This comprehensive review provides a unique analysis of Phenylketonuria (PKU) in the context of medical genetics. It... More > discusses genetic mutations of PKU and related disorders; and prenatal and neonatal testing for PKU. It also discusses treatment options. The article provides an analysis of the existing literature describing the clinical outcomes of untreated PKU in different age groups. PKU is known for its variability of clinical symptoms - this article discusses some of the reasons behind such variability in the context of the latest research studies. The article also addresses the evolutionary aspects of PKU - providing a comparison data from different countries.This review article is an excellent resource for the patients, health care providers, expecting parents, genetics professionals and general public. It includes the analysis of more than 15 original research studies and provides a comprehensive perspective on the genetic and clinical characteristics of PKU. < Less

This review article is focused on genetic and clinical characteristics of congenital adrenal hyperplasia (CAH), a family of... More > autosomal recessive disorders of the adrenal hormone synthesis. < Less

This review article is focused on genetic and clinical characteristics of autism, a
complex developmental disability... More > syndrome which is typically evident within the
first three years of life. Autism results from a neurological disorder that impacts
individual's development in the areas of communication and social interaction.
Autism is a life-long disability. The most pronounced characteristic
of autism is inability of the affected individual to form relationships with others. Most patients
with autism have difficulties participating in leisure and play activities. Striking
increase in incidence of autism over the past decade has attracted closer
attention of scientists, clinicians and general public. < Less

This review article is focused on genetic and clinical characteristics of cystic fibrosis (CF), a hereditary disorder that... More > causes electrolyte and fluid transport imbalances. Cystic fibrosis has been considered primarily a disease of European population. This article provides statistics from the latest studies and explores recent data from WHO to demonstrate an important concept - cystic fibrosis affects all races and ethnic groups, but due to the lack of awareness, it is often unrecognized. This review covers in-depth classification of types of CF and discusses adult, neonatal and prenatal screening, including newest genetic screening. A new concept of evolutionary advantage of some hereditary conditions has been recently introduced in medical sciences. Using the data from latest anthropologic and clinical studies, we provide evidence in support of the hypothesis that gene for cystic fibrosis developed under evolutionary pressure and confers beneficial effect to the gene carriers. < Less

This review article discusses genetic, clinical and evolutionary aspects of Gaucher disease. Gaucher disease is an autosomal... More > recessive disorder of lipid storage. It is very common worldwide. This review covers traditional laboratory and genetic testing for Gaucher disease, with specific attention given to the effectiveness and limitations of these tests. Treatment options, including experimental gene therapy, are covered as well. We explored the prevalence of this disorder and compared rates of occurrence of different mutations among different ethnic groups. Special attention has been given to the evolutionary aspect of Gaucher disease – we discussed anthropologic and animal studies and analyzed the most popular hypothesis of the selective advantage of Gaucher disease. This review article also discusses the rates of occurrence of neurological, pulmonary and cardio-vascular disease in Gaucher disease patients. < Less

This comprehensive review provides a unique analysis of Phenylketonuria (PKU) in the context of medical genetics. It... More > discusses genetic mutations of PKU and related disorders; and prenatal and neonatal testing for PKU. It also discusses treatment options. The article provides an analysis of the existing literature describing the clinical outcomes of untreated PKU in different age groups. PKU is known for its variability of clinical symptoms – this article discusses some of the reasons behind such variability in the context of the latest research studies. The article also addresses the evolutionary aspects of PKU – providing a comparison data from different countries.

This review article is an excellent resource for the patients, health care providers, expecting parents, genetics professionals and general public. It includes the analysis of more than 15 original research studies and provides a comprehensive perspective on the genetic and clinical characteristics of PKU. < Less

Increasing awareness of a strong influence of heredity on breast cancer has lead to this comprehensive review article, which... More > is focused on genetic factors related to breast cancer.

This article discusses mechanism of carcinogenesis, prevalence and mode of inheritance of BRCA1 and BRCA1, as well as involvement of these genes in other types of cancer. It also discusses 8 other oncogenes and one genomic region associated with breast cancer.

Male breast cancer, although rare, is strongly associated with the hereditary factors. This article discusses specific genetic mutations and hereditary conditions, which often lead to male breast cancer. Genetic testing and gene profiling, increasingly used in diagnosis and prognosis of breast cancer, are discussed in detail.

This review article covers 26 original research studies and includes analysis of these studies in the context of breast cancer genetics. < Less