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This Review provides a timely overview of new technological advances and treatment approaches, with a particular emphasis on brain-circuit-based interventions for precision psychiatry.
The largest whole-exome sequencing study of individuals with premature ovarian insufficiency (POI) so far identifies 20 new disease-associated genes, yields an overall genetic contribution to POI of 23.5%, and provides detailed characterization of the genetic landscape of this disorder.
Smoldering multiple myeloma is an asymptomatic precursor condition to multiple myeloma, a cancer in the bone marrow. We conducted a population-based screening study — in which 51% of the population over 40 years of age in Iceland participated — and found that the prevalence of smoldering multiple myeloma was 0.5% in the study population.
A study prospectively evaluating a stratified approach to selecting treatment heralds a new era of precision medicine for type 2 diabetes, which should incorporate ongoing discovery, social determinants of health and healthcare transformation.
In a phase I trial, the combination of dabrafenib, trametinib and spartalizumab uncovers the crosstalk between the MAPK pathway and the immune system, which offers a promising new strategy to improve clinical outcomes.
Tumor mutation burden is an imperfect predictor of response to immunotherapies. Mutations in regions of the genome unlikely to undergo loss during tumor evolution constitute a persistent tumor mutation burden that may drive sustained immunological tumor control in the context of cancer immunotherapy.
We demonstrate the power of a data-informed medicines-based approach in discovering the indirect effect of the COVID-19 pandemic on cardiovascular events using 1.32 billion records of dispensed medications in England, Scotland and Wales. We estimate that interruption of preventive care could result in more than 13,000 extra cardiovascular events.
By performing a large-scale biobank-based genome-wide association study, we identified a strong link between the underlying risk of cardiometabolic disease and patterns of lifelong medication use in hyperlipidemia, hypertension and type 2 diabetes. We discover hundreds of genetic predictors of medication use behavior and show medication-use-enhanced applications for polygenic prediction in cardiometabolic diseases.
The cause of pregnancy loss or perinatal death often remains unexplained, even following a standard autopsy. Comprehensive genomic investigation of pregnancy loss or perinatal death identifies a cause in over 50% of cases, particularly where congenital abnormalities are present. Causes of stillbirths without congenital abnormalities remain difficult to identify.
Clinical trials in neurological diseases often involve subjective, qualitative endpoints, such ‘by eye’ observations of movement. We developed an artificial intelligence–based method to analyze natural daily behavior data from people with Duchenne muscular dystrophy, using machine-learning algorithms to accurately predict their personal disease trajectories better than conventional clinical assessments.
As another clinical trial of a mitochondria-targeting cancer therapy faces failure, it calls for a thorough re-evaluation of the strategy; the time has come to go from the bedside back to the bench.
Moving away from the traditional ‘tumor-centric’ view, the authors explore how systemic biology, as well as aging, co-morbidities and co-medications, all interact and influence cancer development and progression.
The large, ongoing CIRCULATE-Japan trial is investigating the role of circulating tumor DNA (ctDNA)-based molecular residual disease testing in patients with resectable colorectal cancer after radical surgery. An interim analysis of GALAXY, a prospective, observational arm of CIRCULATE-Japan, establishes ctDNA as a prognostic and predictive biomarker.
A clinical trial shows the feasibility of a noninvasive imaging approach to diagnose a surgically amenable subtype of primary aldosteronism — a common and often poorly managed form of hypertension.
Technological advances are transforming evidence generation in medicine; for these advances to impact public health, the clinical trial landscape must evolve and adapt to keep pace.
A phase 1 trial using an allogeneic stem-cell-based therapy in people with progressive multiple sclerosis (MS) shows the feasibility and tolerability of the approach; rigorous evaluation of this and other regenerative strategies for MS is now urgently needed.
A machine learning algorithm identifies four reproducible clinical subphenotypes of long COVID from the electronic health records of patients with post-acute sequelae of SARS-CoV-2 infection within 30–180 days of infection; these patterns have implications for the treatment and management of long COVID.
Automated insulin delivery systems that are already used in type 1 diabetes show promise for patients with type 2 diabetes, and are poised to have a substantial effect on public health.
Prospective, longitudinal clinical studies incorporating high-throughput, single-cell analyses could identify which bacterial antigens to include in TB vaccines — and which to avoid.
