· Nenad Blau ·
Nenad Blau is a Senior Consultant in Biochemical Genetics at the University Children’s Hospital of Zürich, Switzerland and served in the same function at the Children’s Hospital in Heidelberg, Germany from 2011-2019. He was the Head of the Laboratory for Tetrahydrobiopterin and Neurotransmitter Diseases at the University Children’s Hospital in Zürich, Switzerland, where his research group discovered several inborn errors of metabolism, including GTPCH, PCD and SR deficiencies. He established and curates the phenylalanine hydroxylase (PAH) locus-specific database, BIOPKU database of phenylketonuria (PKU) genotypes, database of tetrahydrobiopterin (BH4) deficiencies and the PNDdb database of mutations causing pediatric neurotransmitter disorders (www.biopku.org). With colleagues from Vancouver (BC, Canada), he developed the IEMbase, an online knowledgebase and diagnostic tool for inborn errors of metabolism (www.iembase.org). His current research focuses on epidemiology, population genetics, genotype-phenotype correlation, and genotypic phenotype prediction in PKU and other inherited metabolic diseases.
Prof. Blau is an honorary member of the Italian Society for Pediatrics. In 2001, he received the Horst Bickel-Award, in 2005 the Gowland Hopkins Award and in 2011 the Asbjørn Følling Award for his research in the field of tetrahydrobiopterin and PKU.Prof. Blau is author of more than 500 research publications and 12 books, including the standard textbooks ‘Physician’s Guide to the Diagnosis, Treatment and Follow-up of Inherited Metabolic Diseases’ and ‘Laboratory Guide to the Methods in Biochemical Genetics’