Building genomic capacity for precision health in Africa

A Olono, V Mitesser, A Happi, C Happi - Nature Medicine, 2024 - nature.com
The African continent is poised to have a pivotal role in the global population landscape,
with the United Nations projecting a population of 2.5 billion (more than 25% of the global …

Global distribution of founder variants associated with non-syndromic hearing impairment

ET Aboagye, SM Adadey, E Wonkam-Tingang… - Genes, 2023 - mdpi.com
The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous
with over 124 distinct genes identified. The wide spectrum of implicated genes has …

Ensembles of human myosin-19 bound to calmodulin and regulatory light chain RLC12B drive multimicron transport

LW Pollard, SM Coscia, G Rebowski, NJ Palmer… - Journal of Biological …, 2023 - ASBMB
Myosin-19 (Myo19) controls the size, morphology, and distribution of mitochondria, but the
underlying role of Myo19 motor activity is unknown. Complicating mechanistic in vitro …

Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working …

A Lumaka, N Carstens, K Devriendt, A Krause… - Orphanet Journal of …, 2022 - Springer
The rich and diverse genomics of African populations is significantly underrepresented in
reference and in disease-associated databases. This renders interpreting the Next …

Conditional ablation of glucocorticoid and mineralocorticoid receptors from cochlear supporting cells reveals their differential roles for hearing sensitivity and dynamics …

CC Barnes, KT Yee, DE Vetter - International Journal of Molecular …, 2023 - mdpi.com
Endogenous glucocorticoids (GC) are known to modulate basic elements of cochlear
physiology. These include both noise-induced injury and circadian rhythms. While GC …

Whole exome sequencing reveals known and candidate genes for hearing impairment in Mali

A Yalcouyé, I Schrauwen, O Traoré, S Bamba… - Human Genetics and …, 2024 - cell.com
Hearing impairment (HI) is the most common neurosensory disorder globally and is reported
to be more prevalent in low-income countries. In high-income countries, up to 50% of …

[HTML][HTML] Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes

Y Jin, X Liu, Q Zhang, Y Xiong, Y Hu, H He, W Chen… - Biomedicines, 2024 - mdpi.com
Background: Hearing loss (HL) is the most common disorder in newborns with a highly
heterogeneous genetic background. Despite significant progress in screening and …

Precision medicine shows promise to advance the care of individuals with hearing loss

M Pei, BM Colbert, MR Smeal, SH Blanton… - Medical Research …, 2022 - esmed.org
Hearing loss (HL) is the most common sensory disorder worldwide and arises from a
heterogeneous set of genetic and environmental etiologies. Currently, therapy for …

Are we genetically literate enough for global precision health?

A Wonkam - The Lancet, 2023 - thelancet.com
Leroy Hood and Nathan Price argue with passion, excellence, and personal experience for
a proactive approach to achieving the real potential of precision health, developed around …

Childhood Hearing Impairment in Senegal

Y Dia, B Loum, YJKB Dieng, JPD Diop, SM Adadey… - Genes, 2023 - mdpi.com
We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1%(n=
15/44) of multiplex families in Senegal. The present study aimed to use community-based …