Active Projects

Functional Studies

While diagnostic testing often results in a definitive answer for our patients, this testing can sometimes uncover genetic variation whose…

Glycosylation Disorders

GGC’s Research Division actively studies a group of inherited diseases called the Congenital Disorders of Glycosylation or CDG.  These rare…

Inherited Retinal Diseases

Inherited retinal dystrophy (IRD) describes a broad spectrum of genetic disease that affects the light sensing tissue at the back…

Lysosomal Storage Disorders

Lysosomes are the compartment within a cell that are responsible for the breakdown of macromolecules into precursors that can be…