Articles related to GENOMICS

The authors speculate that pharmacogenomic testing can identify patients at higher risk for adverse events related to drug-drug and drug-gene interactions based on the 29-year-old man’s prescription list and gene testing results. Potential drug-drug interactions should also be investigated, and patients should be appropriately monitored for adverse reactions. Before performing pharmacogenomic testing, consider the severity of potential reactions, cost, and the possibility of using an alternative regimen that avoids the interaction of concern entirely. As more is learned about pharmacogenomics and the potential personalization of therapeutic regimens, clinical considerations that warrant testing should be evaluated on a regular basis to facilitate both resource stewardship and optimal patient care.

Leukodystrophies, deficiency-related metabolic diseases, genetic and acquired toxic/metabolic causes, and mitochondrial diseases were identified as the genetic and metabolic disorders of adulthood producing spinal cord signal changes. A number of adult metabolic and genetic illnesses that cause spinal cord atrophy without signal changes have also been discovered. The classification based on spinal MRI results is also offered, along with suggestions for the diagnostic process and alternative diagnoses.

In this video-supported CME activity, an expert faculty panel will provide their perspectives and insights on the latest trends and emerging research in low-risk MDS, including guideline-directed diagnostic workup, RS evaluation and SF3B1 testing and their implications, currently approved and novel emerging treatment strategies for managing lower risk MDS, and strategies to mitigate and manage treatment-related adverse events.

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.