Sequencing studies helps to pinpoint gene in Prader-Willi syndrome

According to the latest research published in Nature Genetics proved that sequencing studies are great help to pinpoint gene in Prader-Willi syndrome. Step by step study is quite beneficial for the patient. The lead authority, Dr. Christian Schaaf, an assistant professor of molecular and human genetics at Baylor College of Medicine and a faculty member at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital explains that, “Because the mom's copy of the gene is silenced and the dad's copy is deficient, there is no functional copy of the gene in his body. It was a nice collaboration among Baylor, UTHealth and Complete Genomics. But it was only one patient. When you identify a new gene and want to prove that it is the real cause of disease, you really need to identify several patients with mutations in the same gene, and show that they also have similar clinical manifestations. You also ought to consider the severity of the mutation and how rare the mutation is.”