A new way to be deaf? Causes of congenital deafness in the world’s least diverse population (360G-Wellcome-200610_Z_16_Z)

Multidisciplinary teamwork between the PI (a population geneticist revisiting human genetics) and an anthropologist (the named PDRA) has produced exciting preliminary data from South Sinai, Egypt. Our research shows that South Sinai Bedouin tribes, who favour consanguineous marriage, are the world's least genetically diverse populations, and that the Mzeina tribe experiences extraordinary levels of profound non-syndromic deafness (~8%), not attributable to the common causal mutations found in Europe. We aim to build upon these findings with two aims: 1: to establish the underlying genetic basis of deafness in the Mzeina; 2: to determine any socio-environmental factors that may predispose them to deafness. The PI will analyze samples from deaf and hearing individuals to establish the likely genetic basis of the condition, potentially describing a new way of being deaf. The PDRA will interview Mzeina families, aided by Bedu and signers, to establish inheritance patterns for deafness and demographic, social and environmental factors. She will take the tissue samples. Through understanding both genetic and socio-environmental components, we expect to identify both a new form of deafness which may also occur elsewhere, and possible preventative measures. The study has potential to achieve widespread impacts, both social and therapeutic, and generate further research.