Articles related to GENOMICS

The recent study on MCL reveals a promising approach in identifying high-risk patients through the combination of MIPI-c and p53 overexpression. This method may guide the development of targeted therapies and personalized treatment plans, addressing the unmet needs of those at the highest risk.

Discover the pioneering research connecting marijuana use with modifications in the human epigenome. The study brings to light potential health implications and illuminates areas for future exploration.

Physicians, take note: as scientific understanding of the genetics of aging deepens, potential interventions for age-related diseases may be on the horizon. Keep abreast of this promising field to better guide your patients towards healthy aging.

Dive into the intriguing relationship between POT1 mutations and long telomere length in relation to cellular aging and cancer development. The study, funded by the National Institutes of Health, closely examines the effects of POT1 mutations, a telomere-related gene, on aging and cancer. Specifically, they focused on individuals with heterozygous loss-of-function mutations in POT1 and their noncarrier relatives. Initially, they assessed 17 POT1 mutation carriers alongside 21 noncarrier relatives. Moreover, they incorporated a validation cohort of six additional mutation carriers. They found that a substantial majority, specifically 9 of the 13 evaluated, of the POT1 mutation carriers possessed long telomeres – a rare case falling above the 99th percentile. In contrast, the study identified a variety of benign and malignant neoplasms in POT1 mutation carriers affecting different tissues, including epithelial, mesenchymal, and neuronal, along with B- and T-cell lymphoma and myeloid cancers. Additionally, they found that 28% of POT1 mutation carriers had T-cell clonality. This percentage rose to 67% when evaluating for clonal hematopoiesis of indeterminate potential. With age, this predisposition to clonal hematopoiesis followed an autosomal dominant pattern of inheritance. Interestingly, common somatic hotspot mutations, specifically DNMT3A and JAK2, frequently occurred. They theorize that these somatic driver mutations arose […]

Pfizer and Thermo Fisher Scientific have partnered to expand access to next-generation sequencing (NGS)-based testing for lung and breast cancer patients in over 30 countries across Latin America, Africa, the Middle East, and Asia. The collaboration aims to address the limited availability of advanced genomic testing in these regions. Local access to NGS testing can provide faster analysis of associated genes, enabling healthcare providers to select the most appropriate therapy for individual patients. Thermo Fisher will identify local laboratories that will use their NGS technology and ensure they meet industry standards, while Pfizer will explore ways to make NGS testing affordable and raise awareness among healthcare providers. The companies plan to expand geographically and extend testing to other types of cancer. The global burden of cancer is expected to rise significantly, with breast and lung cancer being the leading types responsible for millions of deaths worldwide. To improve treatment outcomes, the collaboration seeks to deliver precision insights to underserved patients through rapid NGS testing conducted in decentralized labs closer to where patients are treated. The program aims to provide tailored care for cancer patients worldwide, acknowledging that individualized approaches based on precise disease characteristics are often required. By adopting next-generation […]

Pharmacogenomics (PGx) researches how germline (or inherited) alterations impact a person’s receptivity to medication. Almost everyone has a clinically significant variant of one or more pharmacogenes. Genetic variations in PK, PD, and HLA are linked to variations in drug response. Evidence only supports the utility of PGx testing for the four genes CYP2C19, CYP2D6, HLA-B15:02, and HLA-A31:01 in mental health. Fill out the CPE exam and submit it online at www.pharmacist.com/education if you’re interested in receiving 1 hour of CPE credit for this activity.