The feasibility of screening borns for hearing impairmflent in an assay paralleling routine metabolic screening will be demonstrated. Hearing loss owing to heredity factors and cytomegalovirus are analyzed. DNA from the universally collected newborn filter paper blood card serves as the source of nucleic acids to perform the assay. Several target sequences in the cytomegalovirus genome will be evaluated for their utility to identify viral DNA in the newborn specimen. The following mutations in connexin 26, Pendrin, and connexin 31 genes serve as model systems for hereditary hearing loss: (1) connexin 26 35 del G, 167 del T, .Usher2A 23l4delG; (2) Pendrin L236S, T416P; Mitochondrial A1555G. Amplicons that are diagnostic for CMV DNA and the described mutations are analyzed using a low-density oligonucleotide inicroarray in a multiplex format. The microarray vjfl clearly distinguish homozygous wild type, heterozygotes, and homozygous mutants for the described mutations. Screening for hearing impairment in a laboratory-based program, parallel to auditory screening, will provide an overall superior screening service. The lab assay will identify many newborns that would be missed where auditory screening is not available.

Proposed Commercial Applications

NOT AVAILABLE

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Small Business Innovation Research Grants (SBIR) - Phase II (R44)
Project #
4R44DC004902-02
Application #
6485196
Study Section
Special Emphasis Panel (ZRG1-IFCN-6 (10))
Program Officer
Luethke, Lynn E
Project Start
2001-07-01
Project End
2004-03-31
Budget Start
2002-04-05
Budget End
2003-03-31
Support Year
2
Fiscal Year
2002
Total Cost
$691,319
Indirect Cost
Name
Pediatrix Screening, Inc.
Department
Type
DUNS #
868899907
City
Bridgeville
State
PA
Country
United States
Zip Code
15017