Hans Waterham conducts functional and translational research into inherited metabolic diseases in the broadest sense. By focusing his research on the impact of genetic defects on metabolism and function at the cellular and/or organism level, Waterham hopes to gain a better understanding of the pathogenesis and also use this as a basis for developing new therapeutic strategies. He draws on various techniques from the fields of genetics, molecular biology, cell biology and biochemistry for this research, as well as using a variety of cell systems and model organisms.

Since late 1997 Waterham has been associated with the AMC-UvA’s Laboratory Genetic Metabolic Diseases, where he has been research leader since early 1999. He has also managed the laboratory’s accredited DNA diagnostics unit since 1999, and been principal investigator at AMC-UvA since 2006.

Waterham has received several Dutch and European research grants, including a Royal Netherlands Academy of Arts and Sciences (KNAW) fellowship, and has frequently published in scientific journals, including Nature Genetics, The American Journal of Human Genetics and The New England Journal of Medicine. Waterham has been a clinical genetic laboratory specialist since 2003 and managing committee treasurer of the VKGL, the professional association for clinical genetic laboratory diagnostics since 2008.