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2014/2015 Medium-term fellowship report

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by Virginia Gulino

Thanks to the fellowship, I had the opportunity to focus on the study of  some aspects of the epigenetic regulation of the immune system, which represents a whole new and exciting field of investigation.

I spent part of the fellowship in Brescia, at the Molecular Medicine Institute “A. Nocivelli” led by Prof. Silvia Giliani, introducing the topic of my project (the evaluation of B cell function in patients with Kabuki Syndrome 1 (KS1)) to the lab team. We had a very interesting exchange on how to conduct our study and set up the methods. I also met Dr Alba Pilotta, who is the clinical geneticist in charge for the diagnosis and follow up of patients with KS. I could analyse her patients’ clinical data (a total of 7 patients) and involved her in the enrollment of three KS1 patients. While there, I was very lucky and attended a great magistral lecture on Interferonopathies, held by Yanick Crow.

In Florence, at Meyer Children Hospital, I evaluated 27 clinical dossiers and selected 13 patients with molecularly confirmed KS1 diagnosis. Together with Dr Elisabetta Lapi, a very experienced clinical geneticist at Meyer Hospital, with Dr Stefano Stagi, pediatric endocrinologist and researcher at Univeristy of Florence, and with Donato Rigante, pediatric rheumatologist at Gemelli Foundation in Rome, we wrote a review paper, which has been recently published [ Epigenetic control of the immune system: a lesson from Kabuki syndrome.Immunol Res. 2015 Sep 28]

Moreover, an abstract containing the preliminary results of our research, was selected as Oral communication at the national meeting of SIGU (the Italian Society of Human Genetics) on October 23th. I was also invited by prof Sabrina Giglio, head of the Medical Genetics of University in Florence, to held a seminar on “the Immunological features of Kabuki Syndrome” for clinical geneticists, biologists, and university students on November 5th.

I am very grateful to the ESID for this support and I am sure I will be able to fulfill this and future research projects, thus giving my little contribute to the field of primary immune deficiencies.


2015 kabuki

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