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Dr Riko Klootwijk
Division of Medicine, UCL Department of Renal Medicine
2nd floor Royal Free and University Medical School, Rowland Hill Street, London, NW3 2PF
Tel: +44 (0)20-80168254 (ext 68254)
Dr Riko Klootwijk profile picture
  • Lecturer
  • Renal Medicine
  • Div of Medicine
  • Faculty of Medical Sciences

‘Molecular genetics, our latest wonder, has taught us to spell out the connectivity of the tree of life in such palpable detail that we may say in plain words, ‘’This riddle of life has been solved’’ (Max Ludwig Henning Delbruck From Nobel Lecture (10 Dec 1969), ‘a Physicist’s Renewed Look at Biology – Twenty Years later.’in Nobel Lectures,Physiology or Medicine 1963-1970(1972),405.)

For me this riddle meant just the start of a new journey in uncovering the functionality of molecular genetics in human diseases.

I am interested in getting a better understanding in the functional impact of causative mutations in hereditary proximal tubulopathies, as well as acquired tubular problems.

One of these tubular diseases is called renal Fanconi syndrome. Recently we have found the genetic factor GAPDH that causes renal Fanconi syndrome in several large families, and unravelled the molecular pathology associated with this disease.

Proximal tubular cells are also highly susceptible to damage inflicted in conditions associated with oxygen and nutrient deprivation (OND) that happens for instance during surgeries and transplantation. Damaged proximal tubular cells attract immune cells like macrophages and T-cells, which play an important role in further development of this disease.

We are currently studying acquired and hereditary forms of proximal tubular dysfunction using bioinformatics and applied genomics technologies:
1. Confocal microscopical and FACS analysis
2. Nucleic acid based gene silencing/modification in cells, e.g. LNA GapMers, RNAi and gene-editing
4. Real time-PCR analysis, digital PCR analysis and Sanger sequencing
5. 1D-protein gelelectrophoresis, ELISA, EMSA, and iso-electric focusing
6. Promoter reporter analysis
7. OMICS analysis
8. Ex vivo culture of renal sections and in vitro cell (co-) culture and mouse model generation/testing

Research Summary

I have developed a particular interest in renal translational research with focus on the use of applied genomics in studying proximal tubular defects.

*renal Fanconi syndrome
*Ischemia Reperfusion Injury of proximal tubular cells

Selected published research/patents:

1. U.S. Provisional Application No. 60/718,321 filed Sep 20 2005, New Method for Quantification of Allele-Specific RNA Expression, that Can be Used for Detection of Various Genetic Disorders.
2. United States patent number 8,410,063 B2. date of patent April 2 2013. N-acetyl mannosamine as a therapeutic agent.

Selected articles
1. Nadarajah L, Khosravi M, Dumitriu S, Klootwijk E, Kleta R, Yaqoob MM, et al. A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis. Lancet. 2014;383(9911):98.
2. Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, et al. Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. N Engl J Med. 2014;370(2):129-38.
3. Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D. Renal Fanconi syndrome: taking a proximal look at the nephron. Nephrol Dial Transplant. 2015;30(9):1456-60.
4. Assmann N, Dettmer K, Simbuerger JMB, Broeker C, Nuernberger N, Renner K, et al. Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy. Cell Rep. 2016;15(7):1423-9.
5. Cabezas OR, Flanagan SE, Stanescu H, Garcia-Martinez E, Caswell R, Lango-Allen H, et al. Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. J Am Soc Nephrol. 2017;28(8):2529-39.
6. Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, et al. Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. J Am Soc Nephrol. 2018;29(7):1849-58.
7. Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, et al. Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2019;30(8):1375-84.
8. Marchesin V, Perez-Marti A, Le Meur G, Pichler R, Grand K, Klootwijk ED, et al. Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A. Cell Rep. 2019;29(13):4407-21 e5.

Teaching Summary

Post Graduate Certificate in Learning and Teaching in Higher Education (PGCLTHE), 2010.

Academic Background
2004   Doctor Radboud Universiteit Nijmegen
1999   Master Rijksuniversiteit Groningen
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