High-tech imaging reveals details about rare eye disorder

Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing effective treatments for this and other rare diseases. NEI is part of the National Institutes of Health.

New Collection of Rett Syndrome Stem Cells Available from Coriell Institute for Medical Research

The Coriell Institute for Medical Research has added a new collection of stem cells to its biobank offerings. The new collection is a result of a collaboration between Coriell and the Rett Syndrome Research Trust (RSRT) and consists of 10 lines of human induced pluripotent stem cells created from blood donated by individuals with Rett syndrome.

U of U Health Launches Rapid DNA Testing of Critically-Ill Newborns for Faster Diagnosis, Better Treatment

University of Utah Health today announced the launch of a project with a goal of quickly and accurately detecting genetic disorders among newborns in its neonatal intensive care unit (NICU). Clinicians believe that bringing precision medicine to the NICU will transform neonatal care, leading to better diagnosis and treatment of critically ill infants with genetic-related diseases while lowering medical costs and easing the emotional and financial burden on parents and families.