gene therapy - Page 2

Desbuquois Syndrome: Causes, Symptoms & Treatment

Desbuquois syndrome is a rare and congenital osteochondrodysplasia. The leading symptom is severe short stature with spinal curvature and shortened extremities. In addition to physiotherapeutic measures, surgical correction procedures are primarily used for treatment. What is Desbuquois syndrome? Osteochondrodysplasias are the disease group of skeletal dysplasias and cartilage dysplasias. These tissue defects include Desbuquois syndrome, … Desbuquois Syndrome: Causes, Symptoms & Treatment

Sebastian Syndrome: Causes, Symptoms & Treatment

Sebastian syndrome is one of the MYH9-associated disorders and is a congenital symptom complex with the leading symptom of bleeding tendency that results from a mutation. Familial clusters have been observed. For most patients, long-term therapy is not required to lead a normal life. What is Sebastian syndrome? A group of congenital genetic disorders underlying … Sebastian Syndrome: Causes, Symptoms & Treatment

Kampomele Dysplasia: Causes, Symptoms & Treatment

Kampomele dysplasia is a mutation-related malformation syndrome. Skeletal dysplasias, short stature, and respiratory hypoplasia characterize the picture. Approximately ten percent of patients survive the first few weeks of life and receive symptomatic oeprative treatment to correct their malformations. What is campomelic dysplasia? Malformation syndromes are congenital combinations of malformations of different tissues and organs. Often, … Kampomele Dysplasia: Causes, Symptoms & Treatment

Blue Diaper Syndrome: Causes, Symptoms & Treatment

Blue diaper syndrome is an inborn error of metabolism with tryptophan malabsorption as the leading symptom. The lack of absorption by the intestines results in conversion and excretion by the kidneys, causing the urine to turn blue. Treatment is equivalent to intravenous tryptophan supplementation. What is blue diaper syndrome? Blue diaper syndrome is also known … Blue Diaper Syndrome: Causes, Symptoms & Treatment

Voretigenneparvovec

Products Voretigenneparvovec was approved in the United States in 2017, in the EU in 2018, and in many countries in 2020 as a concentrate and solvent for the preparation of a solution for injection (Luxturna). Structure and properties Voretigenneparvovec is the capsid of an adeno-associated viral vector serotype 2 (AAV2). It contains the cDNA of … Voretigenneparvovec

FG Syndrome: Causes, Symptoms & Treatment

FG syndrome is an X-linked abnormality. Affected individuals suffer from defective vitamin D receptors and, as a result, multifaceted symptoms such as developmental delay, muscle weakness, strabismus, and sensorineural hearing loss. Treatment is symptomatic. What is FG syndrome? Chromosomal aberrations are also called chromosomal abnormalities. They are structural or numerical changes in chromosomes in an … FG Syndrome: Causes, Symptoms & Treatment

Gene Therapy: Treatment, Effects & Risks

In gene therapy, genes are inserted into a human genome for the treatment of hereditary diseases. Gene therapy is generally used for distinct diseases, such as SCID or septic granulomatosis, that cannot be controlled by conventional therapeutic approaches. What is gene therapy? Gene therapy involves inserting genes into a human genome to treat inherited diseases. … Gene Therapy: Treatment, Effects & Risks

Carney Complex: Causes, Symptoms & Treatment

Patients with Carney complex are conductively symptomatic of hormonal imbalances and myxomas. The disease is a mutation-related inherited disorder. Treatment is supportive symptomatic and primarily involves surgical removal or monitoring of myxomas and other tumors. What is a Carney complex? So-called myxomas are benign tumors composed of unformed connective tissue and mucinous gelatinous substance. The … Carney Complex: Causes, Symptoms & Treatment

Myolipoma: Causes, Symptoms & Treatment

Myolipoma is a benign tumor of fat and muscle tissue that occurs primarily in the abdominal and pelvic regions. The cause appears to be a genetic mutation that affects women more often than men. Treatment is equivalent to surgical excision. What is a myolipoma? Tumors are mainly differentiated depending on their degree of malignancy and … Myolipoma: Causes, Symptoms & Treatment

Rodent Syndrome: Causes, Symptoms & Treatment

Rodent syndrome is a congenital malformation syndrome belonging to the acrofacial dysostosis group. The symptom complex is based on a mutation in the SF3B4 gene, which codes for components of the splicing mechanism. Therapy is purely symptomatic. What is rodent syndrome? Acrofacial dysostoses are a group of diseases in the group of congenital skeletal dysplasias … Rodent Syndrome: Causes, Symptoms & Treatment

LEOPARD Syndrome: Causes, Symptoms & Treatment

LEOPARD syndrome is closely related to Noonan syndrome and is characterized by dermal and cardiac malformations that may be associated with symptoms such as deafness and retardation. The cause of the syndrome is a mutation in the PTPN11 gene. Treatment of affected individuals is symptomatic and focuses primarily on the cardiac defect. What is LEOPARD … LEOPARD Syndrome: Causes, Symptoms & Treatment

I-cell Disease: Causes, Symptoms & Treatment

I-cell disease is a lyosomal mucolipidosis. The storage disease is caused by a mutation of the GNPTA gene with gene locus q23.3 on chromosome 12. Symptomatic treatment is mainly by administration of bisphosphonates. What is I-cell disease? Storage diseases are characterized by the deposition of various substances in cells and organs of the human body. … I-cell Disease: Causes, Symptoms & Treatment