This young researcher with Portuguese roots works in the Department of Molecular Neuroscience, University College London (UCL). She was selected for her work on the mutation of the TREM2 gene, which is implicated as a possible risk factor for Alzheimer’s disease and for certain generative diseases such as frontotemporal dementia.

Rita Guerreiro presents her research project:
“Progress in the field of human genetics is often the result of technological advances. To study neurological diseases involving dementia, I used techniques recently developed in genetics, which make it possible to read all the DNA sequences of a protein.

These techniques are particularly well suited to studying families with genetically determined diseases, but also to comparing the influence of the genetic component in large patient cohorts compared to control subjects. I used this approach to identify mutations in the TREM2 gene in frontotemporal dementia as well as in other forms of dementia, which enabled me to show that changes in the TREM2 gene increase the risk of developing Alzheimer’s disease.

I am currently expanding this approach to the study of other rare forms of dementia, with the aim of identifying new genetic factors.”

Rita Guerreiro on the French Alzheimer’s Research Foundation (Fondation Recherche Alzheimer) website.

Publications from Rita Guerreiro

• The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders.
  Carmona S, Zahs K, Wu E, Dakin K, Bras J, Guerreiro R.
  Lancet Neurol. 2018 Aug;17(8):721-730. doi: 10.1016/S1474-4422(18)30232-1. Epub 2018 Jul 17. PMID: 30033062 Review.
• TREM2 variants in Alzheimer's disease.
  Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J; Alzheimer Genetic Analysis Group.
  N Engl J Med. 2013 Jan 10;368(2):117-27. doi: 10.1056/NEJMoa1211851. Epub 2012 Nov 14. PMID: 23150934
• Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
  Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W…
  Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. PMID: 36411364
• Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.
  Khani M, Gibbons E, Bras J, Guerreiro R.
  Mol Neurodegener. 2022 Jan 9;17(1):3. doi: 10.1186/s13024-021-00505-9. PMID: 35000612
• Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
  Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J.
  Nat Genet. 2009 Oct;41(10):1088-93. doi: 10.1038/ng.440. Epub 2009 Sep 6. PMID: 19734902
• Genetics of Alzheimer's disease.
  Guerreiro R, Hardy J.
  Neurotherapeutics. 2014 Oct;11(4):732-7. doi: 10.1007/s13311-014-0295-9. PMID: 25113539
• Genetic architecture of common non-Alzheimer's disease dementias.
  Guerreiro R, Gibbons E, Tábuas-Pereira M, Kun-Rodrigues C, Santo GC, Bras J.
  Neurobiol Dis. 2020 Aug;142:104946. doi: 10.1016/j.nbd.2020.104946. Epub 2020 May 19. PMID: 32439597
• How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
  Dehghani N, Bras J, Guerreiro R.
  Brain. 2021 May 7;144(4):1067-1081. doi: 10.1093/brain/awab028. PMID: 33889936
• Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease.
  Guerreiro R, Bras J, Toombs J, Heslegrave A, Hardy J, Zetterberg H.
  Curr Genet Med Rep. 2015;3(1):19-25. doi: 10.1007/s40142-014-0062-6. PMID: 25664224
• Complement receptor 1 (CR1) and Alzheimer's disease.
  Crehan H, Holton P, Wray S, Pocock J, Guerreiro R, Hardy J.
  Immunobiology. 2012 Feb;217(2):244-50. doi: 10.1016/j.imbio.2011.07.017. Epub 2011 Jul 23. PMID: 21840620

More publications from Rita Guerreiro are available on the National Library of Medicine website.