Rare Pediatric Diseases

Translational research in rare genetic pediatric diseases bridges the gap between laboratory results and direct medical application. The goal is to shorten the often lengthy diagnostic pathway odysseys and develop personalized therapies for the approximately 70-80% of rare diseases that are genetically determined. Central research approaches networks focus on deciphering disease mechanisms and developing new treatment strategies. A milestone was recently reached with therapies that use "base editing" to target and correct gene defects. In some cases, customized treatments have been developed within a few months. The future is bring all research efforts back from just “treating” children over many years by expensive drugs, but, focussing on “curing” the disease by early repair prenatally or early postnatally on DNA/RNA-level. Different genetic pediatric diseases, monogenetic or polygenetic, have different genetic changes on DNA/RNA, making it necessary trying to use a different curing technique individually.

Current projects also explore the introduction of genomic newborn screening to detect hundreds of diseases immediately after birth.

That`s much too late.

From our viewpoint, all unborn babies should be screened prenatally by whole genome sequencing and treated as early as possible, because all these mutational defects are present often in early pregnancy, so, be aware that the unborn baby becomes ill in pregnancy and nobody treats the baby, until treatment options started many months or years later after delivery.

And, that`s too late.