Jeff and Deena Leider are pushing federal officials to expand access to a treatment for their two sons' rare disease.

The study, titled “Association of IgG4-Related Disease with Human Inborn Errors of Immunity,” involved 18 patients diagnosed with IgG4-RD, all of whom underwent Whole Exome Sequencing (WES) to examine ...

Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated with a rare inherited growth disorder in two prehistoric individuals who ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...