Articles related to Medical Genetics

In the realm of rare diseases, early diagnosis is a critical challenge. Machine learning is emerging as a pivotal tool in identifying familial amyloid polyneuropathy (FAP) patients, promising a new era of precision in genetic testing and timely treatment initiation.

Unveiling the Secret to Superior Cognitive Health in the Oldest-Old In a breakthrough research, an understanding of the resistance of certain 90+ individuals to neurodegenerative pathologies leading to superior cognitive abilities emerges, presenting avenues for preserving cognitive health in advanced ages. Key Points: “There are some individuals who can maintain high levels of cognitive function well into advanced ages. Further research into the factors that enable these individuals to maintain their cognitive function could provide insights into how to preserve cognitive health despite advanced age.” María M. Corrada, ScD, co-principal investigator of the study

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.

A 29-year-old woman bought a genetic test that includes BRCA analysis. She comes to you with the results and asks for guidance. The results are negative for BRCA1 and BRCA2, but she has a positive family history for breast cancer. What do you advise?

A quartet of current clinical trials involving first-in-class molecules and CRISPR gene editing show great promise. STELLAR investigates a fusion protein in PAH, CodeBreak 200 studies a first-in-class of KRAS inhibitor, EMERGENT-2 focuses on a new treatment for schizophrenia, and NCT04601051 studies a gene editing drug for one form of amyloidosis.

Diabetes medications, such as metformin, have glucose-independent effects on the male reproductive system. However, until now, it was unknown if these effects lead to birth defects in offspring. This study concludes that metformin intake in men is associated with major birth defects, particularly genital birth defects in boys.