Articles related to GENOMICS

Relapsing MS treatment remains difficult, and new therapeutic targets have been investigated. S1P, a bioactive lysophospholipid signaling molecule present in several organs, including the central nervous system, is one such target. S1P plays a role in a variety of physiologic and pathophysiologic processes. S1P levels have been linked to disease progression in the brain parenchyma and cerebrospinal fluid of MS patients. There are 5 recognized S1PR subtypes, and depending on the receptor being targeted, their expression patterns and outcomes change. S1PRMs are a more recent class of RMS treatments, and the FDA has currently approved 4 of these treatments: fingolimod, siponimod, ozanimod, and ponesimod.

Among doctors and researchers, the 2010 and 2017 versions of the European LeukemiaNet (ELN) recommendations for the diagnosis and treatment of acute myeloid leukemia (AML) in adults are broadly accepted. Researchers now have a better understanding of how AML develops from a molecular perspective, which has led to an update on the classification of the disease. Additionally, genomic diagnostics and the evaluation of measurable residual disease have advanced significantly, and new therapeutic agents like FLT3, IDH1, IDH2, and BCL2 inhibitors have been developed successfully. This update, which contains updated response criteria, therapy suggestions, and a revised ELN genetic risk classification, is a result of these developments.

Adult-onset genetic disorders may present with clinical and brain imaging features suggestive of acquired inflammatory diseases. An ever-growing number of potentially treatable adult-onset genetic neuroinflammatory disorders have been described in the past few years that need to be rapidly identified. This review aims to provide insights to neurologists so they can confirm a diagnosis early, when some of these genetic disorders can be successfully treated.

Selecting effective antidepressants for the treatment of major depressive disorder is an imprecise practice. With remission rates of about 30% after the initial therapy selection, there is a need to uncover biomarkers able to predict treatment response. This study looked at pharmacogenomic testing for drug-gene interactions to guide treatment selection. Unfortunately, they did not find significantly improved outcomes.

The International Consensus Classification (ICC) of myeloid neoplasms and acute leukemia was developed as a result of the recent advances in doctors’ understanding of the biology of hematologic malignancies, the experience with the use of the 2016 WHO classification in clinical practice, and the results of clinical trials.

The KRASG12C mutation was more prevalent in females and older patients and appeared to be associated with smoking status. KRASG12C tumors exhibited a distinct co-mutation profile and were associated with tumor mutational burden-high status.