This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.This study aims to discover the genetic etiologies of hearing impairment in the Bronx populations. We are collecting saliva and/or blood specimens from children with congenital sensorineural hearing impairment and their parents, when available. Although mutations in many genes have been identified for SNHL, most of the studies were performed in either isolated founder populations or Caucasians. Very little is understood regarding the range of mutations as well as genotype-phenotype correlations in the underrepresented minority populations, African Americans and Hispanics. Our long-term goal is to delineate the spectrum of mutations in genes responsible for congenital deafness in these populations. We have already collected DNAs from 125, mostly sporadic, cases at Montefiore Medical Center (MMC), some of which have been screened for GJB2 mutations, thereby providing preliminary data. Our program takes advantage of access to such populations by partnering with the clinicians at MMC and Health and Hospitals Corporation (HHC; Jacobi Medical Center and North Central Bronx; JMC/NCB) in New York City.
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