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 vitro, in 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

	Professor Daniel Gale	Head of Centre Adult nephrologist Complement mediated disease Polycystic Kidney Disease Alport Syndrome Unexplained Familial kidney failure
	Professor Detlef Bockenhauer	Deputy Head Paedatric nephrologist Inherited kidney diseases Tubulopathies Renal physiology
	Professor Robert Kleta	Director of UCL Division of Medicine Paediatric nephrologist  Rare metabolic and renal disorders
	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
	Dr Omid Sadeghi-Alavijeh	MRC Doctoral Fellow Adult nephrology trainee Computational biology in rare kidney disorders Polycystic kidney disease  100,000 genomes project
	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
	Dr Sanjana Gupta	PhD Student Adult nephrology trainee Bioinformatics  Membranous nephropathy
	Dr Mallory Downie	KRESCENT Doctoral Fellow  Paediatric nephrologist  Bioinformatics  Steroid sensitive nephrotic syndrome in multi-ethnic population
	Dr Adam Levine	Research Associate Histopathology trainee Computational biology  Genetics and pathogenesis of IBD Genetics of membranoproliferative glomerulonephritis Genetic variation in tissue morphology
	Dr Matthew Stubbs	Clinical doctoral fellow
	Dr Sergio Camilo Lopez Garcia	PhD Student
	Catalin Voinescu	Computational Scientist
	Dr Vaksha Patel	Lab Manager Proteomics in rare kidney disease Phosphoproteomics Bioinformatics
	Dr Evgenia Preka	Clinical Research Fellow in Renal Genomics  Paediatric nephrologist Epidemiology in rare renal diseases  Biostatistics
	Dr Joanna Smith	Postdoctoral Research Fellow Protein Biochemistry Molecular Biology Complement mediated kidney disease
	Joshua Carmichael	MB/PhD Student Structural immunology of CFHR5 Complement mediated kidney disease