD. "With advanced DMD management and ventilatory support widely applied from 1990s,…
Genome Sequencing Increases Diagnostic Accuracy in Alagille Syndrome
In a way, the COVID-19 pandemic has given the world a crash course in basic medical practices and terminology. For example, most of the world now knows how to wear a surgical mask correctly, and medical words such as “quarantine” and “pulse oximetry” have become ingrained in our collective vocabulary. Another pair of terms that…
The Promising, Yet Challenging, Role of Immunotherapies in GIST Research
The immune system is elegantly designed to help our bodies fight against pathological foreign agents; without it, we would all die of the most minute of infections. Although we do know a lot about how our immune system works, we still do not know enough to create immunotherapies that should in theory eliminate the diseases…
Artificial Intelligence Can Aid in Cholangiocarcinoma Diagnosis and Management
A problem that physicians face today is that the world of medicine, inspiring and innovative though it is, can be rather limiting. Physicians and medical researchers talk to other physicians and medical researchers but may have little appetite for wandering too far from the medical fraternity. Therefore, advancements in science and technology in nonmedical fields…
Exploring Noninvasive Imaging in Intrahepatic Cholangiocarcinoma
There is an inside joke within the medical fraternity about the enthusiasm that surgeons exude in favor of invasive treatment during multidisciplinary meetings. The characterization is that while invasive treatment is usually seen as a last resort by physicians that belong to other disciplines, surgeons often see it as first-line therapy. Unfair (or perhaps sometimes…
Reviewing the Benefits of Triheptanoin in Long Chain Fatty Acid Oxidation Disorder
Tripheptanoin (Doljovi®) is a recently approved drug used to treat inborn errors of metabolism, including long chain fatty acid oxidation disorder (LCFAOD). Approval of the drug caused quite a stir because it was the first medication to target LCFAOD at a biological level. The mainstay of LCFAOD treatment remains avoidance of fasting, as well as…
Meeting Coverage
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Recent Quizzes- 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
- Test Your Knowledge About the Evaluation of Patients With LCFAOD September 22, 2021
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