Expression of Interest

Contact Person/Scientist in Charge

  • Name and surname: Salud Borrego López
  • Email: salud.borrego.sspaSPAMFILTER@juntadeandalucia.es

INSTITUTO DE BIOMEDICINA DE SEVILLA

Department / Institute / Centre

  • Name: Clinical Genetics and Genomic Medicine Institute of Biomedicine of Seville (IBiS)
  • Address: Avda. Manuel Siurot s/n. IBiS Building University Hospital Virgen del Rocío. 41013, Seville
  • Province: Sevilla

Research Area

  • Life Sciences (LIF)

Brief description of the institution:

The Institute of Biomedicine of Seville is a high quality joint research centre established in 2006 as a health research, being participated by the Andalusian Regional Ministry for Innovation, Science and Enterprise, the Andalusian Regional Ministry of Health, the Spanish National Research Council, the University of Seville and the Andalusian Health Service, having these entities a common interest in fostering collaboration and cooperation and in joining efforts in the field of health research. It is one of the 18 health research institutes accredited in Spain by the Spanish Research Council (Instituto de Salud Carlos III).
IBIS is a multidisciplinary biomedical research centre, with the aim to undertake high quality and competitive research at international level on the most prevalent diseases. IBIS is based on fundamental research at the molecular and cellular level with a view to promote the rapid transfer of knowledge to the clinical setting, at the same time improving the quality of clinical and epidemiological research. It is focused on most prevalent diseases and organized in 4 research areas: Neurosciences, Cardiovascular & Respiratory pathology, Oncohematology & Genetics, and Infectious diseases & Immune system.

Brief description of the Centre/Research Group (including URL if applicable):

Main research lines:

Hirschsprung's disease. Keywords: HSCR, Enteric Nervous System, NGS, epigenetics.

Thyroid cancer. Keywords: Sporadic tumors; familial cancer, NGS, epigenetics.

Representative publications in the last year:

-Gui et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biol, 18:48, 2017

-Mancikova et al.  Multilayer OMIC data in medullary thyroid carcinoma identifies the STAT3 pathway as a potential therapeutic target in RETM918T Tumors. Clin Cancer Res, 23:1334-45, 2017

-Enguix-Riego et al. Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of HSCR. Sci Rep, 6:21160, 2016

-Dopazo et al, 267 Spanish exomes reveal population-specific differences in disease-related genetic variation. Mol Biol Evol, 33:1205-18, 2016

Current research grants

-“Genomic and epigenetic approaches for the identification of genes associated to Hirschsprung disease and thyroid cancer”. Instituto de Salud Carlos III( PI16/0142)

-“Megasequencing and GWES to identify molecular mechanisms involved in Hirschsprung disease” Autonomous Government of Andalucia (CTS-7447)

Collaborations

Our group is part of the International HSCR Consortium, established in 2004, together with another 5 groups: Baltimore (A Chakravarti); Paris (S Lyonnet); Genoa (I Ceccherini); Rotterdam (R Hofstra ) and Hong Kong (P Tam).

https://www.ibis-sevilla.es/investigacion/oncohematologia-y-genetica/genetica-clinica-y-medicina-genomica/borrego-lopez-salud.aspx?lang=en-US

Project description:

The selected candidate will be involved in new genomic analysis technologies such as Next Generation Sequencing (NGS), to unravel the genetic complexity of HSCR and thyroid cancer. The application of these techniques is allowing the discovery of new diagnostic biomarkers and subsequent development of rationalized diagnostic tools, based on the specific capture of genes of interest. To find these new biomarkers, we propose different strategies: 1) complete genome sequencing to identify new mutational events responsible for the frames and, therefore, new candidate genes for each disease; 2) epigenetic studies for the identification of new mechanisms involved in the selective expression of genes at crucial moments for the development of each disease; 3) functional studies and animal models to obtain evidence in vitro and in vivo of the implication of the new genes identified in each pathology.

Applications

CV, including contact information of two researchers familiar with the candidate.

Expertise in sequencing, genetic studies and functional studies will be considered positively.

A letter of motivation

Deadline: 31/08/2017

I want to contact the Institution

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