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Genetics and Genomics
Dr Melanie Chan, post-doctoral researcher at the Centre for Genetics and Genomics, wins听a听prestigious annual award听given to early career researchers in recognition of a significant contribution to renal research.
David Pitcher et al. have used data from the UK National Registry of Rare Kidney Diseases to delineate outcomes in IgA nephropathy.
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.听
We听use 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鈥檚 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 乱伦秀, 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 Publications听
Sadeghi-Alavijeh O, Chan MM, Doctor GT听...听Stanescu HC, Bockenhauer D听...听Levine AP, Gale DP (2024). . J Clin Invest. 2024 Aug 27: e181467.
Gale DP, Gross O, Wang F,听et 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 ...听Wilson P听...听Bockenhauer D, Bramham K, Gale DP; RaDaR consortium (2024). . Lancet. 2024 Mar 30;403(10433): 1279-1289.
Sadeghi-Alavijeh O, Chan MMY ...听Gale DP, B枚ckenhauer D (2023). . Kidney Int. 2023 Nov;104(5): 975-984.
Downie ML, Gupta S, Voinescu C, Levine AP, Sadeghi-Alavijeh O, Dufek-Kamperis S ...听Kleta R, Bockenhauer D, Stanescu HC, Gale DP听(2023). . Kidney International Reports.
Pitcher D, Braddon F ...听Wong K, Turner AN, Wang K, Gale DP,听et al (2023). . Clin J Am Soc Nephrol. 2023 Jun 1;18(6): 727-738.
Chan MMY, Sadeghi-Alavijeh O,听Stanescu HC, Kleta R, Bockenhauer D, Levine AP, Gale DP, et al听(2022). . Elife. 2022 Sep 20;11: e74777.
- Dixon PH, Levine AP, Chan MMY听Gale DP, et al听(2022). . Nat Commun. 2022 Aug 17;13(1): 4840.
- Stubbs MJ, Coppo P ...听Dufek S, Levine AP听...听Kleta R, Gale DP, Stanescu H, Scully MA (2022). . Haematologica. 2022 Mar 1;107(3):574-582.
- Kadkhodayi-Kholghi N, Bhatt JS ...听Gale DP, Perkins SJ (2020). . J Biol Chem. 2020 Nov 27;295(48): 16342-16358.听
- Turro E, Astle WJ, Megy K ...听Gale DP, et al (2020).听. Nature. 2020 Jul;583(7814): 96-102.
- Levine AP, Chan MMY, Sadeghi-Alavijeh O听...听Gale 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 V听...听Gale DP, Stanescu HC, Kleta R, Bockenhauer D (2019). . J Am Soc Nephrol. 2019 Aug;30(8): 1375-1384.
- Reichold M, Klootwijk ED听...听Stanescu HC, Dumitriu S, Iancu D, Patel V听...听Gale DP听...听Bockenhauer 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, Garc铆a-Mart铆nez E ...听Patel V听...听Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D (2017). . J Am Soc Nephrol. 2017 Aug;28(8):听 2529-2539.
- Klootwijk ED, Reichold M, Helip-Wooley A ...听Stanescu HC, Bockenhauer D听...听Kleta 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 C听...听Kleta 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 乱伦秀 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.
