Genetic Mutation
|3 min read
Beyond Morphology: AI’s Next Step in Computational Pathology
A multitask AI model uses routine H&E whole-slide images to generate seven diagnostic, molecular, and prognostic outputs across more than 30 solid tumor types
|2 min read
Some p53 Mutations Could Help Fight Cancer
New findings show that specific p53 variants, such as R273H, may predict stronger responses to immune checkpoint inhibitors
|3 min read
Customized Gene-Editing Technology Shows Potential to Treat Lethal Pediatric Disease
In preclinical models, the CRISPR-Cas9 gene therapy precisely repaired the genetic error that causes a rare vascular disease
|4 min read
Genetic Study Suggests Ways to Catch Blood Cancer Earlier
New understanding of how mutations interact could pave way for early detection, prevention strategies
|2 min read
South African Study Identifies 2 New Breast Cancer Genes in Black Women
Genetic factors contribute to some 30 percent of breast cancer cases in South Africa, necessitating investment in genomic research in African contexts
|2 min read
Belay Diagnostics Partners with GenomOncology to Support High-Performance Liquid Biopsy Test for Central Nervous System Cancer Detection
The customized solution enables the team to make informed variant interpretations and treatment recommendations
|5 min read
Gene Therapies for Retinal Diseases Head to Clinical Trials
Inherited retinal diseases cause vision loss and blindness. New gene therapy trials have improved sight for some
|3 min read
New Approaches to Cancer Variant Classification: Challenges and Opportunities
Large-scale functional studies are emerging that offer promise to improve variant interpretation
|1 min read
New ‘Ultra-Rapid’ ddPCR Test Could Revolutionize Brain Cancer Surgery
A new, ultra-fast genetic test developed by NYU Langone Health may enable surgeons to identify cancer cells in real-time during brain surgery, improving tumor removal accuracy
|2 min read
Study Reveals 2 New Genes Associated with Variants Linked to Epilepsy, Offering New Hope for Personalized Therapies
By linking epilepsy to specific genetic mutations, the research offers a new framework for understanding the disorder and developing therapies that address its root causes
|3 min read
ASH 2024: Study Shows Genetic Mutations Accumulate in Smokers with Myelodysplastic Syndromes and Worsen Outcomes
Study is the first to identify discrete genetic mutations associated with smoking, to establish a dose-response relationship between smoking and genetic mutations and to show that continuing to smoke leads to more mutations and worse MDS
|3 min read
Study Finds Novel Role of BRCA1 in Tumor Suppression
The study helps explain why BRCA1 is such an important tumor suppressor in breast and ovarian cancers
Updated |2 min read
