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Browse Rare Disease Advisor’s engaging “Rare Care” podcast series, featuring interviews with leading researchers, stakeholders, and influencers within the rare disease community.

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autoimmune disease

The Power of Inhibiting the Complement System in Cold Agglutinin Disease

The complement system plays an important role in the etiology of many autoimmune diseases, including cold agglutinin disease (CAD), a subset of autoimmune hemolytic anemia. In CAD, auto-antibodies start to react at low temperatures, causing hemolysis and giving rise to clinical symptoms such as fever, dark urine, and flank pain. Scientists are taking a closer…

Shoulder pain

How Hemophilia Continues to Affect Patients’ Quality of Life

The great sting when it comes to chronic illnesses such as hemophilia is arguably their unpredictable nature. Before factor replacement therapy was discovered, every waking day for a patient with hemophilia was a roll of the dice. Patients can get injured by something as simple as knocking one’s knee against a bed frame. The bleeding…

pregnant woman

When Systemic Mastocytosis and Pregnancy Intersect

Systemic mastocytosis is a subset of mastocytosis, which also includes cutaneous mastocytosis and mast cell sarcoma. Mastocytosis has been linked to somatic gain-of-function mutations of the c-KIT gene. KIT is a tyrosine kinase receptor that plays an important role in regulating the normal proliferation, maturation, adhesion, and chemotaxis of mast cells.  Mast cell density has…

DNA strand

Examining Exon Skipping as a Gene Therapy Approach in DMD

Research on gene therapy has become increasingly prominent in recent years, and the trajectory is expected to continue. Since the Human Genome Project was completed a few decades ago, the collective imagination of scientists and physicians worldwide has been ignited by the possibilities that gene therapy opens up.  Gene therapy offers the tantalizing prospect of…

microbiology research

Beyond Imatinib: Next-Generation TKIs for the Treatment of GIST

Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal cancer of mesenchymal origin. It is mostly driven by oncogenic KIT and PDGFRA gain-of-function mutations. This disease is most prevalent among adults aged between 60 and 65 years. There are a number of possible treatment strategies for patients with advanced GIST. Surgery is the treatment of…

MTC Testing

Grading Systems Proposed to Improve the Precision of Treatment for MTC

A key change in the recently published 5th edition of the WHO Classification of Endocrine and Neuroendocrine Tumors was the subdivision of thyroid tumors into new categories that more clearly reflect their cell of origin, molecular classification, cytopathological and histopathological features, and biological behaviors. With regards to medullary thyroid carcinoma (MTC), “the most important update…

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