Wissinger Lab

Molecular Genetics Laboratory

Home » Labs » Wissinger Lab » Members » Pietro De Angeli

Pietro De Angeli

Surname De Angeli
First name Pietro
Position and Title PhD student
Project tba

Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Phone: +49 (0)7071 29-80931

E-mail: Pietro.De-Angeli[at]med.uni-tuebingen.de.

Research background and scientific interests

My research background is on molecular biology and genome engineering. Over my bachelor’s and part of my master’s studies, I contributed to the development of an innovative protocol for the treatment of a rare genetic metabolic disease, Guanidinoacetate methyltransferase deficiency. The final purpose was to validate a scalable enzyme-replacement-therapy-based protocol to administered recombinant enzymes via a patented delivery device to patients affected by the aforementioned autosomal recessive disorder. During my Master thesis, I then spent six months at the Sanger Institute (UK), in Leopold Part’s team, as a visiting worker where I collaborated to genome editing projects that involved CRISPR-Cas9 high-throughput screenings.

My current scientific interest is focused on combining my draw for genetic diseases with my hands-on expertise in genome engineering and molecular biology.

Project descriptions

Stargardt disease is an autosomal recessive genetic disorder caused by biallelic mutations in the ABCA4 gene. The disease typically leads to vision loss during childhood or adolescence - juvenile macular dystrophy. To date, more than 1000 different mutations have been classified as pathogenic. Nevertheless, in a number of cases only monoallelic or no mutations have been identified. In order to unravel the missing heritability, intronic sequences have been studied allowing the characterization of several pathologic deep-intronic variants which determine defects in mRNA splicing (either by pseudoexon formation or exon skipping).

The aim of my PhD project is to implement CRISPR-Cas9 approaches to rescue such splicing events, further investigating the possibility of harnessing the genome editing potential as a promising technology for the treatment of genetic conditions. Deep-intronic variants, that are more frequent in German population -including c. 4253+43G>A and c. 5197-557G>T- will be first targeted.

Publications

  1. Allen F, Crepaldi L, Alsinet C, Strong AJ, Kleshchevnikov V, De Angeli P, Páleníková P, Khodak A, Kiselev V, Kosicki M, Bassett AR, Harding H, Galanty Y, Muñoz-Martínez F, Metzakopian E, Jackson SP, Parts L. Predicting the mutations generated by repair of Cas9-induced double-strand breaks. Nat Biotechnol. 2018 Nov 27. doi: 10.1038/nbt.4317.