Associate Professor of Human Genetics, Emeritus, University of Copenhagen, Denmark

Søren Nørby graduated as an MD. He soon went into genetics where he earned a PhD degree through his discovery of the first metabolic defect causing a morphological mutant (the wing mutant rudimentary) in Drosophila melanogaster and thereby also the first chromosomal location of the so-called CAD gene in pyrimidine biosynthesis. Dr. Nørby later went into medical genetics where, among other things, he contributed to the mapping of Autosomal Dominant Polycystic Kidney Disease, type 2 (the PKD2 locus). Furthermore, he has introduced into Denmark the analysis of human mitochondrial DNA (mtDNA) and identified the spectrum of mtDNA mutations causing Leber hereditary optic neuropathy (LHON), and various other mitochondrial diseases, in the Danish population, as well as contributed to the elucidation of the ethnic origin of the inuit population in Greenland through characterization of mitochondrial haplotypes.


Dr. Nørby is an honorary professor at Nanjing Railway Medical College (1988, now South-East University) and at Beijing Genomics Institute (2002, now BGI), and adjunct professor at BGI College Shenzhen (2014).