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DEFESO - Definition of the genetic-molecular bases of diseases through exomic analysis

Project objectives

The main objective is to identify new genes responsible for human pathologies, define their function, if it is not known, evaluate the possibility of developing disease models. Another objective is to provide the family or patient with a diagnosis of the cause.

Start and end date

February 2021 - Ongoing

Project Manager

prof Fiorella Gurrieri Full Professor of Medical Genetics UCBM
- Principal Investigator

Coordinating institution of the project

UCBM

Other Institutions involved

  • Seaver Center for Autism for research and treatment – ​​Mount Sinai
  • Catholic University of the Heart of Rome
  • Duke University (Child Neurology Unit)
  • Department of Genetics in the School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA

Funding source(s).

• Campus Bio-Medical Foundation
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