Posts Tagged: GENES

“Smart” genetic library – making disease diagnosis much easier

“Smart” genetic library – making disease diagnosis much easier

Hiroshima University finds way to determine disease-causing mutations Researchers at Hiroshima University have developed a smart genetic reference library for locating and weeding out disease-causing mutations in populations. The technique and database, developed by Dr. Satoshi Okada, of HU’s Graduate School of Biomedical & Health Sciences, has successfully estimated naturally occurring rare-variants in the STAT1 gene – and determined the diseases that would result. Using alanine scanning – a method for assessing the functional potential of genes, this study, the first of its kind, should assist doctors in diagnosing primary-immunodeficiency in patients.   STAT1 The STAT1 gene plays an important function in host immunity, through its role as a mediator… Read more