Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa

Adadey, Samuel Mawuli; Awandare, Gordon A.; Kwabla, AmedofuGoffrey; WonkamAmbroise,

doi:10.1089/omi.2017.0145

Cited by 12 publications

(12 citation statements)

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“…Of interest, previous studies have shown that a common founder mutation accounted for about 16.2% of congenital HI was p.R143W in a random sample of Ghanaians affected by hearing loss (Hamelmann et al, 2001). To our knowledge, the contribution of connexin 30 to HI, and the carrier frequency of the GJB2 mutation in non-affected individuals has not been studied in Ghana (Adadey et al, 2017). In the present research, we aimed to investigate the putative environmental causes of childhood HI, and revisit the contribution of GJB2 , and to investigate GJB6 mutations in carefully selected samples of families segregating HI, and in isolated cases of putative genetic origin, as well control populations non-affected by HI, in Ghana.…”

Section: Introductionmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

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Our study aimed to investigate GJB2 (connexin 26) and GJB6 (connexin 30) mutations associated with non-syndromic childhood hearing impairment (HI) as well as the environmental causes of HI in Ghana. Medical reports of 1,104 students attending schools for the deaf were analyzed. Families segregating HI, as well as isolated cases of HI of putative genetic origin were recruited. DNA was extracted from peripheral blood followed by Sanger sequencing of the entire coding region of GJB2. Multiplex PCR and Sanger sequencing were used to analyze the prevalence of GJB6-D3S1830 deletion. Ninetyseven families segregating HI were identified, with 235 affected individuals; and a total of 166 isolated cases of putative genetic causes, were sampled from 11 schools for the deaf in Ghana. The environmental factors, particularly meningitis, remain a major cause of HI impairment in Ghana. The male/female ratio was 1.49. Only 59.6% of the patients had their first comprehensive HI test between 6 to 11 years of age. Nearly all the participants had sensorineural HI (99.5%; n = 639). The majority had pre-lingual HI (68.3%, n = 754), of which 92.8% were congenital. Pedigree analysis suggested autosomal recessive inheritance in 96.9% of the familial cases. GJB2-R143W mutation, previously reported as founder a mutation in Ghana accounted for 25.9% (21/81) in the homozygous state in familial cases, and in 7.9% (11/140) of non-familial non-syndromic congenital HI cases, of putative genetic origin. In a control population without HI, we found a prevalent of GJB2-R143W carriers of 1.4% (2/145), in the heterozygous state. No GJB6-D3S1830 deletion was identified in any of the HI patients. GJB2-R143W mutation accounted for over a quarter of familial non-syndromic HI in Ghana and should be investigated in clinical practice. The large connexin 30 gene deletion (GJB6-D3S1830 deletion) does not account for of congenital non-syndromic HI in Ghana. There is a need to employ next generation sequencing approaches and functional genomics studies to identify the other genes involved in most families and isolated cases of HI in Ghana.

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Section: Introductionmentioning

confidence: 99%

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

et al. 2019

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“…To achieve this symbiosis, an enormous commitment should be made by researchers, physicians, and the pharmaceutical industry, to conduct high-quality clinical trials that will benefit patients at the same time as we gain substantial scientific knowledge. 37 , 38 …”

Section: The Importance Of Precision Medicine In Countries With Limitmentioning

confidence: 99%

Precision medicine and its implementation in patients with NTRK fusion genes: perspective from developing countries

Zorrilla

Arrieta

Ruíz-Patiño

et al. 2020

Ther Adv Respir Dis

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Precision oncology is the field that places emphasis on the diagnosis and treatment of tumors that harbor specific genomic alterations susceptible to inhibition or modulation. Although most alterations are only present in a minority of patients, a substantial effect on survival can be observed in this subgroup. Mass genome sequencing has led to the identification of a specific driver in the translocations of the tropomyosin receptor kinase family (NTRK) in a subset of rare tumors both in children and in adults, and to the development and investigation of Larotrectinib. This medication was granted approval by the US Food and Drug Administration for NTRK-positive tumors, regardless of histology or age group, as such, larotrectinib was the first in its kind to be approved under the premise that molecular pattern is more important than histology in terms of therapeutic approach. It yielded significant results in disease control with good tolerability across a wide range of diseases including rare pediatric tumors, salivary gland tumors, gliomas, soft-tissue sarcomas, and thyroid carcinomas. In addition, and by taking different approaches in clinical trial design and conducting allocation based on biomarkers, the effects of target therapies can be isolated and quantified. Moreover, and considering developing nations and resource-limited settings, precision oncology could offer a tool to reduce cancer-related disability and hospital costs. In addition, developing nations also present patients with rare tumors that lack a chance of treatment, outside of clinical trials. This, in turn, offers the possibility for international collaboration, and contributes to employment, education, and health service provisions. The reviews of this paper are available via the supplemental material section.

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“…Two new (compared to the SCDO) upper classes have been included, namely: 'Disease Attribute' and 'Modifier' (see Figure 2). The 'Disease Attribute' class (see Figure 5) incorporates content similar to the SCDO's 'Association' class but notably also includes a 'Disease Cause' sub-class, which was found necessary due to the varied and often complex causes of hearing impairments [19][20][21][22]. The 'Disease Cause' class contains the term 'Unknown Etiology' and the two subclasses 'Environmental Disease Cause' and 'Intrinsic Disease Cause' [23][24][25], which are populated comprehensively with factors that cause or contribute in some way to HI.…”

Section: Hio General Descriptionmentioning

confidence: 99%

The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research

Hotchkiss

Manyisa

Adadey

et al. 2019

Genes

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Hearing impairment (HI) is a common sensory disorder that is defined as the partial or complete inability to detect sound in one or both ears. This diverse pathology is associated with a myriad of phenotypic expressions and can be non-syndromic or syndromic. HI can be caused by various genetic, environmental, and/or unknown factors. Some ontologies capture some HI forms, phenotypes, and syndromes, but there is no comprehensive knowledge portal which includes aspects specific to the HI disease state. This hampers inter-study comparability, integration, and interoperability within and across disciplines. This work describes the HI Ontology (HIO) that was developed based on the Sickle Cell Disease Ontology (SCDO) model. This is a collaboratively developed resource built around the 'Hearing Impairment' concept by a group of experts in different aspects of HI and ontologies. HIO is the first comprehensive, standardized, hierarchical, and logical representation of existing HI knowledge. HIO allows researchers and clinicians alike to readily access standardized HI-related knowledge in a single location and promotes collaborations and HI information sharing, including epidemiological, socio-environmental, biomedical, genetic, and phenotypic information. Furthermore, this ontology illustrates the adaptability of the SCDO framework for use in developing a disease-specific ontology.

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Public Health Burden of Hearing Impairment and the Promise of Genomics and Environmental Research: A Case Study in Ghana, Africa

Cited by 12 publications

References 46 publications

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

GJB2 and GJB6 Mutations in Non-Syndromic Childhood Hearing Impairment in Ghana

Precision medicine and its implementation in patients with NTRK fusion genes: perspective from developing countries

The Hearing Impairment Ontology: A Tool for Unifying Hearing Impairment Knowledge to Enhance Collaborative Research

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