The thirteenth conference of the African Society of Human Genetics with the theme "harnessing genomics and translational research to improve health in Africa" was held in Dar es Salaam, Tanzania, in August 2021, using a hybrid in-person and virtual model for participation in the wake of COVID-19 pandemic. During the meeting, African research across various human genetics disciplines was presented, including talks on the genetics of infectious and non-communicable diseases, population genetics, and translational research. The meeting also featured presentations on pharmacogenomics, genetics of developmental disorders, cancer genetics and genetics of rare diseases. In-depth discussions on ethical legal and social issues in genomics research and community and patient engagement were also key sessions of this meeting. The primary focus of the conference and the discussions was how to translate the wealth of genomic research in the continent into improved health outcomes in the continent. In this report, we summarize the key scientific research relevant to Africa presented and discussed during the meeting providing an overview of the progress of human genetics in the continent. We also discuss opportunities and challenges of harnessing genomics for health improvement in Africa.
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http://dx.doi.org/10.11604/pamj.2024.49.79.42550 | DOI Listing |
It is known that inhibition of the endoplasmic reticulum transmembrane signaling protein (ERN1) suppresses the glioblastoma cells proliferation. The present study aims to investigate the impact of inhibition of ERN1 endoribonuclease and protein kinase activities on the , , and gene expression in U87MG glioblastoma cells with an intent to reveal the role of ERN1 signaling in the regulation of expression of these genes. The U87MG glioblastoma cells with inhibited ERN1 endoribonuclease (dnrERN1) or both enzymatic activities of ERN1 (endoribonuclease and protein kinase; dnERN1) were used.
View Article and Find Full Text PDFGenetic factors contribute to the development of metabolic syndrome and subsequent arterial hypertension (AH). The study of the T786C polymorphism of the endothelial nitric oxide synthase (eNOS) gene in arterial hypertension is important as its correlation with adipokine imbalance is a novelty area to find associations between hypertension development, obesity, and heredity. The purpose of the current study was to investigate serum adipokines levels, depending on the T786C polymorphism of the eNOS in patients with arterial hypertension.
View Article and Find Full Text PDFEndocr Regul
January 2025
1Department of Molecular Biology, Palladin Institute of Biochemistry, National Academy of Sciences of Ukraine, Kyiv, Ukraine.
For the effective growth of malignant tumors, including glioblastoma, the necessary factors involve endoplasmic reticulum (ER) stress, hypoxia, and the availability of nutrients, particularly glucose. The ER degradation enhancing alpha-mannosidase like protein 1 (EDEM1) is involved in ER-associated degradation (ERAD) targeting misfolded glycoproteins for degradation in an N-glycan-independent manner. EDEM1 was also identified as a new modulator of insulin synthesis and secretion.
View Article and Find Full Text PDFOncotarget
March 2025
Worldwide Innovative Network (WIN) Association - WIN Consortium, Chevilly-Larue, France.
The human genome project ushered in a genomic medicine era that was largely unimaginable three decades ago. Discoveries of druggable cancer drivers enabled biomarker-driven gene- and immune-targeted therapy and transformed cancer treatment. Minimizing treatment not expected to benefit, and toxicity-including financial and time-are important goals of modern oncology.
View Article and Find Full Text PDFJ Immunol
January 2025
Department of Pharmaceutical Sciences, University of Connecticut, Storrs, CT, United States.
Poliovirus receptor (PVR) ligands have gained attention as immunotherapy targets, yet their regulation remains unclear. Here, we examine the impact of PVR exposure on primary human CD8+ T cells. We used flow cytometry and Western blot analysis to quantify expression of PVR and its ligands in naïve and effector T cells and used adhesion assays and enzyme-linked immunosorbent assay (ELISA) to assess the impact of PVR on T cell adhesion and cytokine production.
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