H3Africa Collaborative Research Center

Hearing Impairment Genetics Studies in Africa (HI-GeneS Africa)

The Goal: to better understand how genetics influence hearing impairment in African poplations to inform enchanced screening and treatment techniques.

Project Lead

Dr. Ambroise Wonkam

University of Cape Town


The Problem

Hearing impairment (HI) is the most disabling congenital anomaly, with particularly high prevalence in sub-Saharan Africa where up to 6 / 1000 children are born deaf. It is estimated that half of children that are born with HI is because of changes in their DNA. Despite major research progresses elsewhere, genetic causes of hearing impairment in people of African ancestry are largely unknown, making this research very important. Knowing these genes can help doctors to improve their capacity to detect HI early and offer appropriate treatment and counselling to affected people and families.

Project Strategy

  1. Enroll 125 families with early-onset non syndromic hearing impairment (or NSHI) from Cameroon, Mali, Ghana, and South Africa.
  2. Generate next generation sequencing data on hearing-impaired family members.
  3. Analyze sequence data to identiy novel NSHI genes.

Potential Impact

HI-GeneS Africa will have high public health significance, especially for minority populations. Identifying novel genes can help doctors to improve their capacity to detect HI early and offer appropriate treatment and counselling to affected people and families. The project will also improve genetic screening and in the future prediction of cochlear implant and treatment outcomes in sub-Saharan Africans, African-Americans and Hispanic-Americans of African descent.

Project Sites

A: South Africa
University of Cape Town

B: Cameroon
University of Yaounde I / Ministry of Public Health

C: Ghana
University of Ghana

D: Mali
University of Bamako

Non-African Collaborators
USA: Baylor College of Medicine

Funding

This work is supported by the Wellcome Trust, African Academy of Sciences; and U.S. National Institutes of Health (NIH), Office of the Director (OD), the National Institute of Deafness and Other Communication Disorders (NIDCD), and the National Human Genome Research Institute (NHGRI) grant number U01HG009716.

Additional Resources

September 25, 2020

Hearing Impairment Genetics Studies in Africa (HI-GeneS Africa)

HI-GENES Africa Project Summary/Abstract Despite a large number of identified genes, only GJB2 and GJB6 have been systematically studied in sub-Saharan Africans, for which prevalence of NSHI-causal variants is close to zero and we estimate known NSHI genes only explain ~4.1% of autosomal recessive (AR) NSHI in African-Americans.
March 15, 2019

TrypanoGEN+: the genetic determinants of two neglected tropical diseases (Human African Trypanosomiasis (HAT) and Schistosomiasis)

The over-arching aim of this network is to improve the health of people living in some of the poorest countries in the world that carry a disproportionate burden of infectious diseases. Despite their importance, the study of many tropical diseases has lagged behind that of diseases of developed countries.
March 15, 2019

TBGENAfrica: An integrated approach to unraveling susceptibility to tuberculosis in Africa

Africa has the highest level of genetic diversity amongst all human populations. It also has the highest level of genetic diversity amongst populations of the pathogen that causes tuberculosis. Phylogenetic analysis shows that Mycobacterium tuberculosis (MTB) emerged with modern humans in Africa
March 15, 2019

PAMGEN: Genetic interactions between human populations and malaria parasites in different environmental settings across Africa

Our overarching goal is to build a team of African scientists that can harness advanced genomic and computational technologies to better understand how variation in human, parasite and mosquito genomes, as well as in the ecological environment, impact on malaria at individuals and population level.
April 4, 2018

Hearing Impairment Genetics Studies in Africa (HI-GENES Africa)

HI-GENES Africa Project Summary/Abstract Despite a large number of identified genes, only GJB2 and GJB6 have been systematically studied in sub-Saharan Africans, for which prevalence of NSHI-causal variants is close to zero and we estimate known NSHI genes only explain ~4.1% of autosomal recessive (AR) NSHI in African-Americans.