Genomic Testing in Brazil: Navigating Challenges and Harnessing Opportunities for Global Health Impact.

JCO Glob Oncol

Department of Oncology, Division of Radiation Oncology, Queen's University, Kingston, Canada.

Published: January 2025

Download full-text PDF

Source
http://dx.doi.org/10.1200/GO-24-00545DOI Listing

Publication Analysis

Top Keywords

genomic testing
4
testing brazil
4
brazil navigating
4
navigating challenges
4
challenges harnessing
4
harnessing opportunities
4
opportunities global
4
global health
4
health impact
4
genomic
1

Similar Publications

Rearrangements of cytokine receptor-like factor 2 gene (CRLF2) are present in ∼50% of B-lymphoblastic leukemia/lymphoma (B-ALL) with BCR::ABL1-like features. Herein, we report three patients with CRLF2-rearranged mixed phenotype acute leukemia (MPAL). All three cases were B/myeloid MPAL in young patients harboring P2RY8::CRLF2 or IGH::CRLF2 with additional genomic alterations in signaling (JAK and RAS) and cell cycle (CDKN2A/B) pathways, a genomic profile similar to that in BCR::ABL1-like B-ALL.

View Article and Find Full Text PDF

Appraising the Effects of Gut Microbiota on Insomnia Risk Through Genetic Causal Analysis.

Am J Med Genet B Neuropsychiatr Genet

January 2025

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.

BackgroundInsomnia is a common neurological disorder that exhibits connections with the gut microbiota; however, the exact causal relationship remains unclear. MethodsWe conducted a Mendelian randomization (MR) study to systematically evaluate the causal effects of genus-level gut microbiota on insomnia risk in individuals of European ancestry. Summary-level datasets on gut microbiota were sourced from the genome-wide association study (GWAS) of MiBioGen, while datasets on insomnia were obtained from the GWAS of Neale Lab and FinnGen.

View Article and Find Full Text PDF

Metabolic engineering of Priestia megaterium for 2'-fucosyllactose production.

Microb Cell Fact

January 2025

Department of Chemical & Biological Engineering, Korea University, Seoul, 136-763, Korea.

Background: 2'-Fucosyllactose (2'-FL) is a predominant human milk oligosaccharide that significantly enhances infant nutrition and immune health. This study addresses the need for a safe and economical production of 2'-FL by employing Generally Recognized As Safe (GRAS) microbial strain, Priestia megaterium ATCC 14581. This strain was chosen for its robust growth and established safety profile and attributing suitable for industrial-scale production.

View Article and Find Full Text PDF

Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.

View Article and Find Full Text PDF

Background: The prevalence of chronic kidney disease (CKD) is estimated to be about 13.4% worldwide. Studies have shown that CKD accounts for up to 2% of the health cost burden.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!