Genetic disorders with onset before birth are a leading cause of death in infants and children. Thanks to advances in imaging and genetic diagnostic technologies, clinicians can now detect many of ...

Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

You’ve likely heard people mention that they have inherited certain health conditions from their family. These are known as genetic disorders—conditions passed down from parents through DNA. In this ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

Marley Mansour, 11, is tickled by mom Kayla Mansour on her bed at their home in Rowlett on Tuesday, April 29, 2025. Marley is set to make medical history as the first person in the world to receive ...