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 …
Carcinoid syndrome usually takes place in patients with an advanced stage of carcinoid tumors. Carcinoid tumor is a type of rare tumors that occur in the small intestine, appendix, and lung. Moreover, it may grow in other organs of the body like ovaries. According to recent data, 40% of neuroendocrine tumors patients develop carcinoid 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 …
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 …
What is Wilson’s disease? Wilson’s disease is a rare genetic autosomal disease. It occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of the disease gene. It is caused by disruption or changes (mutations) of the ATP7B gene, which plays an important role in the movement …
Welcome to WordPress. This is your first post. Edit or del What is Alport syndrome? Alport syndrome is one of the rare genetic diseases that affect the kidney and may lead to kidney failure with time. Additionally, both the hearing and vision of patients will be impacted with time. It is considered rare since it …
