|CHDD||Home | Site Map | Search | Directory | Admin Services||
||Center on Human Development and Disability|
|About CHDD | IDDRC | UCEDD|
Dr. Ochs is conducting in vitro studies that may lead to gene therapy for congenital disorders caused by mutations of genes involved in the development of the immune system and normal immune responses. It is hoped these studies will provide information necessary to begin human gene replacement therapy for immunodeficiency disorders. Immune deficient patients who would benefit from such therapy may have multiple disabilities. For example, adenosine deaminase (ADA) deficiency and nucleoside phosphorylase (NP) deficiency have associated neurologic syndromes, liver disease, and bone abnormalities, and the Wiskott-Aldrich syndrome has a platelet defect, eczema, autoimmune disorders, and a high incidence of malignancies.
Ochs has generated databases to cover mutations in WASP, Btk, CD40 ligand, SAP, and other genes causing immune deficiencies. Most recently, his laboratory has focused on two newly discovered genes causing autosomal recessive hyper IgM syndrome (activation-induced cytidine deaminase, AID), uracil-DNA glycosylate (UNG), and the scurfy gene, FOXP3, responsible for a syndrome involving immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX).
University of Washington • Center on Human Development and Disability • Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 • firstname.lastname@example.org
Copyright © 1996—2016 Center on Human Development and Disability. Updated: August 27, 2014