Texas newborn screening program research study to detect severe combined immunodeficiency

Repository

Texas newborn screening program research study to detect severe combined immunodeficiency

Show full record

Title: Texas newborn screening program research study to detect severe combined immunodeficiency
Author: Rego, Lauren
Abstract: Severe Combined Immunodeficiency Disease (SCID) is a primary immunodeficiency disorder characterized by a lack of T-cell proliferation. It is important to screen newborns for SCID because without treatment, the disease is 100% fatal. If SCID is diagnosed early, gene therapy as well as stem-cell transplantation can restore T-cell function, saving the newborn’s life. The purpose of this project was to demonstrate the validity of a proprietary assay for T-cell Receptor Excision Circles (TRECs) for diagnosis for SCID in Texas newborns developed by the University of Massachusetts Medical School. 848 newborns were screened at approximately two days and again at two weeks old, and their TREC and RNAse P concentrations were quantified. The results from the Texas screens were compared with those from the University of Massachusetts Medical School, which also screened the specimens. The results of the project will indicate whether or not the Newborn DNA Analysis Group at TDSHS should include SCID in its newborn screening panel.
Department: Biological Sciences, School of Chemistry Biochemistry
Subject: SCID newborn TREC public health severe combined immunodeficiency College of Natural Sciences
URI: http://hdl.handle.net/2152/15643
Date: 2012

Files in this work

Download File: Rego_Lauren_DSthesis.pdf
Size: 1.072Mb
Format: application/pdf

This work appears in the following Collection(s)

Show full record


Advanced Search

Browse

My Account

Statistics

Information