Dr Laura Fachal | Senior Data Scientist

Fachal, Laura

I am a Researcher in Human Genetics. During my PhD I studied the role of common genetic variation in the development of radiation induced toxicity. I came to the UK as a postdoc with a Marie Skłodowska-Curie IF Fellowship to work at the University of Cambridge. My work there was to determine, through fine mapping approaches, how common variations increase the risk of developing breast cancer risk and radiation induced toxicity. Since then I have become particularly interested in understanding the biological mechanisms by which genetic variation affects complex phenotypes. My current postdoctoral role focuses on inflammatory bowel disease at Carl Anderson's team.

Publications

  • Association analysis identifies 65 new breast cancer risk loci.

    Michailidou K, Lindström S, Dennis J, Beesley J, Hui S et al.

    Nature 2017;551;7678;92-94

  • From candidate gene studies to GWAS and post-GWAS analyses in breast cancer.

    Fachal L and Dunning AM

    Current opinion in genetics & development 2015;30;32-41

  • Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

    Esperón-Moldes U, Ginarte Val M, Rodríguez-Pazos L, Fachal L, Azaña JM et al.

    Acta dermato-venereologica 2019

  • Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population.

    Esperón-Moldes US, Pardo-Seco J, Montalván-Suárez M, Fachal L, Ginarte M et al.

    Scientific reports 2019;9;1;7175

  • ABCA12 mutations in patients with autosomal recessive congenital ichthyosis: evidence of a founder effect in the Spanish population and phenotype-genotype implications.

    Esperón-Moldes U, Ginarte M, Rodríguez-Pazos L, Fachal L, Pozo T et al.

    Journal of dermatological science 2018;91;3;328-331

  • Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

    Dadaev T, Saunders EJ, Newcombe PJ, Anokian E, Leongamornlert DA et al.

    Nature communications 2018;9;1;2256

  • Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

    Milne RL, Kuchenbaecker KB, Michailidou K, Beesley J, Kar S et al.

    Nature genetics 2017;49;12;1767-1778

  • Association analysis identifies 65 new breast cancer risk loci.

    Michailidou K, Lindström S, Dennis J, Beesley J, Hui S et al.

    Nature 2017;551;7678;92-94

  • Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.

    Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J et al.

    The British journal of dermatology 2017;177;1;319-322

  • The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.

    Amos CI, Dennis J, Wang Z, Byun J, Schumacher FR et al.

    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017;26;1;126-135

  • Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.

    Andreassen CN, Rosenstein BS, Kerns SL, Ostrer H, De Ruysscher D et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2016;121;3;431-439

  • Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.

    Martinón-Torres F, Png E, Khor CC, Davila S, Wright VJ et al.

    Scientific reports 2016;6;35842

  • Meta-analysis of Genome Wide Association Studies Identifies Genetic Markers of Late Toxicity Following Radiotherapy for Prostate Cancer.

    Kerns SL, Dorling L, Fachal L, Bentzen S, Pharoah PD et al.

    EBioMedicine 2016;10;150-63

  • Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity.

    Ahmed M, Dorling L, Kerns S, Fachal L, Elliott R et al.

    British journal of cancer 2016;114;10;1165-74

  • EGFR testing and clinical management of advanced NSCLC: a Galician Lung Cancer Group study (GGCP 048-10).

    Vázquez S, Casal J, Afonso Afonso FJ, Fírvida JL, Santomé L et al.

    Cancer management and research 2016;8;11-20

  • From candidate gene studies to GWAS and post-GWAS analyses in breast cancer.

    Fachal L and Dunning AM

    Current opinion in genetics & development 2015;30;32-41

  • No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

    Fachal L, Mosquera-Miguel A, Pastor P, Ortega-Cubero S, Lorenzo E et al.

    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015;168B;1;54-65

  • Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

    Zugazagoitia J, Pérez-Segura P, Manzano A, Blanco I, Vega A et al.

    Breast cancer research and treatment 2014;148;2;415-21

  • A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1.

    Fachal L, Gómez-Caamaño A, Barnett GC, Peleteiro P, Carballo AM et al.

    Nature genetics 2014;46;8;891-4

  • Radiogenomics: radiobiology enters the era of big data and team science.

    Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN et al.

    International journal of radiation oncology, biology, physics 2014;89;4;709-13

  • No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort.

    Fachal L, Gómez-Caamaño A, Alvarez Iglesias V, Gómez Carballa A, Calvo P et al.

    Journal of human genetics 2014;59;7;411-4

  • A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.

