A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome.
New AI model called EVE, developed by scientists at Harvard Medical School and Oxford University, outperforms other AI methods in determining whether a gene variant is benign or disease-causing.
When applied to more than 36 million variants across 3,219 disease-associated proteins and genes, EVE indicated more than 256,000 human gene variants of unknown significance that should be reclassified as benign or pathogenic.
A new research study at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James) turns cancer scientists into molecular detectives, searching for clues for why certain cancers are able to spread and evolve by studying tissues collected within hours of death.
Albert Einstein College of Medicine has received a five-year, $5 million grant from the National Institutes of Health (NIH) to support the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC), which has been at the forefront of research on normal and abnormal brain development for more than 50 years.
In the earliest hours of your embryonic status, cells were developing and multiplying, critical processes were starting up, networks were connecting and genetic codes — for better or worse — were directing the whole project.
That early development is the focus of University of Delaware biologist Shuo Wei’s research. Now his work has won more than $1.8 million in support from the National Institutes of Health.