No abstract available.
Cardiovascular Diseases* ; Genetic Therapy*

No abstract available.
Genetic Therapy* ; Vascular Diseases*

No abstract available.
Periodontal Diseases* ; Polymorphism, Genetic*

No abstract available.
Adenocarcinoma ; Erythema ; Skin Diseases, Genetic

Dependovirus ; genetics ; Genetic Therapy ; Genetic Vectors ; Humans ; Liver Diseases ; therapy

There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.
Child ; Humans ; Genetic Diseases, Inborn/therapy* ; Genetic Therapy

Approaches to the study of the genetic basis of common complex diseases and their clinical applications are considered. Monogenic Mendelian inheritance in such conditions is infrequent but its elucidation may help to detect pathogenic mechanisms in the more common variety of complex diseases. Involvement by multiple genes in complex diseases usually occurs but the isolation and identification of specific genes so far has been exceptional. The role of common polymorphisms as indicators of disease risk in various studies is discussed.
Genetic Diseases, Inborn ; genetics ; Genetic Predisposition to Disease ; Genetic Techniques ; Humans ; Inheritance Patterns ; Linkage Disequilibrium ; Models, Genetic ; Polymorphism, Genetic ; Risk Factors

Waardenburg`s syndrome is a rare hereditary disease, which is characterized by dystopia canthorum, hypochromic heterochromic iridum, sensorineural deafness,high and broad nasal bridge, white forelock and premature graying. We present a case of 27 year old woman with Waardenburg`s syndrome. She has characteristic features such as dystopia canthorum, broad and high nasal bridge, confluent eyebrow(synophrys), hypochromic heterochromic iridum, depigmented fundus and premature graying.
Adult ; Female ; Genetic Diseases, Inborn ; Humans

No abstract available.
Genetic Therapy* ; Hepatocytes* ; Liver Diseases* ; Liver*

Cardiovascular Diseases ; genetics ; Genetic Research ; Humans