Research Associate, Laboratory for Regenerative Medicine
Biographical information/Research interests
After completing an undergraduate in Biochemistry, Rute Tomaz joined Dr Branca Cavaco’s lab (CEDOC, Nova University of Lisbon, Portugal) as a Research Assistant, to investigate molecular defects in patients with endocrine-related disorders. She was awarded a PhD fellowship from the Portuguese Ministry of Science and Technology to join Dr Véronique Azuara’s lab at Imperial College London in 2011. Here, she explored the role of the histone demethylase Jmjd2c/Kdm4c in embryonic stem cells. In 2016, she joined Professor Ludovic Vallier’s lab at the Wellcome Trust MRC Cambridge Stem Cell Institute to pursue postdoctoral research which focuses on iPSC differentiation into hepatocytes and hepatocyte maturation.
Her primary aim is to take advantage of high-throughput sequencing technologies (RNA-seq, ChIP-seq, Hi-C) to uncover molecular differences between in vitro generated hepatocytes and adult primary hepatocytes. Moreover, the resulting knowledge can have significant applications in the improvement of in vitro generation of hepatocytes from iPSCs for disease modelling, cell therapies and drug screenings.
Tomaz RA, Harman JL, Karimlou D, Weavers L, Fritsch L, Bou-Kheir T, Bell E, Torres ID, Niakan KK, Fisher C, Joshi O, Stunnenberg HG, Curry E, Ait-Si-Ali S, Jørgensen HF, Azuara V (2017) Jmjd2c/Kdm4c facilitates the assembly of essential enhancer-protein complexes at the onset of embryonic stem cell differentiation. Development 144(4):567-579
Percharde M, Lavial F, Ng JH, Kumar V, Tomaz RA, Martin N, Yeo JC, Gil J, Prabhakar S, Ng HH, Parker MG, Azuara V (2012) Ncoa3 functions as an essential Esrrb coactivator to sustain embryonic stem cell self-renewal and reprogramming. Genes & Development 15;26 (20):2286-98.
Lavial F, Bessonnard S, Ohnishi Y, Tsumura A, Chandrashekran A, Fenwick MA, Tomaz RA, Hosokawa H, Nakayama T, Chambers I, Hiiragi T, Chazaud C, Azuara V (2012) Bmi1 facilitates primitive endoderm formation by stabilizing Gata6 during early mouse development. Genes & Development 1;26 (13):1445-58.
Pereira JS, da Silva JG, Tomaz RA, Pinto AE, Bugalho MJ, Leite V, Cavaco BM (2015) Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). Endocrine. 49(1):204-14.
Tomaz RA, Sousa I, Silva JG, Santos C, Teixeira MR, Leite V, Cavaco BM (2012) FOXE1 polymorphisms are associated with familial and sporadic nonmedullary thyroid cancer susceptibility. Clinical Endocrinol (Oxf). 77(6):926-33
Domingues R, Tomaz RA, Martins C, Nunes C, Bugalho MJ, Cavaco BM (2011) Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism. Clinical Endocrinol (Oxf). 76, 33-38.
Cavaco BM*, Tomaz RA*, Fonseca F, Mascarenhas MR, Leite V and Sobrinho LG (2010) Characterization of GNAS Imprinting Defects in Portuguese Patients with Pseudohypoparathyroidism Type Ib. Endocrine. 37, 408-14.
Tomaz RA, Cavaco BM, and Leite V (2010) Dimethyl Sulfoxide Prevents Allele Dropout and Incorrect Genotyping of a Differentially Methylated Region at the GNAS locus. Genetic Testing and Molecular Biomarkers. 14, 455-60.
Areas of expertise
Stem cell biology, differentiation, hepatocytes, epigenetics