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Genetics

Gene Therapy Gene Editing Rare Diseases Cardiomyopathy Alzheimer's Disease Mutation Analysis Single Cell Sequencing Clonal Hematopoiesis Genetic Testing BRAF Mutations Obesity Treatment Gene Mutations Genomic Risk Factors Prenatal Treatment Mitochondrial Diseases Disease Risk Assessment Gene Expression Lynch Syndrome Chronic Fatigue Syndrome Pharmacogenomics Speech Disorders TERT Gene Expression Breast Cancer Risk Assessment Cancer Risk Inherited Conditions Genetic Mutations DNA Methylation Blood Disorders Cancer Genetics Venom Research

Noncoding U4/U6 RNA Variants Pinpointed as Cause of Retinitis Pigmentosa

The discovery elevates small nuclear RNA genes to clinically relevant targets for retinal disease diagnostics.

Study Finds No Added Breast Cancer Risk From Menopausal Hormone Therapy in BRCA Carriers

Lurie Children’s Launches Genetics and Rare Diseases Division With $11 Million Edwards Gift

Genetic Risk Score Flags Future Breast Cancer Risk After DCIS or LCIS

Mount Sinai Team Publishes AI ‘Penetrance’ Scores to Gauge Disease Risk From Rare Variants

Pharmacogenetic Screening Halves Severe Chemotherapy Reactions in Gastrointestinal Cancer Patients

Largest Genetic Study Links Eight DNA Regions to ME/CFS

Prime Editing Reverses Rare Childhood Brain Disorder by Correcting Multiple Mutations in Mice

AAV-OTOF Gene Therapy Restores Hearing in Teens and Adults

CRISPR Technique Reawakens Dormant Genes to Treat Blood Disorders

Triplet Therapy Doubles Survival in BRAF V600E Metastatic Colorectal Cancer

Proteomic Test Cuts Childhood Rare Disease Diagnosis to Under Three Days

Comprehensive NGS Study Unveils Diverse Mutational Landscape in Lung Squamous Cell Carcinoma

New Genomic Score Enhances Prediction of Multiple Myeloma Progression