Steven Pittler, Ph.D., at the University of Alabama at Birmingham has sought to find modifier genes for the hereditary eye disorder retinitis pigmentosa type 59. After onset in one’s late teens, RP59 ...

Jeffrey A. Towbin, MD, of Le Bonheur Children's Hospital and the University of Tennessee Health Science Center was awarded a Research Project Grant (R01) from the National Institutes of Health (NIH) ...

Although rare diseases are individually rare, around the globe nearly 400 million people suffer from approximately 7,000 different rare diseases. Approximately 80% of all rare diseases are genetic in ...

Neurodevelopmental disorders, including schizophrenia and autism, likely result from complex interactions that modify the effects of individual genes. In a new study, researchers evaluated the effects ...

Modifier genes add complexity to precision medicine. A modifier gene is one that has genetic variants such as single nucleotide changes that differ from the most common sequence in the population.