Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. ...

Neil Risch, in a series of seminal papers in 1990 (1, 2), demonstrated the utility of sibpair linkage analysis in identifying genes for complex genetic traits. In doing so, he defined what is the current paradigm for the genetic dissection of common complex genetic diseases. The recent Perspective by Risch and Kathleen Merikangas (3) again shapes the future of human disease gene mapping by defi...

The number of genes associated with renal disease is increasing every day and this has led to a clearer understanding of the pathophysiology of renal disease in many disorders. It is also appreciated now that a genetic mutation(s) underlie many renal syndromes. Genetic testing may also offer the possibility to diagnose some renal diseases without the need for a renal biopsy. It also allows the ...

background: the earlier atomic bomb explosion in hiroshima and nagasaki, and three worth mentioning nuclear accidents - detonation at fukushima daiichi nuclear plant, chernobyl nuclear fallout and an accident at three mile island nuclear power plant have made us more worried about the secure exploitation of nuclear energy. the central focus of this paper is to review radiation-mediated health e...

Individuals who are at risk because of their family history or concerned about the possibility of having an affected child based any reasons are seeking solution approaches. Nowadays genetic counseling offers hope to prevent from suffering some genetic diseases. Advances in genetics diagnosis testing have played effective role in this regards. Interestingly, Preimplantation Genetic Testing woul...