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Precision Medicine

All articles tagged with #precision medicine

PsychAD Consortium Maps 6.3 Million Brain Cells to Link Genetic Risk with Cellular Disease Mechanisms
science17 days ago

PsychAD Consortium Maps 6.3 Million Brain Cells to Link Genetic Risk with Cellular Disease Mechanisms

A coordinated series of nine papers led by the PsychAD Consortium has released the largest single-cell transcriptomic atlas of the human brain to date. The primary study, published in Nature, analyzes over 6.3 million nuclei from 1,494 donors to map molecular changes across eight brain disorders, including Alzheimer’s, Parkinson’s, and schizophrenia. The research identifies shared cellular vulnerabilities across diseases, particularly in immune and vascular cells, while distinguishing specific signatures for neurodegenerative versus psychiatric conditions. Complementary studies link genetic risk variants to specific cell types and develop AI frameworks for personalized Alzheimer’s progression. The findings suggest that while many brain disorders share common molecular pathways, distinct cellular responses drive individual disease trajectories, offering new targets for therapeutic intervention.

GLP-1 Non-Responders: Scientists Probe Hormonal and Genetic Drivers of Variable Weight Loss
health18 days ago

GLP-1 Non-Responders: Scientists Probe Hormonal and Genetic Drivers of Variable Weight Loss

While GLP-1 medications like semaglutide and tirzepatide help many patients lose significant weight, 10–15% of users experience minimal or no results. Researchers are investigating why this occurs, with early evidence pointing to biological sex, oestrogen levels, and genetic factors as key drivers of individual response. The Endocrine Society has designated understanding this heterogeneity as a priority to enable personalized treatments.

MEG Scans Reveal Five Distinct Brain Profiles for Depression, Challenging Uniform Diagnosis
health19 days ago

MEG Scans Reveal Five Distinct Brain Profiles for Depression, Challenging Uniform Diagnosis

A University of Helsinki study using magnetoencephalography (MEG) identified five distinct neurophysiological subtypes of major depressive disorder. By analyzing functional brain connectivity in 263 patients, researchers found that individuals with the same clinical diagnosis can exhibit opposite brain activity patterns, ranging from hyper-connectivity linked to substance abuse to hypo-connectivity associated with PTSD. This suggests depression is biologically heterogeneous, potentially explaining conflicting prior research and paving the way for personalized treatment, though clinical application is not yet immediate.

AI in Oncology: From Hype to Curated Clinical Tools Amid a Data Tsunami
health-and-technology19 days ago

AI in Oncology: From Hype to Curated Clinical Tools Amid a Data Tsunami

Artificial intelligence is increasingly used in cancer care, but its impact varies from promising detection tools to curated clinical decision support. While big tech promises cures, practical applications focus on managing information overload, with tools like Onqo Health's Easy Oncology gaining traction among oncologists. AI excels in pattern recognition but faces risks of bias and overreliance, necessitating human oversight.

Birth-genome screening could reshape early childhood care
public-health1 month ago

Birth-genome screening could reshape early childhood care

Global genomic newborn-screening studies (eg, GUARDIAN, BabyScreen+, BabyDetect) are testing broad sequencing on dried-blood spots to flag treatable conditions not covered by traditional panels. Early results suggest confirmable findings in about 1–3% of infants, with some cases prompting life-saving interventions like bone-marrow transplants and earlier seizure treatment. While promising, researchers and ethicists debate cost, scalability, which genes/conditions to include, how to report results, and the potential for privacy or discrimination, as families’ experiences with counseling and communication vary.

DNA clues could forecast blood cancer progression years before diagnosis
health2 months ago

DNA clues could forecast blood cancer progression years before diagnosis

A small study of 30 patients with myeloproliferative neoplasms found that new DNA changes in blood cells often appeared years before routine tests showed progression, with stable disease showing little genetic change and cases advancing toward myeloid leukemia. Some participants developed AML, while others remained stable; patterns were also linked to common treatments (hydroxyurea and azacitidine) but did not prove causation. The findings are associative and limited by size, yet suggest that serial DNA monitoring could enable earlier, more personalized monitoring and potentially guide future targeted interventions.

Early screening and genomic profiling reshape lung cancer care
health2 months ago

Early screening and genomic profiling reshape lung cancer care

Lung cancer is the leading cause of cancer deaths, with NSCLC making up 80–85% of cases. Annual low-dose CT screening is recommended for adults 50–80 with a 20-pack-year history to detect cancer early. Comprehensive genomic profiling (biomarker testing) identifies actionable targets in many NSCLC cases, guiding personalized treatment and helping choose the best options—often after CGP results are available. Patients and families should advocate for CGP and awareness of screening, as early detection and precision medicine drive better outcomes.

