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06/11/2018 Two PhD Marie Skłodowska-Curie positions

Two PhD Marie Skłodowska-Curie positions

Two PhD positions are available at TIGEM in the research groups of Alberto Auricchio and Sandro Banfi

within the framework of the Marie Skłodowska-Curie Innovative Training Network (ITN) on


“Training researchers to Diagnose, Understand and Treat Stargardt Disease, 

aFrequent Inherited Blinding Disorder”



The objectives of StarT are twofold: 1) to give the next generation of European vision researchers unparalleled opportunities to be trained by a consortium of European vision research groups excelling in genomics, transcriptomics, functional genomics, bio-informatics, genome editing, stem cell biology, animal disease models, and therapy development; and 2) to address the knowledge gaps to diagnosing, understanding and treating STGD1 using innovative approaches related to the aforementioned disciplines.



Projects’ Description


Project 1: Identification of the gene networks that modulate ABCA4 expression

We have recently generated a comprehensive mRNA and microRNA (miRNAs) transcriptome of the human retina and have acquired expertise in co-expression analysis. The appointed Early Stage Researcher (ESR)  will capitalise on these resources to gain insight into the organisation of the ABCA4 transcriptional unit and into the dissection of the gene networks that participate in the modulation of the expression and function of ABCA4 in human retina. ESR will further define the genomic organisation of the ABCA4 gene using our vast RNA-seq dataset to identify and validate the presence of alternative transcript variants. By integrating already available and newly-generated transcriptomics data carried out both in human and in mouse, ESR will reconstruct the transcriptional gene networks that modulate ABCA4 expression in photoreceptors in both physiological and pathological conditions. ESR will pay particular attention to the contribution of miRNAs and will combine target predictions with our data on miRNA expression in the retina to select candidate miRNAs predicted to regulate ABCA4 and validate their biological relevance using in vitro and in vivo assays. 

Supervisor: Prof. S. Banfi (


Project 2:ABCA4 knockout pig as model for gene therapy in STGD1

Abca4-/- knockout mice are currently used as animal models of STGD1, but they recapitulate only some of the features of the disease, which might be due to the structure of the mouse retina, which largely differs from that of humans. The absence of an appropriate animal model severely limits both the understanding of STGD1 mechanisms as well as the testing of novel potential therapeutic strategies. Among non-primate mammals, the porcine eye shares many similarities with the human retina including anatomy, size, and a high cone/rod ratio. In addition, unlike in non-human primates or other large species, pig transgenesis is particularly advanced. ESR will generate a pig model of STGD1, by exploring either nuclear transfer from fibroblasts which have been genetically modified using TALEN technology in embryonic stem cells, or photoreceptor somatic gene transfer of CRISPR/Cas9 with adeno-associated viral vectors. The generation of in vivo models of STGD1 will provide unique tools for both studying the mechanism of STGD1 rod and cone cell death as well as testing new therapies including gene therapy approaches recently developed by us.

Supervisor:Prof. A. Auricchio (


Application Process


Eligibility criteria:

  • Applicants should be in the first 4 years (full-time equivalent) of their research careers, including the period of research training, starting at the date of obtaining the degree which would formally entitle them to embark on a doctorate. 
  • Applicants should not have resided or performed their main activity in Italy for more than 12 months in the 3 year period immediately prior to the start date of the fellowship. 
  • Applicants should not be Italian nationals.


Deadline for application:

December 10, 2018


How to apply:

Applicants should submit 

  • a personal statement explaining their motivation and project interests and the contact details of 2 academic referees
  • a CV (download this format; other formats are NOT accepted)
  • a form indicating the preference for one or more specific partner institute(s) and/or research project(s) (download preference form)

Please send these documents via email to


PLEASE NOTE that applications that do not meet these requirements WILL NOT BE CONSIDERED.



More information

For further information on the application process, please email simone.dusseljee@radboudumc.nlor visit

Information about TIGEM can be found at

For the research at the Auricchio Group, please see:

For the research at the Banfi Group, please see: