gene therapy

Pseudoxanthoma Elasticum: Causes, Symptoms & Treatment

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder also known as Grönblad-Strandberg syndrome. It primarily affects the skin, eyes, and blood vessels. What is pseudoxanthoma elasticum? The condition pseudoxanthoma elasticum is also called elastorrhexis generalista or Grönblad-Strandberg syndrome. It is a hereditary disorder. The elastic fibers of the connective tissue are affected. Grönblad-Strandberg syndrome manifests … Pseudoxanthoma Elasticum: Causes, Symptoms & Treatment

Cystic Fibrosis: Causes and Treatment

Symptoms In cystic fibrosis (CF, cystic fibrosis), different organ systems are affected, resulting in a heterogeneous clinical picture with symptoms of varying severity: Lower respiratory tract: Chronic cough with viscous mucus formation, obstruction, recurrent infectious diseases, e.g., with , inflammation, remodeling of the lungs (fibrosis), pneumothorax, respiratory insufficiency, shortness of breath, wheezing, oxygen deficiency. Upper … Cystic Fibrosis: Causes and Treatment

Okihiro Syndrome: Causes, Symptoms & Treatment

Okihiro syndrome is a complex of malformations that primarily affect the upper extremities. Associated with these malformations is a condition called Duane’s anomaly, which prevents patients from looking outward. Treatment is purely symptomatic and usually consists of surgical correction of the individual symptoms. What is Okihiro syndrome? Malformation syndromes are congenital disorders that manifest as … Okihiro Syndrome: Causes, Symptoms & Treatment

Persistent Hyperplastic Primary Vitreous: Causes, Symptoms & Treatment

Persistent hyperplastic primary vitreus (PHPV) is a congenital and hereditary eye disease. The disease is caused by an embryonic developmental disorder that causes the embryonic vitreous to persist and become hyperplastic. Treatment options usually correspond to surgery. What is persistent hyperplastic primary vitreous? The corpus vitreum is also known as the vitreous body. It is … Persistent Hyperplastic Primary Vitreous: Causes, Symptoms & Treatment

Flynn-Aird Syndrome: Causes, Symptoms & Treatment

Flynn-Aird syndrome is a rare malformation syndrome of the central nervous system, also known as hereditary neuroectodermal syndrome. The cause of the symptoms is a genetic disorder during embryonic development. A causal therapy is not yet available. What is Flynn-Aird syndrome? Flynn-Aird syndrome is a symptom complex belonging to the group of malformation syndromes. The … Flynn-Aird Syndrome: Causes, Symptoms & Treatment

Jones Syndrome: Causes, Symptoms & Treatment

Jones syndrome is a heriditary fibromatosis associated with connective tissue growths on the gums and bilateral progressive sensorineural hearing loss. The connective tissue growths are treated surgically. If hearing loss is present, a cochlear implant can restore hearing. What is Jones syndrome? Hereditary gingival fibromatosis refers to a group of congenital disorders characterized by the … Jones Syndrome: Causes, Symptoms & Treatment

Oto-spondylo-megaepiphyseal Dysplasia: Causes, Symptoms & Treatment

Oto-spondylo-megaepiphyseal dysplasia is a mutation-related skeletal dysplasia. Patients suffer lead symptomatically from defects of bone and cartilage tissue and sensorineural hearing loss. Treatment is purely symptomatic and usually includes pain management. What is oto-spondylo-megaepiphyseal dysplasia? Skeletal dysplasias are congenital disorders of bone or cartilage tissue and are also known as osteochondrodysplasias. A myriad of disorders … Oto-spondylo-megaepiphyseal Dysplasia: Causes, Symptoms & Treatment

Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Baller-Gerold syndrome belongs to the group of malformation syndromes with predominant involvement of the face. The syndrome is due to mutations and is passed on in an autosomal dominant inheritance. Therapy is limited to symptomatic treatment, which consists largely of surgical correction of the malformations. What is Baller-Gerold syndrome? In the disease group of congenital … Baller-Gerold Syndrome: Causes, Symptoms & Treatment

Osteoonychodysplasia: Causes, Symptoms & Treatment

Osteoonychodysplasia is a mutation-related malformation syndrome with predominant involvement of the limbs. In addition to skeletal abnormalities, involvement of the kidneys and eyes is often present. Symptomatic treatment is aimed primarily at delaying terminal renal failure. What is osteoonychodysplasia? Malformation syndromes are characterized by dysplasia of various structures of the anatomy. In medicine, dysplasia is … Osteoonychodysplasia: Causes, Symptoms & Treatment

Onasemnogen-Abeparvovec

Products Onasemnogene bebeparvovec was approved in the United States in 2019 as a suspension for intravenous infusion (Zolgensma). Structure and properties It is a gene therapy using the -gene, in which adeno-associated serotype 9 (AAV9) viruses are used as vectors. The gene is contained in the form of double-stranded DNA in the capsid of the … Onasemnogen-Abeparvovec