KRAS Vaccine Shows Promise in Intercepting Pancreatic Cancer
science2 months ago

KRAS Vaccine Shows Promise in Intercepting Pancreatic Cancer

Phase I trial of the KRAS-targeting vaccine mKRAS-VAX in 20 high‑risk individuals with pancreatic abnormalities showed 90% developed a robust immune response against six KRAS mutations, with memory cells detectable up to two years; no pancreatic cancer or high‑risk lesions developed during a median follow‑up of 16.5 months, and some precursor cysts regressed, supporting larger trials to test cancer interception.

Two Brain Signatures Divide Autism Into Distinct Subtypes
science4 months ago

Two Brain Signatures Divide Autism Into Distinct Subtypes

A large international study analyzed brain connectivity in about 940 autistic individuals and over 1,000 neurotypical controls, plus mouse models, and found two reproducible autism subtypes: a hyperconnectivity subtype with stronger inter-regional brain communication linked to immune-related pathways, and a hypoconnectivity subtype with reduced communication linked to synaptic pathways. Together these subtypes account for roughly 25% of autism cases and provide a biology-based framework for precision, personalized approaches to care.

Smart drugs and precision medicine reshape cancer care at ASCO 2026
health4 months ago

Smart drugs and precision medicine reshape cancer care at ASCO 2026

At ASCO 2026, researchers showcased ‘smart’ drugs that lift cancer cells’ invisibility cloaks to boost immunotherapy, with GRWD5769 plus cemiplimab shrinking tumors across several cancer types; other agents like ivonescimab and ozekibart show promise. A daily pill, daraxonrasib, doubled survival in metastatic pancreatic cancer, and mezigdomide added to therapy extended progression-free survival in multiple myeloma. A genomic test could allow many breast cancer patients to skip chemotherapy, while durvalumab added to chemoradiation may spare bladder-sparing surgery. Yet the Galleri multi-cancer test failed to reduce late-stage diagnoses, and rising incidence plus a looming cancer-care workforce gap stress health systems. Lifestyle changes such as better sleep and yoga may also improve outcomes for patients and survivors.

Precision drugs extend cancer survival, turning it into a chronic condition
health4 months ago

Precision drugs extend cancer survival, turning it into a chronic condition

Advances in targeted therapies and precision medicine are enabling more people to live with cancer longer, shifting the disease from an imminent death sentence to a chronic condition for many patients. While survival improves across cancers, the era of targeted drugs also highlights ongoing challenges around access, affordability, and managing long-term treatment effects.

Living Location Alters Aging Pace, Global Study Finds
science4 months ago

Living Location Alters Aging Pace, Global Study Finds

A world-spanning study profiled 322 people from Europe, East Asia, and South Asia, analyzing DNA, proteins, fats, gut bacteria, immune markers, and metabolites. It found that ancestry provides a baseline for immunity, metabolism, and the microbiome, but where people live also reshapes aging trajectories—different populations show distinct aging patterns when relocated. East Asians outside their region aged biologically faster; Europeans aged more in Europe; gut microbes linked to sphingolipids were tied to telomere maintenance. The work underscores that precision medicine must account for both genetics and environment, and is published in Cell (2026).

Low-Dose Aspirin May Lower Colorectal Cancer Recurrence in Genetically Defined Patients
health5 months ago

Low-Dose Aspirin May Lower Colorectal Cancer Recurrence in Genetically Defined Patients

In the ALASCCA randomized trial across 33 hospitals, daily 160 mg aspirin after colorectal cancer surgery reduced recurrence by about half for patients with PI3K pathway mutations or related alterations (7.7% vs 14.1% and 7.7% vs 16.8%), with improved 3-year disease-free survival (~89% vs 79–81%), but higher severe side effects (16.8% vs 11.6%), suggesting a low-cost, genetics-driven post-surgical option pending guidelines.

AI maps bowel cancer genetics to predict bevacizumab response
health6 months ago

AI maps bowel cancer genetics to predict bevacizumab response

Researchers from the Institute of Cancer Research and RCSI used PhenMap, an AI tool, to analyze tumour genetics in 117 European advanced bowel cancer patients treated with bevacizumab, identifying patterns that predict non-response and potentially sparing thousands from ineffective treatment and side effects; the team plans to broaden testing and validate the approach for broader clinical use.

Genes influence GLP-1 weight-loss drug responses and side effects
health6 months ago

Genes influence GLP-1 weight-loss drug responses and side effects

Genetic differences, including a GLP1R variant and a GIPR variant, modestly affect how much weight people lose and their risk of nausea on GLP-1 obesity drugs; the weight-loss difference is small—about 1.7 lb more at eight months for one copy and ~3.3 lb for two copies. A GIPR variant was linked to higher nausea with tirzepatide. Separately, higher GLP-1 doses may confer cardiovascular benefits that seem independent of weight loss, suggesting dosing could optimize heart outcomes; tissue data indicate potential direct cardiac effects, warranting further study.