Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with neurological diseases.
Researchers at Oregon Health & Science University have discovered a gene that is critical to the brain’s ability to form myelin, a protective layer around nerves, potentially leading to new treatments for an extremely uncommon childhood disorder and more common diseases such as multiple sclerosis.
A $1.1 million grant from the parent-caregiver-led Rare Bird Foundation to Weill Cornell Medicine is supporting the launch of a natural history study for a rare neurodevelopmental disorder that causes developmental delays and seizures called MEF2C Haploinsufficiency syndrome (MCHS).
Scientists use a precise form of gene editing called prime editing to correct the most common genetic mutations that cause alternating hemiplegia of childhood, a rare and severe neurological disorder that begins in infancy.
We spoke with Neil Ward from PacBio about England’s plan to introduce whole genome sequencing for every newborn, and how long-read technology is shaping the future of early diagnosis around the world.
A global team mapped over 100,000 structural variants in human genomes by applying Oxford Nanopore long-read sequencing and a novel graph-based analytical approach to samples from 26 populations. The study reveals the extraordinary complexity and diversity of human DNA, providing an open-access atlas that will accelerate discoveries in genetic disease and human evolution.
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