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Genetics

Genetics

A hidden inheritance could explain disease risks beyond DNA: Q&A

May 11, 2026 Medical Xpress.com

When we think about genetic inheritance, we usually leap to DNA, the four-letter code containing the instructions for building a living organism. Scientists know that DNA encodes everything from hair and eye color to a […]

Genetics

Children with rare debilitating brain diseases suffer from mutations in a little-known protein complex

May 8, 2026 Medical Xpress.com

Thousands of times per year, a family’s moment of joy turns to unexpected grief. A seemingly healthy infant stops smiling or making eye contact. Their limbs grow weak. The tiny child suffers seizures and breathing […]

Genetics

How a tiny cell structure may shape brain development and drive disease

May 8, 2026 Medical Xpress.com

A largely overlooked structure inside our cells may play a crucial role in how the brain forms, offering new insight into developmental disorders and potential therapies.This article was originally published on MedicalXpress.com

Genetics

Gene duplication tied to juvenile glaucoma in 20 patients across 10 families

May 7, 2026 Medical Xpress.com

A major international study led by Flinders University has identified a genetic contributor to juvenile glaucoma. Published today in the journal JAMA Ophthalmology, the study marks another important step toward treating multiple forms of glaucoma […]

Genetics

Hidden sex differences may explain why lupus strikes women far more often

May 7, 2026 Medical Xpress.com

Ahead of World Lupus Day on May 10, new research from the Garvan Institute of Medical Research and UNSW Sydney helps explain why women are significantly more likely to be diagnosed with an autoimmune disease—a […]

Genetics

Rapid genomic testing helps 1,100 families worldwide target treatment for rare childhood disease

May 6, 2026 Medical Xpress.com

An international partnership designed to improve equality in access to genomic medicine for a rare disease has now provided potentially life-saving genetic testing for over 1,100 families across the world.This article was originally published on […]

Genetics

Same genetic mutation, different clinical outcomes: Study shows why neurodevelopmental disorders vary so widely

May 5, 2026 Medical Xpress.com

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay, while others may only exhibit milder psychiatric […]

Genetics

Unmasking autism spectrum disorder through its gene-based roots

May 5, 2026 Medical Xpress.com

Two studies led by the Chahrour Lab at UT Southwestern Medical Center shed new light on genes associated with autism spectrum disorder (ASD), the neurodevelopmental disease characterized by impaired communication, abnormal social interactions, and restricted, […]

Genetics

Digital archive opens funding ‘black box’ behind genomics breakthroughs

May 4, 2026 Medical Xpress.com

A new digital archive developed by Northwestern scientists reveals how state-supported research funding agencies cooperate with the scientific community to decide to support scientific research projects and contribute to scientific innovation, as detailed in a […]

Genetics

How sugar fuels sight: Glucose metabolism linked to epigenetic and gene expression changes in the retina

May 4, 2026 Medical Xpress.com

National Eye Institute (NEI) scientists have found that the way the retina metabolizes glucose directly controls which genes get switched on and off in light-sensing photoreceptors. The findings suggest that metabolic disruptions seen in aging […]

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