Genetics

  Most information about PWS starts out with a brief overview of the genetics of the condition. Deletion of chromosome 15 is listed as the most common cause of PWS, accounting for roughly 70% of cases.[ Read more . . . ]

Here's a very interesting summary of a research article just published in the journal Cell. The important point here (at least for the sake of this conversation) is not the prostate cancer link - but rather the identification of another protein that can change the methylation status of histones - thereby reactivating previously silent DNA.[ Read more . . . ]

There's a new paper out in a top journal, Science, on what is may be the first understanding of the underlying molecular basis of features of PWS - The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C -- I've put the link at the end of the message. Here's the lowdown:[ Read more . . . ]

Below you'll find the abstract for a newly published paper trying to narrow down exactly which DNA sequences in the PW region of chromosome 15 are responsible for PWS.[ Read more . . . ]

Dr. Rob Nicholls has just published another study supported by FPWR. You may recall that his group developed a mouse model of PWS (and Angelman’s syndrome if inherited maternally) some years back. We are currently supporting his studies to better characterize that model. [ Read more . . . ]

Below is a link to recently published paper from Dr. Francke's group at Stanford Univ. You might recall that Dr. Francke received an FPWR grant in the first funding cycle (2003), and the work in this publication was supported by those funds.[ Read more . . . ]

New research has identified genes affected in Prader-Willi patients by deletion. Deletions account for approximately 70% of PWS cases.  There are two different sizes of deletion, with one type encompassing more genes than the other.[ Read more . . . ]