SBIR/STTR Research Award
Newborn Screening for Hearing Impairment
Award amount
$0Program and phase
SBIR · Phase IAward year
2001Award details
- Awarding agency
- Department of Health and Human Services
- Branch
- National Institutes of Health
- Recipient company
- NEO GEN SCREENING, INC.
- Proposal award date
- Not reported
- Contract end date
- Not reported
- UEI
- Not reported
- Solicitation number
- Not reported
- Topic code
- Not reported
Research abstract
DESCRIPTION: (Adapted from applicant's abstract): 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 APPLICATION: NOT AVAILABLE
Technology keywords
Not reported