Articles related to GENETIC TESTING/MUTATIONS

PDE4 is linked to alcohol and nicotine addiction, so the researchers prioritized apremilast, a newer PDE4 inhibitor for psoriasis, as ideal for repurposing and tested it in multiple animal strains and models, as well as a human Phase IIa study. In mouse models of genetic risk for drinking to intoxication, they discovered that apremilast reduced binge-like alcohol intake and behavioral measures of alcohol motivation.

AvaGenTM is the first personalized genetic eye test that quantifies the risk of keratoconus and the presence of TGFBI corneal dystrophies based on gene variants. AvaGen provides a valuable tool for early and accurate decision-making that protects patients’ and their families’ vision.

Genetic tools such as CRISPR could enable creating a close approximation Neanderthal or other lost species DNA. Harvard geneticist George Church, PhD, argued some potential benefits to humans. But what are the potential implications and how should the question be weighed?

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.

With just a few exceptions (p.I157T, p.S428F, and p.T476M), CHEK2 PVs were linked to comparable cancer phenotypes regardless of the variation type. Although CHEK2 PVs were linked to breast, kidney, and thyroid malignancies, they were not linked to colorectal cancer. The prevalent p.I157T, p.S428F, and p.T476M alleles have a weaker connection with breast cancer compared to other CHEK2 PVs and were not related with non-breast malignancies. These findings might help with genetic counseling and care for those with CHEK2 PVs.

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.