Advances in MOLECULAR DIAGNOSTICS & PRECISION MEDICINE

Gene therapy offers potential to extend lives of children with rare immune disorder

An investigational gene therapy restored immune function in all nine children with LAD-I in a UCL-led international trial.Readmore

Advanced genetic blueprint could unlock precision medicine

Advances in genetic representation could make a major contribution towards advancing precision medicine.Readmore

Cracking the code of life's molecular machinery

UWA-led research reveals 3D molecular models of protein-DNA/RNA interactions, unlocking new possibilities for diagnostics, gene regulation, and sustainable biotechnology.Readmore

Study sheds light on how inherited cancer mutations drive tumor growth

WashU researchers reveal how inherited mutations in blood may raise future cancer risk.Readmore

New key genes in Parkinson’s disease identified using CRISPR technology

Northwestern Medicine scientists have uncovered new Parkinson’s risk genes, revealing potential novel drug targets.Readmore

Research fine tunes tools used to search for genetic causes of asthma

New study from UChicago combines genetic data and new computational tools to identify likely genetic variants that cause childhood- and adult-onset asthma.Readmore

Weill Cornell and NYGC study reveals new method for cancer detection

Weill Cornell and NYGC developed a cost-effective liquid biopsy method using whole-genome sequencing and error correction to detect ultra-low levels of tumor DNA.Readmore

Puberty triggers brain rewiring in genetic condition tied to autism

Puberty alters brain connectivity in 22q11.2 deletion syndrome, revealing a link to autism and schizophrenia risk.Readmore

Researchers Identify Growing List of Genetic Disorders Treatable Before or Immediately After Birth

Researchers have identified nearly 300 genetic disorders treatable before or just after birth, enabling earlier interventions to improve prenatal and newborn outcomes.Readmore

New Gene Editing Tool Shows Promise for Treating Diseases with Multiple Mutations

‘STITCHR’ uses an RNA system to replace entire genes, offering a practical and economically feasible innovation that addresses limitations of current gene-editing technologiesReadmore

A molecular stool test may enhance tuberculosis detection in adults living with HIV.

The Xpert MTB/Ultra molecular diagnostic test, previously recommended only for children’s stool samples, shows potential as an additional tool for diagnosing tuberculosis in adults with HIV.Readmore

Genetic predisposition to sedentary behaviour increases the risk of cardiovascular diseases

A University of Jyväskylä study links genetic predisposition to sedentary behavior with up to a 20% increased risk of cardiovascular diseases.Readmore

Tulane researchers use AI to improve diagnosis of drug-resistant infections

Tulane scientists developed an AI tool to quickly detect antibiotic resistance, aiding faster treatment of deadly infections.Readmore

Researchers identify “master regulator” gene that could lead to more effective treatment for patients with ovarian cancer

Two cancer drugs increase the expression of a potential biomarker that correlates with improved survival outcomes in patients with treatment-resistant ovarian cancer.Readmore

Precision medicine may pave the way for combating antibiotic resistance more effectively.

Precision medicine may help treat antibiotic-resistant infections, aided by new plasmid-mapping research.Readmore

How microRNAs serve as a master blueprint guiding brain development.

Scripps Research scientists uncover how microRNAs direct the development of Purkinje cells, specialized neurons associated with neurodevelopmental disorders.Readmore

New Study Reveals the Curative Potential of Genome Editing Approach for Genetic Deafness

Scientists use adeno-associated virus (AAV) as a vector along with gene editing technology to potentially treat hereditary deafnessReadmore

Researchers develop new way to match young cancer patients with the right drugs

A pan-Canadian team has developed a new way to quickly find personalized treatments for young cancer patients, by growing their tumours in chicken eggs and analyzing their proteins.Readmore

Research Finds Potential “Molecular Mimics” Behind COVID-Induced Autoimmune Disease

COVID-19 molecular mimics may trigger autoimmunity, with AI revealing genetic risk factors for targeted treatment.Readmore

