Genetics and Genomics
Our work
Researchers in the Centre for Genetics and Genomics have played a key role in developing large-scale sources of clinical and genomic data, including the UK Rare Kidney Disease (RaDaR) Registry and the 100,000 Genomes project.Ìý
WeÌýuse statistical, computational and laboratory-based tools to gain new insights into the biology underlying a range of disorders. This includes the discovery of novel monogenic disorders, such as EAST syndrome and CFHR5 nephropathy, as well as detecting other types of genetic association, across the full range of allele frequency and effect size, leading to new insights into a range of immune-mediated and developmental kidney diseases including membranous nephropathy, IgA nephropathy, nephrotic syndrome, Alport syndrome, kidney stones and posterior urethral valves.
We work closely with nephrology teams at the Royal Free Hospital and Great Ormond Street Hospital, and have strong links with the UK Kidney Association’s Rare Kidney Disease Registry () of which Professor Gale is the director. This is the largest registry of rare kidney diseases in the world and has provided significant insights into the clinical course and epidemiology of numerous rare kidney diseases.
Our researchers are experienced in the use of in vitro, in vivo, bioinformatic and statistical methods and we collaborate widely with other teams and institutions including sharing our expertise in genomic analyses beyond kidney diseases and we have strong ongoing collaborations with colleagues at 911±¬ÁÏÍø, the Francis Crick Institute and numerous other institutions worldwide.
Dr Omid Sadeghi-Alavijeh at APAM 2023
The Gale Group
(Head)
Dr Adam Levine
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Centre alumni
- Professor Detlef Bockenhauer
- Professor Robert Kleta
- Dr Evgenia Preka
- Dr Mallory Downie
- Dr Sanjana Gupta
- Dr Sergio Camilo Lopez Garcia
- Dr Matthew Stubbs
- Dr Stephanie Dufek
Selected PublicationsÌý
Sadeghi-Alavijeh O, Chan MM, Doctor GTÌý...ÌýStanescu HC, Bockenhauer DÌý...ÌýLevine AP, Gale DP (2024). . J Clin Invest. 2024 Aug 27: e181467.
Gale DP, Gross O, Wang F,Ìýet al (2024). . Clin J Am Soc Nephrol. 2024 Aug 1;19(8): 995-1004.
Voinescu CD, Mozere M, Genovese G, Downie ML, Gupta S, Gale DP, Bockenhauer D, Kleta R, Arcos-Burgos M, Stanescu HC (2024). . Kidney Int. 2024 Apr;105(4): 791-798.
Wong K, Pitcher D, Braddon F ...ÌýWilson PÌý...ÌýBockenhauer D, Bramham K, Gale DP; RaDaR consortium (2024). . Lancet. 2024 Mar 30;403(10433): 1279-1289.
Sadeghi-Alavijeh O, Chan MMY ...ÌýGale DP, Böckenhauer D (2023). . Kidney Int. 2023 Nov;104(5): 975-984.
Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S ...ÌýKleta R, Bockenhauer D, Stanescu HC, Gale DPÌý(2023). . Kidney International Reports.
Pitcher D, Braddon F ...ÌýWong K, Turner AN, Wang K, Gale DP,Ìýet al (2023). . Clin J Am Soc Nephrol. 2023 Jun 1;18(6): 727-738.
Chan MMY, Sadeghi-Alavijeh O,ÌýStanescu HC, Kleta R, Bockenhauer D, Levine AP, Gale DP, et alÌý(2022). . Elife. 2022 Sep 20;11: e74777.
- Dixon PH, Levine AP, Chan MMYÌýGale DP, et alÌý(2022). . Nat Commun. 2022 Aug 17;13(1): 4840.
- Stubbs MJ, Coppo P ...ÌýDufek S, Levine APÌý...ÌýKleta R, Gale DP, Stanescu H, Scully MA (2022). . Haematologica. 2022 Mar 1;107(3):574-582.
- Kadkhodayi-Kholghi N, Bhatt JS ...ÌýGale DP, Perkins SJ (2020). . J Biol Chem. 2020 Nov 27;295(48): 16342-16358.Ìý
- Turro E, Astle WJ, Megy K ...ÌýGale DP, et al (2020).Ìý. Nature. 2020 Jul;583(7814): 96-102.
- Levine AP, Chan MMY, Sadeghi-Alavijeh OÌý...ÌýGale DP (2020). . J Am Soc Nephrol. 2020 Feb;31(2): 365-373.
- Dufek S, Cheshire C, Levine AP, Trompeter RS, Issler N, Stubbs M, Mozere M, Gupta S, Klootwijk E, Patel VÌý...ÌýGale DP, Stanescu HC, Kleta R, Bockenhauer D (2019). . J Am Soc Nephrol. 2019 Aug;30(8): 1375-1384.
- Reichold M, Klootwijk EDÌý...ÌýStanescu HC, Dumitriu S, Iancu D, Patel VÌý...ÌýGale DPÌý...ÌýBockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R (2018). . J Am Soc Nephrol. 2018 Jul;29(7): 1849-1858.
- Gale DP, Molyneux K, Wimbury D, Higgins P, Levine AP, Caplin B, Ferlin A, Yin P, Nelson CP, Stanescu H, Samani NJ, Kleta R, et al (2017). . J Am Soc Nephrol. 2017 Jul;28(7): 2158-2166.
- Cabezas OR, Flanagan SE, Stanescu H, GarcÃa-MartÃnez E ...ÌýPatel VÌý...ÌýWilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D (2017). . J Am Soc Nephrol. 2017 Aug;28(8):Ìý 2529-2539.
- Klootwijk ED, Reichold M, Helip-Wooley A ...ÌýStanescu HC, Bockenhauer DÌý...ÌýKleta R (2014). . N Engl J Med. 2014 Jan 9;370(2): 129-38.
- Stanescu HC, Arcos-Burgos M, Medlar A, Bockenhauer D, Kottgen A, Dragomirescu L, Voinescu CÌý...ÌýKleta R (2011). . N Engl J Med. 2011 Feb 17;364(7): 616-26.
- Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, et al (2010). . Lancet. 2010 Sep 4;376(9743): 794-801.
Funding and partnerships
Facilities
The Centre for Genetics and Genomics has wet lab facilities well equipped for molecular biology, protein biochemistry, cell culture, histology/IHC and in vivo experimentation.
We run our own secure, high performance data server and can access the UCL Advanced Research Computing Centre resources.
Related programmes
Our members contribute to the MBBS, iBSc, BSc and master's degrees within the Division of Medicine. We provide MSc/MRes research project supervision. We also have an established track record in providing high-quality training to PhD students interested in epidemiological, genomic, proteomic and immunological aspects of kidney disease.