- Patients should be placed front and center in any discussions about hemophilia therapeutic options.
- The parental burden of care of children with rare diseases is considerable and deserves due attention and support.
- Surgical resection remains an important part of medullary thyroid carcinoma care, provided that the tumor is still resectable.
- B cells regulate immune function; however, in NMOSD, they also play a role in driving crucial pathophysiological processes.
- Liver transplantation is often urgently required in patients with Alagille syndrome and end-stage liver disease.
- The EveryLife Foundation for Rare Diseases pushes a legislative agenda aimed at benefitting the 30 million Americans with a rare disease.
- Lysosomal acid lipase deficiency screening programs can identify cases early, but is it worth the investment?
- Bone pathology is one of the more prominent features of systemic mastocytosis, often causing falls and fractures.
- GAA genetic variations can impact the phenotype and prognosis of Pompe disease in different individuals with the disease.
Latest Patient Perspectives
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
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…
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…
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…
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…
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.…
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…