Latest News
Alternative Tests Can Accurately Assess Neurodevelopmental Disability in DMD
A Multidisciplinary Diagnostic Approach May Be Needed for Optimal Management of SM
A Novel Treatment Approach for Acute Relapses of NMOSD Shows Promise
Markers of Right Ventricular Dysfunction in PAH Identified
Study Testing Cholesterol-Lowering Drug in ALGS Patients Now Recruiting
A History of Hepatobiliary Abnormalities on Ultrasound May Be Linked to CCA
Molecular Research on SMN2 Gene Yields Insights on Milder Phenotypes of SMA
Living With SM Impacts Relationships and Emotional Status Along With Physical Health
Elevated Preoperative CONUT Score May Predict Postoperative Recurrence of GIST
Study Shows Sequential Combination Therapy Should Be Recommended for PAH
Preoperative Evaluation and Stability Are Key to Successful Anesthesia in ALGS
Biomarker Processing for CCA Best Conducted in a Multidisciplinary Setting
Novel Imaging Technique Shows Promise for Diagnosing Abdominal Complications in CF
High Cold Agglutinin Titers Reported in Two COVID-19 Case Reports
New Prognostic Biomarker of Cholangiocarcinoma Identified
Intravenous Gene Therapy Efficient in Mouse Model of Pompe Disease
CT and MRI Findings Can Differentiate Between Intrahepatic CCA and HCC
Acid α-Glucosidase Inhibitor Shows Promise in the Treatment of Pompe Disease
Experimental LCFAOD Therapy REN001 Appears Safe and Well Tolerated in Phase 1 Trial
Latest Features
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Patient-Focused Management of Systemic Mastocytosis
The best way to manage systemic mastocytosis is to involve patients in every step of the treatment process. -
Understanding Bone Disease Associated With Lysosomal Acid Lipase Deficiency
Bone pathology can occur as a result of lysosomal storage diseases such as lysosomal acid lipase deficiency and Gaucher disease. -
Considerations for Treating Women With HAE: Lessons From a Puzzling Type 3 Case
There are a few considerations that physicians need to make when caring for female patients with HAE-C1INH type I or II or HAE-nl-C1INH. -
A Rare Co-occurrence of Alagille Syndrome and von Willebrand Disease
In the South African Journal of Child Health, Dempster and colleagues detail the case of a patient who was simultaneously diagnosed with 2 rare disorders: Alagille syndrome and von Willebrand disease. A 17-year-old female patient presented with hypochromic anemia and splenomegaly. She had been diagnosed with Alagille syndrome in infancy due to having characteristic features… -
The Multifaceted Challenges of Treating GIST in Pediatric Patients
There are a few major hurdles physicians have to navigate when treating pediatric patients with gastrointestinal stromal tumors. -
‘Fundamental Flaws’ Plague Drug Development Process, Ultragenyx CEO Dr. Emil Kakkis Says
Ultragenyx CEO Dr. Emil D. Kakkis said federal regulators should focus more on biomarkers and less on clinical endpoints when it comes to drug approvals. -
The Feasibility of Screening for LAL-D in At-Risk Populations
In lysosomal acid lipase deficiency (LAL-D), the activity of the lysosomal acid lipase enzyme is substantially reduced. This causes an accumulation of cholesteryl esters and triglycerides within the lysosomes of various organs, primarily the liver, spleen, and heart. The pathological accumulation of lipids in these organs drives various cellular damages. Splenomegaly can occur as lipids… -
Techniques for Detecting and Monitoring Sickle Cell Disease
Various diagnostic techniques for sickle cell disease are in play and others are being refined for future use. -
The Promise of Stem Cell Research in the Treatment of DMD
We explore why Duchenne muscular dystrophy is a disease that can benefit tremendously from advances in stem cell research.
Latest Patient Perspectives
CAD Patients Should Beware of Family History and Lymphoma
Cancer is one of those words no one wants to hear. Unfortunately, it runs rampant in my family on both sides.
Maintaining a Healthy Weight With Pompe Is a Constant Struggle
You can be diagnosed with late-onset Pompe disease as early as 12 years old. I was diagnosed at 13, just as I was starting middle school.
Finding the Good in Being a Rare Disease Patient
It’s easy to discuss and concentrate on the lack of experiences one misses out on while living with a rare disease such as spinal muscular atrophy (SMA).
Dos and Don’ts for HCPs When Treating a Cancer Patient
For HCPs, I think it might be helpful to point out both the dos and the don’ts from the perspective of someone living with medullary thyroid carcinoma (MTC).
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
Alagille Syndrome May Cause Significant Cardiac Anomalies, Even Without Liver Involvement
Alagille syndrome, a genetic disorder inherited in an autosomal dominant manner, typically involves pathology in multiple organs, including the liver, heart, skin, and bone. Liver disease usually receives the most attention because unresolved liver disease often requires liver transplantation, but cardiac disease is also a significant part of the Alagille syndrome phenotype. “Complex cardiac disease…
Managing Cold Agglutinin Disease and Other Hemolytic Anemias
Hemolytic anemia is characterized by the premature death of red blood cells, which is often caused by antibodies attacking them. If the autoantibodies are produced by the host, the disease can be labeled autoimmune hemolytic anemia—one type of which is cold agglutinin disease. “Autoimmune hemolytic anemia has always been considered the simplest and most scholastic…
The Relationship Between SMA, Adiposity, and Fatty Acid Metabolism Defects
The current state of our quest to better understand spinal muscular atrophy (SMA) has led scientists to consider the non-neurological pathologies attributable to survival motor neuron (SMN) deficiency. An area that is the subject of intense research is the relationship between SMA and fatty acid oxidation metabolism defects. “The current therapeutic SMA landscape is at…
The Management of MS Can Be Like a High-Stakes Game of Chess
What goes on inside the head of doctors when deciding on the best course of treatment for a patient with multiple sclerosis? In Therapeutic Advances in Chronic Disease, Inojosa and colleagues likened the decision-making process to a highly strategic game of chess, with the ultimate aim being to “checkmate” the disease. “In current times with…
Diagnosing and Treating Pulmonary Arterial Hypertension in Geriatric Patients
Geriatric medicine is undergoing a quiet revolution as physicians move away from a more palliative mindset and toward the goal of improving quality of life and promoting longevity. Part of this revolution has to do with changing demographics; people are more likely today to survive into old age than at any other time in history.…
Understanding the Association Between Obesity and Cholangiocarcinoma
If we are to believe everything we hear about the possible causes of cancer, everything from the foods we eat to the shampoo we use is carcinogenic. Every so often, a “new” cancer risk is reported while another is debunked. This begs the question: what risk factors for cancer have been scientifically validated, and which…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Symptoms of LAL-D August 9, 2022
- Test Your Knowledge About the Diagnosis of GIST August 9, 2022
- Test Your Knowledge About the Symptoms of Pompe Disease August 9, 2022
- Test Your Knowledge About Treating HAE in Female Patients August 5, 2022
- Test Your Knowledge About the Risk Factors of Hereditary Angioedema August 1, 2022
- Test Your Knowledge of Patient Education in LAL-D July 25, 2022
- Test Your Knowledge About the Diagnosis of Hereditary Angioedema July 15, 2022
- Test Your Knowledge About the Etiology of Cholangiocarcinoma June 15, 2022
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