Articles related to GENOMICS

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.

A new gene editing technique has been developed that can potentially help reverse vision loss. Researchers have used the technique, called ‘prime editing,’ to target and correct the genetic mutation that causes retinitis pigmentosa, a genetic eye disease that causes progressive vision loss and eventually blindness. The study was conducted on mice, and the technique was able to restore visual function in the mice, demonstrating the potential of prime editing as a treatment for retinitis pigmentosa. As an optometrist, it’s important to keep up-to-date with advancements in the field of gene editing and the potential implications for treating genetic eye diseases. This new prime editing technique, demonstrated to reverse vision loss in mice with retinitis pigmentosa, shows promise as a potential treatment for the disease in humans. As further research is conducted, it will be important for optometrists to stay informed about developments in this area and be prepared to discuss potential treatments with their patients.

In this video, Dr. Robert Vonderheide, the Director of the Abramson Cancer Center at Penn Medicine, discusses cancer interception, an approach to cancer treatment that involves identifying and treating pre-cancerous cells before they develop into tumors. Dr. Vonderheide explains that cancer interception involves using genomic sequencing to identify cells that are at high risk of developing into cancer and then using drugs or other treatments to kill these cells before they become cancerous. He notes that cancer interception has the potential to be a highly effective form of cancer treatment, but that it requires a collaborative approach between researchers, clinicians, and patients. Dr. Vonderheide also discusses the role of immunotherapy in cancer interception and the challenges associated with developing effective interception strategies for different types of cancer.

Researchers studying acute myeloid leukemia (AML) have been able to better characterize the disease, improve risk-stratification methods, and create new treatments thanks to the era of genomic medicine. Despite major advancements, AML’s extremely intricate and plastic cellular architecture means that it is still a fatal malignancy. Because it makes it difficult to pinpoint and then eliminate the cells that cause leukemogenesis and therapy failure, this level of heterogeneity continues to be a significant obstacle. Single-cell genomics has made unheard-of advancements in the study of cellular heterogeneity in recent years, and it shows promise for the investigation of AML.

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.