| Proje Ekibi |
Doç. Dr. Nilnur EYERCİ
Kafkas Üniversitesi, Türkiye Projedeki Rolü: Araştırmacı |
| Proje Türü | Diğer Uluslararası Kurum ve Kuruluşlar |
| Proje No | - |
| Proje Konusu | Hear-‘n-SEQ: an international collaboration to discover unknown genetic etiologies of hearing loss in kidsHearing loss is one of the single most common birth defects with life-long impacts, because it affects a child’s ability to develop speech, language, cognitive and social skills. The earlier a child with hearing loss starts receiving appropriate medical and educational services, the more likely they are to reach their full potential. More than half of early hearing loss is due to genetic factors. While the majority of prelingual hearing loss is nonsyndromic, over 400 syndromes have been described that have hearing impairment as a component. It is critical to identify the etiology of hearing loss for many reasons, as there may be important health surveillance implications particularly with syndromic causes and for family members. Although hundreds of genes have been associated with hearing loss, currently available clinical genetic testing for congenital hearing loss can only explain about a third of the cases, because: 1) the clinical significance cannot be determined for many genetic variants found in known hearing loss genes 2) certain types of genetic variants affecting known hearing loss genes are not detectable by current testing methods and 3) it is estimated that a large number of hearing loss genes are as yet unknown. We have organized an international consortium to overcome this hurdle. Through a collaborative project called Hear-’xxn-SEQ: Sequencing Kids First for Hearing, we leverage resources of the Gabriella Miller Kids First Pediatric Research Program supported by the National Institutes of Health Common Fund’s. The goal is to ”seek-out” the genetic etiology of childhood hearing loss through comprehensive phenotypic and genomic analyses in an international cohort of hearing impaired patients. This international collaboration is positioned to produce a maximum yield of diverse genetic causes, as it has been well established that different populations segregate distinct concentrations of hearing loss alleles. We have identified and collected well-curated patient clinical information and DNA samples from children with hearing loss and their parents (trios) or carefully selected multiple affected individuals based on the pedigree structure. Affected children have been screened to exclude known genetic causes for hearing loss. To date, we have submitted 473 individuals in 151 families for whole genome sequencing (WGS) through the program. They represent samples from hearing impaired pediatric populations of parts of East Asia (Hong Kong and China), Europe (Italy), the Middle East (Turkey), and the US (individuals of European, African American, Central American and Caribbean descent). WGS interrogates the whole genome thus revealing variants in novel genes as well as noncoding and structural variants that are undetectable by standard testing. In addition to identifying novel etiologies for hearing loss, ultimately this work is designed to help create a pipeline for routinely integrating genomic sequencing into clinical diagnostics, generating more refined diagnostic capabilities, and eventually more targeted therapies or interventions for children with hearing loss. Furthermore, members of the Hear-‘n-SEQ consortium have agreed to share both phenotypic and sequence data with the pediatric research community. We are working on integrating the data collectively into a shared harmonized data resource. |
| Proje Durumu | Devam Ediyor |
| Başlangıç Tarihi | 01-07-2017 |
| Bitiş Tarihi |
