A collaboration between Karolinska Institutet, Karolinska University Hospital, and SciLifeLab has integrated whole genome sequencing into routine diagnostic investigations for rare diseases at Karolinska University Hospital. To date, more than 15,000 patients have had their entire genome sequenced, with 23 per cent receiving a genetic diagnosis, according to a study published in Genome Medicine. The … Read more
A new study published in the American Journal of Human Genetics offers a look at how genetic risk information can be returned to patients at scale—and where health systems still fall short. The research, conducted through the eMERGE network, a multi-site genomic medicine initiative, tracked the return of genome-informed risk assessments to nearly 24,000 adults … Read more
Researchers at the University of Gothenburg have identified a protein linked to an increased risk of metastasis and recurrence in lung cancer. The findings are presented in a study that paves the way for new precision medicine approaches, particularly for older patients. Lung cancer primarily affects older individuals. Despite this, many laboratory studies rely on … Read more
Scientists reveal how evolution within our own tissues can drive disease, protect cells, and uncover hidden therapeutic targets for future precision medicine. Somatic genomics uncovers the outcomes of evolutionary competitions within our tissues, which can drive disease, counter monogenic disease, or protect from common diseases In a recent study published in the journal Cell, researchers reviewed … Read more
Atherosclerosis underlies most heart attacks and strokes and is now recognized as a chronic inflammatory disease rather than a simple disorder of cholesterol deposition. While immune cells such as macrophages have been widely studied, emerging evidence shows that vascular smooth muscle cells also play a central role in plaque development. These cells exhibit remarkable plasticity, … Read more
IntroductionWhat Is a Digital Twin in Drug Discovery?Core Components of Digital TwinsApplications Across the Drug Discovery PipelineBenefits and Potential ImpactLimitations and ChallengesRelationship to AI and Machine LearningFuture OutlookReferencesFurther reading Digital twins introduce a shift from static, retrospective modeling to continuously learning systems that adapt as new biological and clinical evidence emerges. By linking mechanistic understanding … Read more
A new experimental cholesterol-lowering pill and recent advances in oral diabetes treatments are reinforcing a broader shift toward earlier, less invasive management of cardiometabolic disease, as drugmakers and clinicians focus on prevention, adherence, and risk reduction in high-risk populations. “There are other pills that patients can add to their statins, but none come close to … Read more
Genetic ancestry plays a key role in determining the behavior of head and neck tumors and may help explain why African-American patients survive for half as long as their counterparts of European ancestry, according to a new review study led by researchers from the University of Maryland School of Medicine’s (UMSOM) Institute for Genome Sciences … Read more
Biological differences between women and men led to variations in the appearance and progression of many diseases, which influenced diagnosis and response to treatments. These differences also affected the relationship between diseases, as they generated different combinations, risks, and patterns of joint appearance depending on sex. However, the biological mechanisms that explained these associations remained … Read more
A new single-cell profiling technique has mapped pre-malignant gene mutations and their effects in solid tissues for the first time, in a study led by investigators at Weill Cornell Medicine and the New York Genome Center. The research, published Dec. 31 in Cancer Discovery, demonstrates a practical method for simultaneously measuring specific DNA mutations and … Read more