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…
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…
Family fights to keep baby with rare genetic disorder alive
Pohamara, 37, told the Herald “the slightest infection could be fatal”. Katana Morunga was diagnosed with the genetic…
Refined DNA sequencing tool reveals hidden mutations behind aging and cancer
Researchers have refined a powerful DNA sequencing tool that can uncover hidden mutations that occur naturally in our…
Breakthrough in RNA-targeted drug discovery offers hope against viral diseases
In a quest to develop new antiviral drugs for COVID-19 and other diseases, a collaboration led by scientists…
Genetic risk score can help identify women at higher risk of invasive breast cancer
Studying a person’s genetic makeup can predict if they will go on to develop invasive breast cancer after…
Stem cells and organoids offer a new understanding of APOL1 kidney disease
Chronic kidney disease (CKD) affects more than 700 million people worldwide and is caused by genetic and environmental…