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Department of Renal Medicine

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Centre for Genetics and Genomics

We use bioinformatic and functional biology approaches to study genetic kidney disease

Use of genetic technologies such as genotyping and large-scale whole genome sequencing has allowed researchers in the Centre for Genetics and Genomics to gain new insights into the biology underlying a range of kidney diseases. This includes discovery of novel monogenic disorders, such as EAST syndrome and CFHR5 nephropathy, as well as providing key insights into the causes and contributors to a range of more common kidney diseases such as membranous nephropathy, IgA nephropathy and nephrotic syndrome.

Researchers in the Centre are experienced in the use of in vitroin vivo and bioinformatic methods to study the mechanisms by which genetic variation contributes to disease, including the development of potential novel therapies.

Notable publications from the centre include (full list here and below):

1.       Bockenhauer, D. et al. (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. New England Journal of Medicine, 360 (19), 1960-1970.

2.       Gale, D.P. et al. (2010). Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. LANCET, 376 (9743), 794-801. doi:10.1016/S0140-6736(10)60670-8

3.       Stanescu, H.C. et al. (2011). Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. NEW ENGLAND JOURNAL OF MEDICINE, 364 616-626. doi:10.1056/NEJMoa1009742

4.       Klootwijk, E.D. et al. (2014). Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome. New England Journal of Medicine, 370 129-138.

5.       Cabezas, O.R. et al. (2017). Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2. Journal of the American Society of Nephrology, doi:10.1681/ASN.2016121312

6.       Gale, D.P. et al. (2017). Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1. J Am Soc Nephrol, doi:10.1681/ASN.2016091043

7.       Reichold, M. et al. (2018). Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. Journal of the American Society of Nephrology : JASN, doi:10.1681/asn.2017111179

8.       Dufek, S. et al. (2019). Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. J Am Soc Nephrol. 2019 Aug;30(8):1375-1384. doi: 10.1681/ASN.2018101054.

9.       Levine, A.P. et al. (2020). Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy. J Am Soc Nephrol. 2020 Feb;31(2):365-373. doi: 10.1681/ASN.2019040433.

10.     Turro, E., Astle, W.J., Megy, K., Gräf, S., Greene, D., Shamardina, O., ...Thys, C. (2020). Whole-genome sequencing of patients with rare diseases in a national health system. Nature, doi:10.1038/s41586-020-2434-2

11.      Kadkhodayi-Kholghi, N., Bhatt, J.S., Gor, J., McDermott, L.C., Gale, D.P., Perkins, S.J. (2020). The solution structure of the complement deregulator FHR5 reveals a compact dimer and provides new insights into CFHR5 nephropathy. Journal of Biological Chemistry, jbc.RA120.015132. doi:10.1074/jbc.ra120.015132

12.      Stubbs, M.J., Coppo, P., Cheshire, C., Veyradier, A., Dufek, S., Levine, A.P., ...Hubank, M. (2021). Identification of a novel genetic locus associated with immune mediated thrombotic thrombocytopenic purpura.. Haematologica, doi:10.3324/haematol.2020.274639

Faculty

danny

Professor Daniel Gale

Head of Centre

  • Adult nephrologist
  • Complement mediated disease
  • Polycystic Kidney Disease
  • Alport Syndrome
  • Unexplained Familial kidney failure  

detlef

Professor Detlef Bockenhauer

Deputy Head

  • Paedatric nephrologist
  • Inherited kidney diseases
  • Tubulopathies
  • Renal physiology

 

robert
Professor Robert Kleta
  • Director of UCL Division of Medicine
  • Paediatric nephrologist 
  • Rare metabolic and renal disorders
horia
Dr Horia Stanescu

Lecturer

  • genetic / genomic / multi-omic analysis
  • bioinformatics /computational biology
  • expression regulation
  • evolutionary pathogenesis
 Dr Anselm Zdebik 
 Professor Patricia Wilson
  • Polycystic kidney disease

 

Centre Staff 

omid
Dr Omid Sadeghi-Alavijeh

MRC Doctoral Fellow

  • Adult nephrology trainee
  • Computational biology in rare kidney disorders
  • Polycystic kidney disease 
  • 100,000 genomes project

 

mel
Dr Melanie Chan

KRUK Doctoral Fellow

  • Adult nephrology trainee
  • Computational biology in rare kidney disorders
  • Congential abnormalities of the kidney and urinary tract (CAKUT)
  • 100,000 genomes project
sanj
Dr Sanjana Gupta

PhD Student

  • Adult nephrology trainee
  • Bioinformatics 
  • Membranous nephropathy 

 

mallory
Dr Mallory Downie

KRESCENT Doctoral Fellow 

  • Paediatric nephrologist 
  • Bioinformatics 
  • Steroid sensitive nephrotic syndrome in multi-ethnic population

 

adam
Dr Adam Levine

Research Associate

  • Histopathology trainee
  • Computational biology 
  • Genetics and pathogenesis of IBD
  • Genetics of membranoproliferative glomerulonephritis
  • Genetic variation in tissue morphology
matt
Dr Matthew Stubbs

Clinical doctoral fellow

 

 

Dr Sergio Camilo Lopez Garcia

PhD Student

 

 

Photo of Catalin Voinescu
Catalin Voinescu

Computational Scientist 

 

Photo of Vaksha Patel
Dr Vaksha Patel

Lab Manager

  • Proteomics in rare kidney disease
  • Phosphoproteomics
  • Bioinformatics
Photo of Joshua Carmichael
Joshua Carmichael

MB/PhD Student

  • Structural immunology of CFHR5
  • Complement mediated kidney disease