500 babies now recruited to world-leading genetic study
500 babies now recruited to world-leading genetic study
Over 500 babies…
How genomic screening in newborns found 16 hidden disorders standard tests overlooked
By uncovering life-altering genetic conditions before symptoms appear, genomic screening could redefine newborn care if health systems can…
New method can create reliable growth charts for children with rare genetic disorders
Growth charts for children with rare genetic disorders – giving healthcare professionals and families clearer guidance on how…
Microbial genetic variation shapes neurocognitive behavior in sheep
The researchers used Merino sheep as an animal model, systematically collecting samples of their hindgut and ruminal microbiota,…
Genetic study reveals unique mutations in Chinese patients with hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM), a common genetic heart disorder, is often caused by mutations in sarcomere-related genes. While extensively…
Evolutionary mutation in cGAS enhances naked mole-rat DNA repair
The secret to the naked mole-rats’ extraordinarily long life may lie in subtle changes to just four amino…
Cleveland Clinic team uncovers genetic link to osteosarcoma
Researchers at Cleveland Clinic Children’s have helped identify a previously unknown gene that increases the risk of developing…
Innovative screening tool launched to identify individuals at risk for hereditary cancers
Ochsner Health announces the launch of its Genetic Wellness Assessment, an innovative screening tool to help identify individuals…
Innovative system accurately detects genetic mutations in the brain tumor within 25 minutes
A research team in Japan has developed an innovative system that can accurately detect genetic mutations in the…
Errors in EPG5 gene implicated in rare infant condition and adult neurodegenerative diseases
Errors in a gene known to cause a serious neurodevelopmental condition in infants are also linked to the…
Newborn genomic screening may detect hundreds of additional childhood conditions
Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis…
Largest study of African American brain tissue reveals key Alzheimer gene activity
The prevalence of Alzheimer disease (AD) is approximately two times higher in African Americans (AA) compared to White/European-ancestry…