Rare disease

Thalassemia & gene therapy

Gene therapy & β-thalassemia

It seems that the hope of gene therapy for transfusion-dependent β-thalassemia (TDT) is becoming so close. During the 62nd American Society of Hematology (ASH) annual conference, bluebird bio Inc presented a longe term data for their innovative and breakthrough gene therapy betibeglogene autotemcel gene therapy ( LentiGlobin™). Long-term follow-up showed that all patients who achieved transfusion independency remained …

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what is char syndrome?

What is Char syndrome?

Char syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by: Triad of patent ductus arteriosus (PDA) Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, down slanted palpebral fissures. Aplasia or hypoplasia of the middle phalanges of the fifth fingers The incidence of Char syndrome is less …

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What is Calciphylaxis?

Calciphylaxis is an uncommon, rare, serious, and fatal disorder that is characterized by: Calcification of the small blood vessels located within the fatty tissue and deeper layers of the skin. Blood clots formation. Death of skin cells due to too little blood flow. Recent studies estimated that the incidence of calciphylaxis is around 3.5 new …

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