Genetic Analysis of Human Hereditary Hearing Impairment
Launched by NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS (NIDCD) · Nov 3, 1999
Current as of February 21, 2024
The objective of this research project is to map and clone genes that are important for the normal development or maintenance of the auditory system. One strategy for identifying some of the genes important for auditory processes is to ascertain large families each with several hearing impaired individuals. Initial contact will be made by family physicians, audiologist, supervisors in schools for the hearing impaired, and directly by the principal investigators during surveys of schools for the deaf and visits with hearing impairment self-help groups. Members of a family will be evaluated b...
- INCLUSION CRITERIA:
- It is anticipated that, in most cases, patients will be recruited whose disorders do not appear to be syndromic (i.e. are not associated with extra-auditory or extra-vestibular features).
- We seek subjects who are members of large families with multiple individuals affected with a hearing disorder. Sporadic cases will occasionally be included when the phenotype has features suggestive of mutations in one or a few particular candidate genes, since autosomal or X-linked recessive inheritance can appear to be sporadic.
- If there is evidence of genetic homogeneity, small families can be pooled for linkage analysis, or a combination of large and small families can be pooled.
- Subjects of any ethnic background, gender, age, sexual orientation, or health status will be included.
- EXCLUSION CRITERIA:
- Patients will be excluded when their hearing or vestibular dysfunction are known to be caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics.
The National Institute of Allergy and Infectious Diseases (NIAID, /ˈnaɪ.æd/) is one of the 27 institutes and centers that make up the National Institutes of Health (NIH), an agency of the United States Department of Health and Human Services (HHS). NIAID's mission is to conduct basic and applied research to better understand, treat, and prevent infectious, immunologic, and allergic diseases.
Immunology at National Institute of Allergy and Infectious Diseases (NIAID)
Bethesda, Maryland, United States
All reviews come from applied patients