Inside Precision Medicine

Comprehensive Genomic Profiling at Diagnosis Extends Survival in Patients with Advanced Cancer A new study from Providence presents a strong case for integrating complete gomic testing into the early stages of cancer diagnosis. The study demonstrates that implementing genomic profiling as part of the initial diagnostic workup can streamline treatment and increase access to precision therapies that substantially extend survival.

Behind the Breakthroughs: How to Turn $1,000,000 CAR Ts into “Real” Medicines In this episode of Behind the Breakthroughs, Helen Sabzevari, PhD, president and CEO of Precigen, discusses the barriers to implementing cell and gene therapies that impede the accessibility and implementation of precision medicine. Sabzevari also explains how key cell and gene therapy platform tools can provide safety measures, such as guardrails to cellular toxicity, and address cost by offering “off-the-shelf” efficient gene delivery vectors that can be used on-site, cutting out centralized manufacturing. https://hubs.li/Q02ZKhpF0

Novel Vaccine Shows Promise for Triple-Negative Breast Cancer Washington University School of Medicine in St. Louis researchers have developed a neoantigen DNA vaccine that has shown promising results in a phase I trial among patients with triple-negative breast cancer.

Early Research Suggests Congenital Heart Defects Linked to Placenta Research in mice suggests that genetic mutations in the SLC25A1 gene, which plays a role in placental development, could be behind some congenital heart defects. This work is early stage but provides interesting insights into the potential causes of some congenital heart defects and suggests that developing some kind of early treatment could be possible. https://hubs.li/Q02ZJBvm0

Scribe Therapeutics Verifies In Vivo CRISPR-Based Cardiometabolic Therapies For over a decade, Benjamin Oakes has been on a mission to develop a suite of genome and epigenome editing tools built for unique molecular advantages in activity, specificity, and deliverability that translate into safer and more effective genetic therapies, which led him to co-found Scribe Therapeutics in 2018 with Doudna, Savage, and Brett Staahl, PhD. This week at the American Heart Association (AHA) Scientific Sessions 2024, Scribe Therapeutics revealed that their genome editing and epigenetic modifying technologies are knocking on the door of clinical trials for major cardiometabolic diseases affecting millions of patients. https://hubs.li/Q02ZJyL10

Men with Cardiovascular Disease Risk Show Brain Health Decline a Decade Earlier than Women A long-term study by researchers at the Imperial College London and Cardiff University / Prifysgol Caerdydd suggests that men with cardiovascular disease (CVD) risk factors, including obesity, face cognitive decline as early as a decade before similarly affected women. The research, which analyzed data from 34,425 UK Biobank participants, found that men begin to experience significant brain health deterioration from their mid-50s to mid-70s, while women are most vulnerable from their mid-60s to mid-70s. https://hubs.li/Q02ZJbRx0

GLP-1 Obesity Drugs Also Provide Substantial Kidney Protection The biggest and most comprehensive analysis of GLP-1 receptor agonists on kidney and cardiovascular disease shows these drugs have significant benefits in people with and without diabetes. In both types of patients, the combined reduction in the risk of kidney failure, worsening kidney function, and death due to kidney disease was 19%. The study also confirmed that GLP-1 receptor agonists protect cardiovascular health. https://hubs.li/Q02ZJ8vz0

Genetics of Type 2 Diabetes in South Asians Explored Having a genetic predisposition to insulin deficiency and abnormal fat distribution around the body may explain why South Asian people seem to be at particularly high risk for early onset type 2 diabetes, shows new U.K. research. The cohort includes 11,678 people with type 2 diabetes and 1,965 women who experienced gestational diabetes, as well as more than 34,000 without diabetes. The results showed that people with high genetic risk for insulin deficiency had a worse response to a type of medication called a SGLT2 inhibitor and were more likely to progress from gestational diabetes to full blown type 2 diabetes. https://hubs.li/Q02ZyS8m0

Atherosclerotic Plaque Mapping Could Predict Stroke or Heart Attack Risk Genetic traits influence the composition of atherosclerotic plaque and affect patient risk of stroke or heart attack, according to a new study from researchers at the Karolinska Institutet and collaborators. Using genetic data, the researchers were able to categorize patients into three different risk groups. The researchers combined scRNAseq data with clinical, genetic, and transcriptomic data from a large biobank of human plaques—the Biobank of Karolinska Endarterectomies. https://hubs.li/Q02ZyT380

Tamoxifen Response Rate Influenced by Gut Microbiome Researchers from UC Irvine have shown that variability in the gut microbiome can impact the pharmacokinetics of tamoxifen, which could explain why roughly 50% of women with breast cancer don’t respond to the treatment that reduces the risk of cancer recurrence. The finding published in the journal mBio of the American Society for Microbiology, suggests that a simple stool test might one day help doctors predict which patients are most likely to benefit from the drug. https://hubs.li/Q02ZyT6S0