genetic screening

Genetic Insights into Early Heart Failure Risk in Hypoplastic Left Heart Syndrome: Findings from the NC-DEFINE Study

By MedXY 09/12/2026

A prospective study reveals that ultra-rare cardiomyopathy gene variants significantly increase risk for early heart failure in infants with hypoplastic left heart syndrome, highlighting potential for genetic risk stratification and precision medicine.

Cardiology news Pediatrics

VRONI Study: Advancing Pediatric Genetic Screening for Familial Hypercholesterolaemia to Improve Early Cardiovascular Health

By MedXY 09/04/2026

The VRONI study demonstrates the feasibility and effectiveness of combined biochemical and genetic screening for familial hypercholesterolaemia (FH) in children, revealing a higher FH prevalence than previously reported and supporting national pediatric screening initiatives.

Diabetes & Endocrinology news Pediatrics

Early Identification and Monitoring of At-Risk Children Significantly Improves Outcomes in Type 1 Diabetes

By MedXY 08/08/2026

Population-based genetic screening and prospective follow-up of at-risk children reduce the severity of type 1 diabetes at diagnosis and enhance one-year treatment outcomes, including lower HbA1c and insulin requirements.

Hematology-Oncology news

Unraveling Genetic Drivers in Triple Negative Thrombocytosis: Implications of MPL and SH2B3/LNK Mutations

By MedXY 07/12/2026

Comprehensive genetic screening of triple negative thrombocytosis reveals germline MPL compound mutations and truncating SH2B3/LNK alterations, offering new insights into diagnosis and personalized management.

news Oncology Public Health

Impact of Population-Based Pathogenic Variant Testing on Risk-Based Breast Screening Recommendations: A Secondary Analysis of the WISDOM Study

By MedXY 06/09/2026

This WISDOM Study analysis found that most women with breast cancer pathogenic variants would not have been flagged for high-risk screening by clinical or polygenic risk models alone, supporting population-based genetic testing.

news Oncology Ophthalmology

MBD4 Germline Variants Mark a Strong Predisposition to Uveal Melanoma, Supporting Broad Genetic Screening

By MedXY 05/04/2026

A large French case series found pathogenic or likely pathogenic germline MBD4 variants in 23 of 896 patients with uveal melanoma, corresponding to a 31-fold relative risk versus the general population.