A new method for building growth charts for children with rare diseases is being integrated into DECIPHER to help clinicians and families understand ...

In May, a historic moment in science and medicine was captured in a single photo that circulated across news outlets ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how ...

Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

A Sarasota toddler born with a rare immune disorder can only receive a life-saving bone marrow transplant at the National ...

A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these conditions earlier and ...

Klairissa and Mike's baby boy was born after a tough pregnancy and continued to experience struggles including low energy and ...

An international team led by Monash University researchers has uncovered the genetic code governing the way genetic mutations affect mRNA and result in disease.

A single, untargeted proteomics test for rare genetic diseases has been developed. A research team from the University of Melbourne (Australia) and Murdoch Children’s Research Institute (Victoria, ...

Groundbreaking research shows that as men age, harmful genetic mutations in sperm become more common—not just from random ...