1 PhD position in the ENHPATHY Innovative Training Network (Marie Sklodowska-Curie MSCA-ITN Project...

ENHPATHY: training the new generation of researchers on the molecular basis of human enhanceropathies.

One position is available for a 2-year PhD program funded by the Marie Sklodowska-Curie Innovative Training Network (ITN) ENHPATHY. Candidates with bioinformatics, genomics and/or molecular and cellular biology backgrounds are encouraged to apply. The host lab offers opportunities to extend this period for one or two years to complete a full PhD thesis in the Centre for Genomics Regulation and Universitat Pompeu Fabra.

ENHPATHY is a multidisciplinary science consortium created in the frame of the Marie Sklodowska-Curie actions (MSCA)-ITN-ETN European Training Networks call and regrouping 12 academic and 3 non-academic European organisations in the continuum of basic, translational and clinical research on enhancers and associated diseases.

Most of what we now know about mutations that cause Mendelian disease has focused on the analysis of mutations that disrupt protein-coding gene. The successful applicant will develop a project to understand why mutations in some transcriptional enhancers cause human disease. It will focus on human mutations pancreatic beta cell enhancers that cause diabetes. The project will use genome editing tools in stem-cells that are then differentiated to beta cells,. It will also deploy tools that model enhancer activity and mutations in episomal contexts. The project will provide opportunities for learning to analyze large scale sequencing datasets from these experiments. For applicants who already have a background in programming and statistics, it is possible to apply for a PhD project that is full or largely based on computational genomic analysis of high-throughput datasets, including single cell genomics, also focused on understanding enhancer mutations in disease.

The host lab is located in The Centre for Genomic Regulation (CRG), an international biomedical research institute of excellence, based in Barcelona, Spain, with more than 400 scientists from 44 countries. The CRG is composed by an interdisciplinary, motivated and creative scientific team which is supported both by a flexible and efficient administration and by high-end and innovative technologies. The host lab aims to understand the basis of gene regulation in pancreatic beta cells, and to deploy this knowledge to discover genetic causes and treatments for human diabetes. It is a multidisciplinary team that currently includes 4 computational scientists with varied interests (human genetics, genetics of gene regulation, regulatory genomics) and 6 experimental scientists, some of which carry out experimental and computational work.

Relevant published work from the team can be found in https://www.crg.eu/es/programmes-groups/ferrer-lab#block-block-2 . The lab has led studies that used regulatory maps in pancreatic islets to show how genetic regulatory DNA variants influence type 2 diabetes (Gaulton et al, Nature Genetics 2010, Pasquali et al, Nature Genetics 2014, Miguel Escalada et al, Nature Genetics 2019), built maps of the developing pancreas that helped uncover disease mutations and mechanisms of development (Cebola Nat Cell Biol 2015, Weedon et al Nature Genetics 2014), and characterized noncoding RNAs and their possible role in diabetes (Moran et al, Cell Metab 2012, Akerman et al Cell Metab 2017, Beucher et al, Biorxiv, 2021).

The team is funded by, and forms part of, international consortia such as ESPACE, an EU-funded Human Cell Atlas project to define single cell genomic profiles of pancreatic cells, or ENPATHY, the training network that funds this position.