    Barnett GC, Thompson D, Fachal L, Kerns S, Talbot C et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2014;111;2;178-85

  • Evaluating the role of mitochondrial DNA variation to the genetic predisposition to radiation-induced toxicity.

    Fachal L, Mosquera-Miguel A, Gómez-Caamaño A, Sánchez-García M, Calvo P et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2014;111;2;199-205

  • Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.

    Fachal L, Rodríguez-Pazos L, Ginarte M, Carracedo A, Toribio J and Vega A

    The British journal of dermatology 2014;170;4;980-2

  • Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

    Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R et al.

    Clinical chemistry 2014;60;2;341-52

  • Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.

    Fachal L, Blanco A, Santamariña M, Carracedo A and Vega A

    PloS one 2014;9;3;e93306

  • Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.

    Walker LC, Whiley PJ, Houdayer C, Hansen TV, Vega A et al.

    Human mutation 2013;34;10;1424-31

  • Genome-wide association study identifies a region on chromosome 11q14.3 associated with late rectal bleeding following radiation therapy for prostate cancer.

    Kerns SL, Stock RG, Stone NN, Blacksburg SR, Rath L et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2013;107;3;372-6

  • CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families.

    Fachal L, Santamariña M, Blanco A, Carracedo A and Vega A

    Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2013;15;2;164-5

  • Indian signatures in the westernmost edge of the European Romani diaspora: new insight from mitogenomes.

    Gómez-Carballa A, Pardo-Seco J, Fachal L, Vega A, Cebey M et al.

    PloS one 2013;8;10;e75397

  • Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients.

    Fachal L, Gómez-Caamaño A, Peleteiro P, Carballo A, Calvo-Crespo P et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2012;105;3;321-8

  • TGFβ1 SNPs and radio-induced toxicity in prostate cancer patients.

    Fachal L, Gómez-Caamaño A, Sánchez-García M, Carballo A, Peleteiro P et al.

    Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2012;103;2;206-9

  • Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

    Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS et al.

    Breast cancer research and treatment 2012;132;3;1009-23

  • Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

    Fachal L, Rodríguez-Pazos L, Ginarte M, Beiras A, Suárez-Peñaranda JM et al.

    International journal of dermatology 2012;51;4;427-30

  • Multiple local and recent founder effects of TGM1 in Spanish families.

    Fachal L, Rodríguez-Pazos L, Ginarte M, Toribio J, Salas A and Vega A

    PloS one 2012;7;4;e33580

  • BRCA1 mutations do not increase prostate cancer risk: results from a meta-analysis including new data.

    Fachal L, Gómez-Caamaño A, Celeiro-Muñoz C, Peleteiro P, Blanco A et al.

    The Prostate 2011;71;16;1768-79

  • Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

    Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A and Vega A

    The British journal of dermatology 2011;165;4;906-11

  • Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

    Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T et al.

    Breast cancer research and treatment 2011;128;2;573-9

  • Establishment of a Radiogenomics Consortium.

    West C, Rosenstein BS, Alsner J, Azria D, Barnett G et al.

    International journal of radiation oncology, biology, physics 2010;76;5;1295-6

  • Beyond BRCA1 and BRCA2 wild-type breast and/or ovarian cancer families: germline mutations in TP53 and PTEN.

    Blanco A, Graña B, Fachal L, Santamariña M, Cameselle-Teijeiro J et al.

    Clinical genetics 2010;77;2;193-6

  • Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease.

    Salas A, Fachal L, Marcos-Alonso S, Vega A, Martinón-Torres F and Grupo de investigación ESIGEM (Estudio Sobre la Influencia Genética en la Enfermedad Meningocócica)

    PloS one 2009;4;12;e8347

Fachal, Laura
Laura's Timeline
2019

Senior Data Scientist at the Wellcome Sanger Institute (Anderson's group)

2018

Postdoctoral Fellow at the Wellcome Sanger Institute (Anderson's group)

2016

Awarded Marie Sklodowska-Curie IF Fellow. University of Cambridge, Centre for Cancer Genetic Epidemiology

2015

Young Researcher in Human Genetics Award. Spanish Association of Human Genetics

2014

Awarded Xunta de Galicia Postdoctoral Fellow. Visiting researcher at the University of Cambridge, Centre for Cancer Genetic Epidemiology

2013

PhD Biotechnology (Summa cum Laude). University of Santiago de Compostela

2008

MSc Biotechnology. University of Santiago de Compostela

2006

BSc Veterinary Medicine. University of Santiago de Compostela