Building genomic capacity for precision health in Africa
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 …
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 …
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
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 …
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 …
The rich and diverse genomics of African populations is significantly underrepresented in
reference and in disease-associated databases. This renders interpreting the Next …
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 …
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 …
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 …
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 …
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 …
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 …
15/44) of multiplex families in Senegal. The present study aimed to use community-based …