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drs. T.U. (Richard) van Talboom

drs. T.U. (Richard) van Talboom

Associate Professor
  • Central Diagnostic Laboratory

Research Programs

Biography

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.

Side Activities

  • Member of the European Hematology Organisation (EHA; member 6775).
  • Member of EHA Scientific Working Group on Red Cells and Iron (member SWG-202108-00993).
  • Member of the Dutch Hematology Association (NVvH).
  • Member of the Dutch Society for Hematological Laboratory Investigation (VHL).
  • Member of the working group ‘Non-oncological Hematology’of the Dutch

Hematology Association (NVvH).

 

  • Member of the Scientific Advisory Board on PKD of the Rare Anaemias Disorders European Epidemiological Platform (RADEEP)

 

  • Consultant for Agios Pharmaceuticals Inc. (Cambridge, MA, USA)
  • Consultant and Scientific advisory board for Global Blood Therapeutics

 

  • Reviewer for peer reviewed journals, i.e. Blood, British Journal of Haematology, Blood Advances, Haematologica, International Journal of Molecular Sciences, European Journal of Haematology, International Journal of Laboratory Haematology, Journal of Pediatric Hematology and Oncology
  • Abstract reviewer for the annual Congress of the EHA (2011 – present).
  • Reviewer for Genetics Home Reference at the U.S. National Library of Medicine 
  • Reviewer for National Information Centre for Metabolic Diseases Climb (Children Living with Inherited Metabolic Diseases), UK
  • Reviewer for Orphanet Professional Encyclopedia

 

  • Associate editor of Red Blood Cell Physiology (specialty section of Frontiers In Physiology
  • Topic editor of Frontiers in Physiology Research Topic - Pathophysiology of Rare Hemolytic Anemias
  • Topic editor of Frontiers in Physiology Research Topic - Novel Diagnostic Devices for Red Blood Cell Related Diseases / New Methods for Red Blood Cell Research

Research Output (116)

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

van Dooijeweert Birgit, Broeks Melissa H, van Beers Eduard J, Verhoeven-Duif Nanda M, van Solinge Wouter W, Nieuwenhuis Edward E S, Jans Judith J, van Wijk Richard, Bartels Marije 17 May 2021, In: British Journal of Haematology. 193 , p. 1185-1193 9 p.

Effects of Genotypes and Treatment on Oxygenscan Parameters in Sickle Cell Disease

Boisson Camille, Rab Minke A E, Nader Elie, Renoux Céline, Kanne Celeste, Bos Jennifer, van Oirschot Brigitte A, Joly Philippe, Fort Romain, Gauthier Alexandra, Stauffer Emeric, Poutrel Solene, Kebaili Kamila, Cannas Giovanna, Garnier Nathalie, Renard Cécile, Hequet Olivier, Hot Arnaud, Bertrand Yves, van Wijk Richard, Sheehan Vivien A, van Beers Eduard J, Connes Philippe 5 Apr 2021, In: Cells. 10 , p. 1-11

Ektacytometry Analysis of Post-splenectomy Red Blood Cell Properties Identifies Cell Membrane Stability Test as a Novel Biomarker of Membrane Health in Hereditary Spherocytosis

Berrevoets M C, Bos J, Huisjes R, Merkx T H, van Oirschot B A, van Solinge W W, Verweij J W, Lindeboom M Y A, van Beers E J, Bartels M, van Wijk R, Rab M A E 25 Mar 2021, In: Frontiers in Physiology. 12 , p. 1-10

Decreased activity and stability of pyruvate kinase in sickle cell disease:a novel target for mitapivat therapy

Rab Minke A E, Bos Jennifer, van Oirschot Brigitte, Straaten Stephanie van, Kosinski Penelope A, Chubukov Victor, Kim Hyeryun, Mangus Heidi, Schutgens Roger E G, Pasterkamp Gerard, Dang Lenny, Kung Charles, van Beers Eduard J, van Wijk Richard 10 Mar 2021, In: Blood. 137 , p. 2997-3001 5 p.

Impaired Cytoskeletal and Membrane Biophysical Properties of Acanthocytes in Hypobetalipoproteinemia – A Case Study

Cloos Anne Sophie, Daenen Laura G.M., Maja Mauriane, Stommen Amaury, Vanderroost Juliette, Van Der Smissen Patrick, Rab Minke, Westerink Jan, Mignolet Eric, Larondelle Yvan, Terrasi Romano, Muccioli Giulio G., Dumitru Andra C., Alsteens David, van Wijk Richard, Tyteca Donatienne 23 Feb 2021, In: Frontiers in Physiology. 12

The interplay between drivers of erythropoiesis and iron homeostasis in rare hereditary anemias:Tipping the balance

Grootendorst Simon, de Wilde Jonathan, van Dooijeweert Birgit, van Vuren Annelies, van Solinge Wouter, Schutgens Roger, van Wijk Richard, Bartels Marije 2 Feb 2021, In: International journal of molecular sciences. 22 17 p.

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency

van Vuren Annelies, van Beers Eduard, van Wijk Richard 20 Jan 2021, In: Frontiers in Physiology [E]. 11

Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

Van Dooijeweert Birgit, Broeks Melissa H., Verhoeven-Duif Nanda M., Van Solinge Wouter W., Van Beers Eduard J., Rab Minke A.E., Nieuwenhuis Edward E.S., Jans Judith J.M., Bartels Marije, Van Wijk Richard 2021, In: HemaSphere. 5 , p. 1-4

Comparisons of oxygen gradient ektacytometry parameters between sickle cell patients with or without α-thalassaemia

Boisson Camille, Renoux Céline, Nader Elie, Gauthier Alexandra, Poutrel Solène, Rab Minke, Fort Romain, Bertrand Yves, Stauffer Emeric, Cannas Giovanna, Kebaili Kamila, Virot Emilie, Hot Arnaud, Sheehan Vivien, van Beers Eduard, van Wijk Richard, Joly Philippe, Connes Philippe 2021, In: British Journal of Haematology. 195 , p. 629-633 5 p.

A Comprehensive Analysis of the Erythropoietin-erythroferrone-hepcidin Pathway in Hereditary Hemolytic Anemias

van Vuren Annelies J, Sharfo Alaa, Grootendorst Simon T, van Straaten Stephanie, Punt Arjen M, Petersen Jesper B, El Fassi Daniel, van Solinge Wouter W, Bartels Marije, van Wijk Richard, Glenthøj Andreas, van Beers Eduard J 2021, In: HemaSphere. 5

All research output

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