Latest News
CF Incidence May Be Lower Than Previously Reported and Varies Widely
Bronchoscopy Is Safe and Useful for Treatment Guidance in Cystic Fibrosis
Mindfulness-Based Interventions May Improve Quality of Life in MS
New Imaging Approach Could Help Better Detect MS Lesion Progression
Managing Dyslipidemia in Late Adolescence to Prevent Preclinical Atherosclerosis
Efficacy of Berotralstat in Preventing HAE Attacks Supported by Real-World Data
PPI Treatment for CF May Carry Higher Risk of Respiratory Infections
Patients With CF Experience Significant GI Manifestations at All Ages
Study Sheds Light on the Role of Microglia in Secondary Progressive Multiple Sclerosis
Features of Synchronous Thyroid Carcinomas Including MTC Vary
PET/CT Not Widely Used for MTC in Spain, Survey Suggests
Study Shows Heterogeneity of Diagnostic Tools and Treatment in Wilson Disease
Diagnosis and Management of Wilson Disease Differ Between Centers in Spain
Diagnostic Guidelines for Normal C1-INH-HAE Require Further Implementation
Case Report Sheds Light on Heart Disease in Intrauterine-Onset Infantile Pompe Disease
Berotralstat Therapy Reduces Attacks in Patients With HAE
Large AATD Screening Program Identifies Novel SERPINA1 Alleles
New Study to Assess AAT Levels in Pre-Eclamptic Women
Ferroptosis Inhibitors Show Therapeutic Potential in a Model of IPF
Latest Features
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Putting Patients First in Hemophilia Treatment Decision Making
Patients should be placed front and center in any discussions about hemophilia therapeutic options. -
Exploring the Parental Burden of Care of Children With Rare Diseases
The parental burden of care of children with rare diseases is considerable and deserves due attention and support. -
The Role of Surgery in Managing Medullary Thyroid Carcinoma
Surgical resection remains an important part of medullary thyroid carcinoma care, provided that the tumor is still resectable. -
B Cells as a Disease Driver and Therapeutic Target in NMOSD
B cells regulate immune function; however, in NMOSD, they also play a role in driving crucial pathophysiological processes. -
The Vital Importance of Liver Transplantation in Patients With ALGS
Liver transplantation is often urgently required in patients with Alagille syndrome and end-stage liver disease. -
EveryLife Foundation Navigates Complex Issues to Advocate for Rare Disease Patients
The EveryLife Foundation for Rare Diseases pushes a legislative agenda aimed at benefitting the 30 million Americans with a rare disease. -
Investigating the Merits of an LAL-D Screening Program
Lysosomal acid lipase deficiency screening programs can identify cases early, but is it worth the investment? -
Understanding Bone Pathology in Systemic Mastocytosis
Bone pathology is one of the more prominent features of systemic mastocytosis, often causing falls and fractures. -
Subtle Genetic Differences in Pompe Disease May Affect Phenotypes and Prognosis
GAA genetic variations can impact the phenotype and prognosis of Pompe disease in different individuals with the disease.
Latest Patient Perspectives
The Unique Challenges of Being a Woman With Pompe Disease
While Pompe disease doesn’t affect men and women any differently, it’s still very necessary to understand what it’s like for a woman with Pompe
Why I Am Proactive as an AATD Patient
As an alpha-1 antitrypsin deficiency (AATD) patient, there are a lot of reasons for why I am proactive in my health.
My Sitdown With a Cardiologist: Treatments for Heart-Related DMD Care Are Evolving
Heart-related issues have played a significant role in managing my Duchenne muscular dystrophy (DMD).
How COVID Affects Alagille Syndrome in the Long Term
When COVID started to become a concern in 2020, I wasn’t sure how it could potentially affect my son, who has with Alagille syndrome.
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
The Relationship Between Lung Disease in AATD and Psychiatric Illness
Alpha-1 antitrypsin deficiency (AATD) increases susceptibility to lung disorders such as emphysema and chronic obstructive pulmonary disease (COPD). Patients with AATD are known to develop lung disease at a significantly younger age compared with the general population. The typical pattern of lung disease onset includes the manifestation of respiratory symptoms such as cough, dyspnea, and…
The Accelerating Pivot to Gene Therapy in Pompe Disease
Pompe disease, which belongs to a group of diseases known as glycogen storage disease, is inherited in an autosomal recessive manner and results in a deficiency in the enzyme alpha-glucosidase (GAA). This causes lysosomal dysfunction and the abnormal accumulation of glycogen in the body. The severity of its presentation largely depends on the remaining levels…
The Association Between IPF and Lung Cancer: Treatment Options
Lung cancer is one of the leading causes of cancer-related deaths globally, with an estimated 2 million new cases every year. The association between cigarette smoking and lung cancer has been known for decades, but epidemiological studies still pin this habit as a leading cause of this disease. It should be noted, though, that lung…
The Current Therapeutic Landscape for Systemic Mastocytosis
Mast cells were first identified in 1878 by Paul Ehlrich when he observed that certain cells were stained with metachromatic dyes. We now understand mast cells to have their origin in bone marrow precursors; they are myeloid lineage cells that are derived from hematopoietic progenitors such as CD34+ and KIT+. Mastocytosis is 1 of 8…
Managing Treatment Resistance in Patients With DLBCL
The R-CHOP regimen (consisting of rituximab, cyclophosphamide, doxorubicin hydrochloride, vincristine, and prednisone) has revolutionized the treatment of diffuse large B-cell lymphoma (DLBCL). Improvements in patient outcomes have become widely known, with long-term disease-free survival rates increasing to 60%-70%. However, some patients (up to 40%) develop relapsed or refractory disease (rrDLBCL), which has a poor prognosis.…
Hepatocellular Carcinoma From a Background of Alagille Syndrome
Alagille syndrome (ALGS) is an autosomal dominant developmental disorder characterized by abnormalities in the eyes, heart, liver, and bones. Patients with ALGS may also have a characteristic facial appearance that includes a prominent forehead, deep-set eyes, and a pointy chin and nose. Studies have shown that this disease is driven by dysfunction in the Notch…
Meeting Coverage
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Recent Quizzes- Test Your Knowledge About the Differential Diagnosis of Pompe Disease November 28, 2022
- Test Your Knowledge About the Detection and Assessment of MTC November 25, 2022
- Test Your Knowledge About the Prognosis of DMD November 23, 2022
- Test Your Knowledge About the Testing of Neuromyelitis Optica Spectrum Disorder November 22, 2022
- Test Your Knowledge About Systemic Mastocytosis Comorbidities November 22, 2022
- Test Your Knowledge About the Risk Factors of Pompe Disease November 21, 2022
- Test Your Knowledge About the Complications of MTC November 18, 2022
- Test Your Knowledge About the Epidemiology of NMOSD November 17, 2022
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