Richard van Wijk

Associate Professor

Strategic program(s):

Biography

Richard van Wijk did his PhD in 2004 in UMC Utrecht on molecular mechanisms of disease in hereditary red blood cell enzymopathies. Currently he holds a position of Associate Professor at the Department Central Diagnostic Laboratory of the UMC Utrecht. He combines diagnostics, consultancy, and (translational) research activities on rare hereditary disorders of the red blood cell, affecting its production, function, or survival. Under his supervision the Central Diagnostic Laboratory has established itself as a National and International Center of Expertise for diagnosis and research on rare red blood cell disorders. Novel advanced and state-of-the art laboratory methods and the concept of ‘personalized diagnostics’ are applied to diagnosing and investigating patients with such disorders. Because of their rarity, the pathophysiology of many of these disorders is poorly understood. The key element of his research therefore is to gain a better understanding of pathophysiology and genotype-to-phenotype correlations, and the identification of novel (modifier) genes.

Recent publications

Biallelic hexokinase 1 (HK1) variants causative of non-spherocytic haemolytic anaemia Elli-Maija Ukonmaanaho, Silvia Dell'Anna, Anna Hakonen, Ulla Wartiovaara-Kautto, Sakari Kakko, Minke A E Rab, Brigitte van Oirschot, Minna Kraatari-Tiri, Richard van Wijk, Elisa Rahikkala
British Journal of Haematology, 2024, vol. 204, p.2040-2048
DAHEAN Andreas Glenthøj, Andreas Ørslev Rasmussen, Selma Kofoed Bendtsen, Henrik Hasle, Marianne Hoffmann, Klaus Rieneck, Morten Hanefeld Dziegiel, Lene Dissing Sjö, Henrik Frederiksen, Dennis Lund Hansen, Daniel El Fassi, Mathias Rathe, Peter Diedrich Matthias Jensen, Anne Winther-Larsen, Christian Nielsen, Marianne Olsen, Nina Toft, Mads Okkels Birk Lorenzen, Lise Heilmann Jensen, Sif Gudbrandsdottir, Jens Helby, Maria Rossing, Richard van Wijk, Jesper Petersen
Orphanet Journal of Rare Diseases, 2024, vol. 19
A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease Myrthe J van Dijk, Marissa J M Traets, Brigitte A van Oirschot, Titine J J Ruiter, Jonathan R A de Wilde, Jennifer Bos, Wouter W van Solinge, Margaret J Koziel, Judith J M Jans, Revati Wani, Eduard J van Beers, Richard van Wijk, Minke A E Rab
EJHaem, 2024, vol. 5, p.21-32
Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease Myrthe J van Dijk, Titine J J Ruiter, Sigrid van der Veen, Minke A E Rab, Brigitte A van Oirschot, Jennifer Bos, Cleo Derichs, Anita W Rijneveld, Marjon H Cnossen, Erfan Nur, Bart J Biemond, Marije Bartels, Roger E G Schutgens, Wouter W van Solinge, Judith J M Jans, Eduard J van Beers, Richard van Wijk
Hemasphere, 2024, vol. 8
Glucose phosphate isomerase deficiency demasked by whole-genome sequencing Sissel Holme, Richard van Wijk, Andreas Ørslev Rasmussen, Jesper Petersen, Andreas Glenthøj
Journal of Medical Case Reports, 2024, vol. 18
Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias Myrthe J van Dijk, Jonathan R A de Wilde, Marije Bartels, Kevin H M Kuo, Andreas Glenthøj, Minke A E Rab, Eduard J van Beers, Richard van Wijk
Blood Reviews, 2023, vol. 61

External positions

Scientific Advisory Board - Advies diagnostiek zeldzame anemie - Rare Anemias International (RAIN)

Member of VHL - Regular meetings (1/4 months) - Dutch Society for Hematological Laboratory Investigation

Member of the Scientific Advisory Board on PKD of the RADEEP - Occasional meetings - Rare Aneamies Disorders European Epidemiological Platform

Consultancy en scientific advisory boards - Research nieuwe therapien zeldzame rode bloedcelstoornissen - Agios Pharmaceuticals

Consultancy en scientific advisory boards - Ontwikkelen nieuwe (diagnostische) laboratoriumtechnieken - RR Mechatronics

Member of the working group 'Non-oncological Hematology' of th NVvH - occasional meetings  - Dutch Hematology Association (NVvH)

Member - Occasional meetings - European Hematology Association (EHA)

Member - Occasional meetings - Dutch Hematology Association (NVvH)

Member of EHA scientific Working Group on Red Cells and Iron - Occasional meetings - European Hematology Association (EHA)

abstract reviewer - reviewing of abstracts - European Hematology Association (EHA)

Reviewer for peer reviewed Journals - Reviewing papers - Papers for various Journals