Molecular genetics of non-syndromic hearing loss 

Hearing impairment is the most frequent inherited sensory disorder in humans.  Despite popular belief that deafness is largely caused by normal aging and noise exposure, it is becoming increasingly clear that a significant portion of deafness is genetically determined.  As modern medicine better controls environmental and infectious etiologies of deafness, the portion attributed to heredity has steadily increased.  It is now believed that over 50% of the affected cases are due to genetic factors.  In geographic regions with increased rates of consanguinity, genetic hearing loss is even higher. Over 100 genes are predicted to be exclusively associated with this disorder. 


Two to 4 of every 1000 infants suffer from hearing loss, most often in the form of non-syndromic deafness where hearing loss is not associated with other symptoms.  As per the 47th round of census report published in 1991, there were 32,42,000 persons with hearing impairment in the country, and numbers in 2001 are expected to be about 84,00,000. About 50% of these cases are deaf due to genetic reasons.  There are many psychological and physical implications of deafness including comparatively poor educational achievements and inability to obtain normal speech and language development.  Our lab is interested in studying the molecular complexities of deafness-causing genes and mutations in the Indian populations.  We are investigating role of such genes in their normal and defective situations using human molecular genetic, whole genome-based and cell biological methods.  To estimate prevalence of certain commonly occurring mutations in the country, we are conducting genetic epidemiological studies.   

Deafness genetic research in this lab is being conducted  in collaboration with Mr. R. Rangasayee (AYJNIHH, Mumbai), Mr. Rajeev Jalvi (AYJNIHH, Mumbai), Dr. Arun Agawal (MAMC, Delhi), Dr. Shelly Chadha (MAMC, Delhi), Dr. A. Ramesh (University of Madras, Chennai).

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