Genetics

Clinical evidence, research, and medical intelligence in Genetics.

Polygenic risk outperforms monogenic testing in Tier-1 disease screening

In a real-world biobank, integrated polygenic and monogenic risk assessment identified far more high-risk people than family-history-based gene testing.

By Dr. A. Nikhil Krishnan, MBBS · Oct 26, 2026 · 5 min read

Genetics·Nat Rev Neuro

Equitable population epigenomics demands broader ancestry representation

Nature Reviews Genetics commentary argues epigenomic studies must move beyond European ancestry to improve discovery, prediction, and translation…

Oct 26, 2026

Genetics·NLM Alerts

Noonan Syndrome Lymphatic Abnormalities Extend Beyond Visible Disease

Imaging found central lymphatic abnormalities in Noonan syndrome even without lymphedema, suggesting hidden disease and later peripheral dysfunction.

Oct 26, 2026

Genetics·Modern HC

Gene Therapy Translation Faces Manufacturing and Regulatory Barriers

A clinical review says gene therapy efficacy is improving, but manufacturing, consistency, and regulation now limit broader patient…

Oct 26, 2026

Genetics·medRxiv

Polygenic Scores Improve When Dominance Effects Are Modeled

A medRxiv preprint finds that adding dominance effects to polygenic scores can lower prediction error for some complex…

Oct 26, 2026

Genetics·Cancer Cell

AAV Genome Targeting Corrects Fabry Disease in Gla KO Mice

Preclinical AAV genome targeting of GLA cDNA produced long-term correction of Fabry disease in newborn and juvenile Gla…

Oct 25, 2026

Genetics·BBC Dental

Fragile X syndrome care hub opens at Leicester Royal Infirmary

Leicester Royal Infirmary launches a UK-first Fragile X care hub aimed at holistic assessments, family support and research.

Oct 25, 2026

Genetics·bioRxiv

Human Plasma Protein Levels Show Widespread Stabilizing Selection

Analysis of 2,923 plasma proteins in up to 54,000 UK Biobank participants found broad evidence that human protein…

Oct 25, 2026

Genetics·NLM Alerts

Arginase 1 Deficiency Therapy: Pegzilarginase Dosing and Monitoring

GeneReviews details pegzilarginase for arginase 1 deficiency, including weekly IV dosing, optional SC transition, and amino acid monitoring.

Oct 24, 2026

Genetics·Nature

Maternal Age and Trisomy 21 Origin in Libyan Down Syndrome Families

Libyan family data suggest maternal-origin trisomy 21 remains predominant across age groups, but D21S11 tracing was limited and…

Oct 24, 2026

Genetics

Clinical evidence, research, and medical intelligence in Genetics.

In Brief The 5-minute rounds

New hypertension guideline lowers the treatment threshold to 130/80 mm Hg.
Phase 3 GLP-1 trial reports a 20% cut in major adverse cardiac events.
FDA clears a next-generation CAR-T therapy for relapsed lymphoma.
Meta-analysis links early mobilisation to shorter ICU length of stay.
Rapid guidance broadens empiric antibiotics for suspected sepsis.