Agenda PhD defense Riccardo Sangermano


Riccardo Sangermano Unraveling the "dark matter" in ABCA4-associated diseases

ABCA4 is the most frequently mutated inherited blindness gene, showing its effect when
mutations are found on both copies of our DNA. Interestingly, ~25% of patients carry only one
mutation in the ABCA4 coding elements (i.e., the exons). We suspected that missing causal
variants may be located in the non-coding non-sequenced elements (i.e., the introns), or being
known variants with unknown function. By sequencing exons and introns of ABCA4 in our
patients, we identified deletions, rare intronic variants, and one frequent exonic variant enriched
in patients compared to healthy individuals. We characterized all intronic variants predicted to
lead to splice defects (i.e., the correct fusion of the exons) using a splice assay that we have set up
and, wherever possible, patient-derived fibroblasts and photoreceptor precursor cells. In this way,
we detected the second causal missing variant in 76% of our patients. Finally, the proper
understanding of the pathogenic mechanisms underlying novel intronic variants enabled us to
successfully apply therapeutic approaches aiming to restore correct splicing, ultimately providing
new avenues for treatment in blind patients.
 

Date, time and location PhD defense Riccardo Sangermano

  • Date: 28 June 2018
  • Time: 10:30 hrs
  • Location: Radboud Universiteit, Academiezaal Aula, Comeniuslaan 2

Biography

Riccardo Sangermano (1987), graduated with honors in 2012 from the University of Naples Federico II (Masters' degree in Medical Biotechnology).

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Biography

Riccardo Sangermano (1987), graduated with honors in 2012 from the University of Naples
Federico II (Masters' degree in Medical Biotechnology). From 2009 to 2013, he achieved an
intense and multidisciplinary 4-year training, first as university student and later as undergraduate
fellow, at Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy. In 2013, Riccardo
was selected for a Marie Curie Initial Training Network PhD position in Ophthalmogenetics (Eye-
TN) and he moved in Nijmegen, The Netherlands. The research in this thesis was performed at the
department of Human Genetics of Radboud University Medical Center.


Promotor

  • Promotor(s): Prof. Frans P.M. Cremers
  • Co-promotor(s): Rob W.J. Collin PhD and Silvia Albert, PhD

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