Posts Tagged: DISEASE

World first: Stem cell treatment for lethal STAT1 gene mutation — shows ‘disappointing’ but promising results

World first: Stem cell treatment for lethal STAT1 gene mutation — shows ‘disappointing’ but promising results

The first ever study assessing how patients with “gain of function” mutation of the STAT1 gene respond to stem cell transplantation has taken place. It involved 15 young patients, from nine different countries, each suffering a range of complications caused by the gene’s mutation. Of these, only six survived a regime of stem cell transplantation – with five completely cured and disease free by the study’s conclusion.   The study was carried out by Dr. Satoshi Okada (Hiroshima University), Professor Jennifer Leiding (University of Florida), Professor Tomohiro Morio (Tokyo Medical and Dental University), and Professor Troy Torgerson  (University of Washington). Dr. Okada, who first discovered the STAT1 gain of function… Read more

“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