Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development. “This gene mutation disrupts transcription, the process in which Continue Reading

Progress in understanding Alzheimer’s disease genetics, hope remains for drugs in testing

What is happening with Alzheimer’s disease research and treatment? We heard from Maria Carrillo, chief science officer of the nationwide Alzheimer’s Association, during a recent visit to San Diego. Here are some questions and answers from the interview, edited for space and clarity. Q: There have been several failed clinical Continue Reading