The decoding and functional annotation of the human genome and the advent of high throughput sequencing technologies have enabled remarkable progress in understanding the genetic contribution to human disease. Research over the last decades has successfully identified genetic causes of many monogenic diseases. Today, methods such as genome-wide association studies (GWAS) also provide access to complex polygenetic human hereditary diseases and traits. Despite the rapid discovery of new disease-associated genes, two main challenges remain:
- efficient identification of the function of the mapped genes and
- effective translation of gene sequences into mechanistic insights and therapeutic strategies to cure or ameliorate the manifestations of deleterious gene mutations.
The kidney is a common target of hereditary diseases. The investigations of genetic kidney diseases have provided fundamental insights into renal pathophysiology; yet the functional analysis of disease genes has fallen behind the unprecedented pace of gene discovery in recent years. A major advantage of hereditary kidney disease research is the well-characterized physiology of the organ, which provides a solid foundation for the investigation of molecular disease mechanisms. Thus, the kidney is uniquely suited to gain a comprehensive understanding of hereditary disease.
The Work Program
KIDGEM pursues an interdisciplinary approach to investigate genes associated with hereditary kidney disease and to translate gene sequences into an understanding of the underlying molecular renal physiology. Capitalizing on highly specialized Freiburg expertise, KIDGEM will combine complex mass spectrometry with animal models (Drosophila, C. elegans, Xenopus, zebrafish and mouse) and high-resolution microscopy to define the composition of central kidney structures (e.g. the slit diaphragm of podocytes) and to identify novel candidates for hereditary kidney disease. As collaborative research center, KIDGEM wants to establish a platform to efficiently translate gene sequences into disease mechanisms. This approach will provide the framework to improve diagnosis, treatment and prevention of hereditary kidney diseases.