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Haplotype-resolved DNA methylation at the APOE locus identifies allele-specific epigenetic signatures relevant to Alzheimer's disease risk - npj Dementia
14+ hour, 34+ min ago (1721+ words) Our study advances the understanding of the epigenetic mechanisms linking APOE variation to AD risk alleles by resolving allele-specific methylation patterns in an ancestrally diverse dataset; however, future functional studies will be important for determining whether these methylation differences affect…...
This New DNA Test Solves Rare Disease Mysteries That Standard Genetics Misses
19+ hour, 14+ min ago (382+ words) A new long-read DNA test improves rare disease diagnosis, replaces multiple existing tests, and could become the preferred global standard for genetic diagnostics. Researchers at Radboudumc and Maastricht UMC+ are collaborating to improve the diagnosis of genetic disorders. In a…...
RLS Research: New Genetic Links in Zebrafish Models
1+ day, 5+ hour ago (433+ words) SFL Educational News Service The Core Concept: Restless Legs Syndrome (RLS) is a prevalent sleep-related disorder characterized by unpleasant sensations and an involuntary, irresistible urge to move the limbs, typically during periods of rest or inactivity. Key Distinction/Mechanism: Unlike…...
Vall d'Hebron participates in a natural history study of CTNNB1 syndrome
1+ day, 11+ hour ago (366+ words) We are a leading healthcare campus encompassing all fields of health: from healthcare and research to teaching and management. Professionalism, commitment and research by professionals on the Campus are the key elements in offering patients excellent care. We are committed…...
Cracking epilepsy's code: How genetics is reshaping treatment for children
22+ hour, 36+ min ago (508+ words) For years, epilepsy care relied on trial and error, but genome sequencing and precision medicine are helping doctors identify the mechanisms behind severe childhood epilepsy and, in some cases, target the disease at its source For many years, epilepsy treatment…...
Restless Legs Syndrome Risk Gene Linked to Cerebellar Defects
1+ day, 16+ hour ago (588+ words) Summary: A genetic marker tied to human Restless Legs Syndrome (RLS) is essential for healthy cerebellar development. The team discovered that mutating the MEIS1 gene in zebrafish larvae destroys the animal's rhythmic "burst and glide" locomotion, triggering hyperactive, extended movement cycles....
Nine new genomic regions that control a critical heart biomarker uncovered by largest genetic study
1+ day, 18+ hour ago (418+ words) Pankaj Arora, M. D. , and Naman Shetty, M. D. Researchers from the'University of Alabama at Birmingham'Marnix E. Heersink School of Medicine'have published a study in'Circulation: Genomic and Precision Medicine'that maps the genetic blueprint of NT-pro BNP, a hormone produced by the heart that plays a…...
A Novel Homozygous MYH2 Variant Causing Early-Onset External Ophthalmoplegia and Proximal Myopathy in a Consanguineous Family
2+ day, 22+ hour ago (198+ words) Mutations in the MYH2 gene, which encodes skeletal muscle myosin heavy chain IIa, are a rare cause of congenital myopathies characterized by proximal muscle weakness and ophthalmoplegia. MYH2-related disease may be inherited in either an autosomal dominant or autosomal recessive manner....
USC study finds key Alzheimer's risk factor may behave differently in Hispanic older adults
2+ day, 13+ hour ago (575+ words) Explore Brain Health and Alzheimer's Research, Education and Care The Keck School of Medicine is at the forefront of studying and treating Alzheimer's Disease and related brain disorders. Learn more about our brain health work A large USC-led study suggests…...
A major Alzheimer's risk factor may work differently in Hispanic adults
2+ day, 13+ hour ago (487+ words) In a new analysis, researchers at the USC Mark and Mary Stevens Neuroimaging and Informatics Institute (Stevens INI) detected significant divergences in the expression of Alzheimer's disease risk factors between populations. Amyloid plaques are a key biological indicator of Alzheimer's…...