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Dr Riko Klootwijk
UCL Centre for Nephrology and Department of Medicine, London, 1st floor Royal Free
Tel: 0044 20 77940500
Fax: 0044 20 7472 6476
  • Lecturer
  • Nephrology
  • Div of Medicine
  • Faculty of Medical Sciences
UCL Subsidiary Supervisor

‘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.
By being involved in academic research for a long period, I have gained considerable interest in the functional genetics of rare diseases, like Hereditary Inclusion Body Myopathy. This disease is caused by mutations in the gene Gne. Unexpected our knockin mice for Gne showed a renal phenotype with defective podocytes within the renal filtration apparatus, evident as podocyte effacement. This observation sparked my interest in renal disease and since then I continued working on the functional impact of genetics on renal diseases.

At present I try to get a better understanding in the functional impact of causative mutations in hereditary tubular diseases. One of these tubular diseases is called renal Fanconi syndrome. Recently we have found the genetic factor EHHADH that causes renal Fanconi syndrome in a large family. The mutation p.E3K in these patients creates a mitochondrial signal peptide that leads to abnormal mitochondrial localization of EHHADH. Furthermore, we have found that this mutation leads likely to an abnormal lipid metabolism.      

In order to study hereditary renal diseases I make use of wide range of cell biological and molecular biology techniques:
1. Confocal microscopical analysis 
2. Cloning and different approaches to obtain RNA interference in cells
3. Histological analysis
4. Real time-PCR analysis, digital PCR analysis and Sanger sequencing 
5. 1D-protein gelelectroforesis, ELISA, EMSA, and iso-electric focusing
6. Promoter reporter analysis
7. HPLC analysis
8. Cell culture and mouse model generation/testing

Research Themes
Research Summary

I have a particular interest in renal translational research. 

My research is focused to get a better understanding of the molecular pathology behind:

1. proximal tubular defects, like Fanconi syndrome

2. glomerular defects like Nephrotic syndrome

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.


Enriko D. Klootwijk, Ph.D., Markus Reichold, Ph.D., Amanda Helip-Wooley, Ph.D., Asad Tolaymat, M.D., Carsten Broeker, M.Sc., Steven L. Robinette, B.Sc.,...Robert Kleta, M.D., Ph.D. Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi’s Syndrome. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.

Nadarajah L, Khosravi M, Dumitriu S, Klootwijk E, Kleta R, Yaqoob MM, Walsh SB. A novel claudin-16 mutation, severe bone disease, and nephrocalcinosis. Lancet. 2014 Jan 4;383(9911):98. 

Klootwijk, R. D., Savelkoul, P. J., Ciccone, C., Manoli, I., Caplen, N. J., Krasnewich, D. M., . . . Huizing, M. (2008). Allele-specific silencing of the dominant disease allele in sialuria by RNA interference. FASEB J, 22 (11), 3846-3852. doi:10.1096/fj.08-110890

Galeano, B., Klootwijk, R., Manoli, I., Sun, M., Ciccone, C., Darvish, D., . . . Huizing, M. (2007). Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J Clin Invest, 117 (6), 1585-1594. doi:10.1172/JCI30954

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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