Onze beursstudenten
Dokter Déborah SALIK
Kwalificaties:
Diplôme Universitaire en dermatoscopie digitale – Université de Lyon 2017
Diplôme en Dermato-vénéréologie - Université Libre de Bruxelles, Belgique (CHU Saint-Pierre, Brugmann, HUDERF, Erasme) 2014
Diplôme de Docteur en médecine, chirurgie et accouchement –Université Libre de Bruxelles, Belgique 2010
Aantal beurzen:
2018-2019 - 2019-2020 | 2020-2021: "Bourse en l'honneur de Sybille de Spoelberch"
Onderzoek in het kort !
Project
Development of a genetic analysis method by mendeliomes and genomes in the diagnosis of genodermatoses and rare genetic diseases with cutaneous expression
Project supervisor
Smits GuillaumeLabo of hospitaal waar het project plaatsvindt
- Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)
- CHU Saint-Pierre
- IB2 - Interuniversity Institute of Bioinformatics in Brussels
- Centre de génétique humaine de l’ULB
Objectives of research
The aim of this work will be to develop the genetic diagnosis of genodermatoses and
pediatric rare diseases with cutaneous expression.
This study will be done in two steps. Initially, a mendeliome (sequencing of approx. 4,000
genes related to rare diseases) will be proposed to all patients in the cohort, making possible
to determine a diagnosis for part of the group. In a second time, cases not explained by
mendeliome will be offered a genome sequencing supplemented by a transcriptome of their
cutaneous cells (fibroblasts).
