Dr. Franz Schaefer is Professor of Pediatrics and Chief of the Pediatric Nephrology Division at Heidelberg University Hospital. Prof. Schaefer received his M.D. in 1986 at Würzburg University Medical School. He performed research scholarships at the Institute of Child Health, London, the University of Virginia and Stanford University.
His research interests include the genetic basis of hereditary kidney diseases, the physiopathology and prevention of kidney disease progression, the cardiovascular, metabolic and endocrine consequences of kidney disease in children, and the mangement of end-stage kidney disease by renal replacement therapy.
He conducted numerous collaborative clinical trials and established several international research consortia including the European Study Group for Progressive Chronic Kidney Disease in Children (ESCAPE), and the International Pediatric Dialysis Network (IPDN). Furthermore, Prof. Schaefer has coordinated the European registry for pediatric dialysis and transplantation for six years and is the current chair of the Global IPNA Registry for pediatric renal replacement therapy.
Prof. Schaefer has a special interest in rare disease research. He established the PodoNet Project for Research in Steroid Resistant Nephrotic Syndrome and coordinates the EURenOmics Consortium for High-Throughput Research in Rare Kidney Diseases. He is a member the Scientific Advisory Board of the Global aHUS Registry. Recently he founded the European Rare Kidney Disease Reference Network (ERKNet), a consortium of 38 European Reference Centers dedicated to improve the knowledge and clinical management of rare kidney disorders from diagnosis to innovative therapies.
Dr. Schaefer has published more than 500 scientific articles and book chapters, is co-editor of the standard textbooks 'Pediatric Kidney Disease' and 'Pediatric Dialysis' and is Associate Editor of two leading nephrology journals.
I am a Lecturer in the Department of Pediatrics and Communicable Diseases, Division of Pediatric Nephrology at the University of Michigan. I am also a member of the systems biology core and data analysis coordinating center of the Nephrotic Syndrome Study Network (NEPTUNE) cohort. My research approach combines innovative genomic technologies, combined with statistical genetics, computational genetics, and bioinformatics methods to elucidate the role of genomic variation in renal disease. I completed my master's degree in genetic epidemiology at the University of Pennsylvania, studying the role of common genetic variants and copy number variants in the pathogenesis of congenital anomalies of the kidney. My current research focuses on utilizing next-generation sequencing data and deep clinical phenotyping to elucidate the role of genomic variation in both transcriptomic changes in kidney biopsy tissue and clinical outcomes in NEPTUNE subjects. I am also working on using exome chip, whole genome and targeted exome sequencing data from subjects with nephrotic syndrome to define functional genomic elements across the genome in order to develop a generalizable genomic variant mapping test that can be used across diseases.
As a practicing pediatric nephrologist, I see many children in consultation with both sporadic and syndromic renal disease with a genetic component. I am currently creating a UMHS based pediatric nephrology biorepository and clinical phenotype database, working closely with our clinical research coordinators and basic science collaborators to identify and enroll those children with likely genetic basis of their disease. I utilize my formal training in genetic epidemiology and expertise in the genomics of renal disease to determine whether genetic testing is warranted, the choice of which method to utilize, interpretation of variants found, and communication of the results to families.