Latest News
Improved Motor Function With Nusinersen Observed in SMA Patients
Improved Characteristics Shown in Survivors With Long-Term IPF
Importance of AATD Patients Recognizing Exacerbations in Pulmonary Symptoms
Reverse Vaccination: A New Process to Prevent Immune System From Attacking Medications
Dedicated ILD Clinic Care Improves the Monitoring of Patients With IPF
Seven-Domain Framework Finds Poor Sleep Health in Many MS Patients
GIST Recurrence Risk Higher With Certain KIT Exon 11 Mutations
AATD Testing in COPD Patients Remains Low Despite Clinical Benefits
Splicing Mutations as Potential Diagnostic Targets for ALGS
Rare Pancreatic Tumors Could Be a Comorbidity in Patients With PAH
Novel Therapy Prevents Inhibitor in Hemophilia A Patients Receiving Recombinant FVIII Treatment
Long-Term Survival of Patients With GISTs Similar With Endoscopic Resection and Surgery
Elevated Oxidative Stress Hampers ERT Efficacy in Pompe Disease
Dr. Durhane Wong-Rieger on the Challenges Faced by Rare Disease Patients in Canada
Case Report: Pulmonary Arterial Hypertension Due to Vitamin C Deficiency
PAH May Be a Side Effect of Carfilzomib in Rare Cases
Researchers Identify New Source of Intrahepatic Duct Cells
Ultra-Widefield and Anterior-Segment OCT Useful in Alagille Syndrome
CAD Patients Use Significantly More Healthcare Resources
Latest Features
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Genome Sequencing Increases Diagnostic Accuracy in Alagille Syndrome
We explore the role of genomic sequencing in diagnosing Alagille syndrome and some of the dilemmas of genetic testing for this disease. -
The Promising, Yet Challenging, Role of Immunotherapies in GIST Research
The challenge for scientists is to develop immunotherapies targeting new molecular sites that can provide consistent clinical benefits in GIST patients. -
Artificial Intelligence Can Aid in Cholangiocarcinoma Diagnosis and Management
Artificial intelligence can play a role in identifying risk factors for cholangiocarcinoma, as well as in diagnosing and grading the disease. -
CORD Aims to Improve Diagnosis, Drug Access for Canada’s Rare Disease Patients
The Canadian Organization for Rare Disorders advocates for better diagnosis and drug access for Canada’s 3 million people with rare diseases. -
Exploring Noninvasive Imaging in Intrahepatic Cholangiocarcinoma
Various imaging modalities can be used to diagnose and characterize intrahepatic cholangiocarcinoma and assess prognosis and treatment response. -
Reviewing the Benefits of Triheptanoin in Long Chain Fatty Acid Oxidation Disorder
Triheptanoin is clinically promising for LCFAOD, although challenges remain in quantifying its effects as a reliable biochemical marker. -
SMA Biomarkers as Gateways to Better Clinical Care
Through the combined efforts of researchers, key biomarkers of spinal muscular atrophy have been identified. -
Diagnosing and Managing Patients With Low Von Willebrand Factor
Researchers conducted a review of what we know about low von Willebrand Factor and how best to treat this disease. -
Lipids Play a Key Role in the Pathogenesis of Multiple Sclerosis
Lipids, which play a key role in the pathogenesis of multiple sclerosis, can be used as targets or carriers of treatment.
Latest Patient Perspectives
Once Diagnosed with Pompe, I Took These Steps to Accelerate My Treatment
At 26 years old, I was diagnosed with having an extremely rare genetic disease, Pompe disease. This is a disease not many know much about.
Psychological Health Critical in Treatment of Medullary Thyroid Cancer
For healthcare professionals treating patients like myself with medullary thyroid cancer (MTC), the focus is on treating the actual disease.
Doctor, Please Don’t Google My Rare Disease in Front of Me
I expected my physician to at least have the dignity to research Pompe disease privately, instead of in front of me.
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
Therapeutic Frontiers in Managing Spinal Muscular Atrophy Type 1
Spinal muscular atrophy type 1 (SMA1) is a rare neuromuscular disease that causes muscle weakness and atrophy. It is inherited in an autosomal recessive manner and is caused by a homozygous mutation or deletion in the survival motor neuron 1 (SMN1) gene. Type 1 is the most severe form of SMA and carries a mortality…
Lung Transplantation for IPF: Risk Factors and Complications
In severe cases of idiopathic pulmonary fibrosis (IPF), lung transplantation may be offered. However, lung transplantation is a major surgery in which many complications may develop. The greatest danger is, of course, death. Therefore, it is important that we give due weight to the risk factors associated with higher frequencies of post-transplant complications, as well…
The Role of Medical Imaging in Alpha-1 Antitrypsin Deficiency
It is difficult for modern physicians to imagine medicine without the convenience of medical imaging. When I worked as a junior doctor in Borneo, the older doctors were clearly much better at bedside diagnoses than us younger ones. What could be the reason for this? One possible explanation was the relative scarcity of imaging modalities…
Challenges in Diagnostic Imaging of Medullary Thyroid Carcinoma
Thyroid ultrasound is the gold-standard diagnostic tool to identify thyroid nodules at the highest risk for malignancy. However, it lacks the specificity to accurately detect medullary thyroid carcinoma (MTC), thereby delaying treatment initiation. According to the available data, thyroid ultrasound can identify a malignant lesion in the correct thyroid lobe with a 90% sensitivity, but…
Exploring Right Ventricular Failure in Pulmonary Arterial Hypertension
Every year, the American Thoracic Society (ATS) organizes a conference in which ideas are exchanged and the latest research developments in the field of respiratory medicine are presented. Despite coronavirus disease 2019 (COVID-19) restrictions, the 2020 conference went ahead virtually and was, by all accounts, a major success. Medical conferences such as these, besides allowing…
Improvements in the Clinical Management of Advanced GIST
The clinical management of metastatic gastrointestinal stromal tumor (GIST) has greatly improved since the early 2000s. The approval of imatinib mesylate (Gleevec®) in 2002 by the US Food and Drug Administration (FDA) was a major turning point in the survival of patients with GIST. Since then, as mentioned by Drs. Patel and Reichardt, "a treatment…
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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