Genetic disorders are diseases in which genetic factors play an important role in their etiology. They are classified into chromosomal abnormalities, monogenic and multifactorial disorders. While chromosomal abnormalities and monogenic disorders are purely genetic in nature, multifactorial disorders are produced by the interaction between environmental and genetic factors. Although most genetic...

Gene pool of every organism has shown a wide occurrence of genetic variations. Variations have not only been associated with diseases like cancer, turner syndrome, sickle cell anaemia, cystic fibrosis etc., but some of them have even been proved to be beneficial in certain cases like for increasing bone density, lowering down cholesterol level, and for developing malaria resistance. Genetic var...

This paper reviews the developments that have occurred in the field of human genetics of infectious diseases from the second half of the 20th century onward. In particular, it stresses and explains the importance of the recently described monogenic inborn errors of immunity underlying resistance or susceptibility to specific infections. The monogenic component of the genetic theory provides a p...

Systematic identification of the causal von Willebrand disease (VWD) mutations has been hampered by the large size of the von Willebrand factor gene (VWF) that is highly polymorphic and has a greatly homologous partial pseudogene. Because of these difficulties, molecular studies of VWD have been confined mainly to basic investigation. Current sequencing technology has allowed only some expert l...