PWSA (USA) Funded Research - December 2007

DEVELOPMENT OF A MICROSPHERE SUSPENSION ASSAY FOR THE HIGH THROUGHPUT SCREENING OF PRADER-WILLI SUBJECTS – principal investigator is Heather Newkirk, Ph.D.

Expected Significance
The researchers have designed a novel assay for the detection of genomic copy number changes called quantitative microsphere hybridization (QMH). Current PWS testing has limitations in identifying some of the genetic subtypes. This research has two major aims. The expected significance of each specific aim includes the following: Aim 1) Development of a high-resolution, high-throughput, low-cost assay for screening PWS subjects to distinguish different types of deletions including IC (imprinting center) defects. The assay could ultimately impact clinical delineation and description of the syndrome as well as genetic counseling and management of the syndrome. The QMH (quantitative microsphere hybridization) platform could be readily introduced into the clinical setting as a cost-effective, rapid screening method for PWS. No such assay currently exists for identification of IC mutations in subjects with PWS. Aim 2) Development of a panel of unique sequence probes for use in FISH analysis for typical type I, type II and IC deletions, which currently cannot be distinguished or in some cases even detected using commercial probes.

edited:08/19/2008