The University of Barcelona, Cetir Ascires and the QUAES Foundation create a chair to promote metabolic therapy against cancer

To promote metabolic therapy, an innovative treatment in the fight against cancer, and to improve its implementation in the health system.Readmore

The Role of Constrained Genes in Cellular Function

University of Miami researchers identified constrained genes vital to cell function, linking them to rare diseases and therapies.Readmore

Interrogating challenging genomic regions provides new answers for patients

At ACMG 2025, Illumina demonstrates how whole-genome sequencing and improved bioinformatics has solved cases of rare genetic diseaseReadmore

Study implicates 60 genes in congenital heart disease, including some that also contribute to related disorders such as autism

A study of 11,000 CHD cases identified 60 gene mutations, some linked to autism, underscoring the need for genetic screening.Readmore

Potential Therapeutic Targets for Genetic Heart Disorder Discovered

Scientists uncovered LQT1’s molecular cause, opening doors for targeted precision treatments.Readmore

New CRISPR tool enables more seamless gene editing and improved disease modeling

Yale scientists have developed a CRISPR technology that can assess genetic interactions on a host of immunological responses to multiple diseases, including cancer.Readmore

Scientists test accessible, affordable diagnostic tool for heart disease risk via molecular blood screening

The method can measure 25 important markers in the blood simultaneously, such as cholesterol, in less than 15 minutes using radio waves.Readmore

Rice statistician earns $1M CPRIT award to advance AI-powered precision medicine for prostate cancer

Rice University and MD Anderson researchers are using AI and advanced imaging to detect aggressive prostate cancer early and improve treatment, backed by a $1M CPRIT grant.Readmore

Cross-Border University Collaboration Will Expand Research to Advance Precision Medicine

The OriGen Health Research Center will mine a massive biobank of genetic, clinical and epidemiological information to develop customized disease treatments.Readmore

AI helps find promising therapeutic target for rare salivary gland cancer

AI-driven research identifies PRMT5 as a potential target for ACC, with inhibitors showing promise in suppressing tumor growth.Readmore

University of Kentucky names new Veterinary Diagnostic Laboratory director

Dr. Rebecca Wilkes, expert in molecular diagnostics, is the new director of UK’s Veterinary Diagnostic Laboratory.Readmore

Highly accurate blood test diagnoses Alzheimer’s disease, measures extent of dementia

A new blood test detects Alzheimer's and tracks its progression by measuring MTBR-tau243 levels.Readmore

Advanced genetic blueprint could unlock precision medicine

Advances in genetic representation could make a major contribution towards advancing precision medicine.Readmore

Personalized Cancer Vaccine Proves Promising in a Phase 1 Trial at Mount Sinai

A personalized multi-peptide neoantigen cancer vaccine called PGV001, using relatively few antigens (compared to recently published trials by other researchers) was sufficient to induce a strong immune response across multiple cancer types.Readmore

UM School of Medicine Dermatology Researchers Discover New Skin Disease Using Innovative Diagnostic Platform

Utilizing a novel diagnostic test for peripheral blood immunophenotyping, researchers were able to identify the specific sources of inflammation triggering the novel skin disease and reverse symptoms with targeted treatmentsReadmore

Finger sweat as the key to precision medicine in breast cancer

Researchers from the University of Vienna have developed a non-invasive method to analyze metabolic profiles from finger sweat, offering insights into breast cancer progression and treatment effects, enhancing personalized medicine.Readmore

New precision medicine study for patients with biliary tract cancer opens

A UCL and UCLH-sponsored clinical trial seeks to extend survival for biliary tract cancer patients through genetically tailored therapies.Readmore

Detecting disease with only a single molecule

UC Riverside scientists have developed a nanopore-based tool that could help diagnose illnesses much faster and with greater precision than current tests allow, by capturing signals from individual moleculesReadmore

Elevating precision medicine research

BePRECISE guidelines improve precision medicine research reporting by enhancing clarity, standardization, and inclusivity while promoting health equity.Readmore