Research Line

Promoting the health and quality of life of the mother-infant dyad, parenting, and gender medicine /
Medical Genetics

Head

Federica Natacci

Unit

Medical Genetics

Research activity CLOSEREAD

Study of the natural history of Neurofibromatosis type 1, by retrospective and prospective collection of clinical data in patients with neurofibromatosis type 1 for better definition of oncological comorbidities; genotype-phenotype correlation and study of
Study of the natural history of achondroplasia by retrospective and prospective collection of clinical data in patients with achondroplasia pre- and post-introduction of innovative drug therapy
Study of the natural history of rare and ultrarare syndromic conditions, by retrospective collection of clinical data in cohorts of adult patients with known genetic syndromes
Correlation of family, clinical and genetic data in prenatal diagnosis
Clinical and molecular characterization of novel disease genes and genetically determined conditions

Collaborations CLOSEREAD

The Medical Genetics team is part of the GENTURIS ERN, ITHACA and BOND and collaborates with several associations of families with genetically determined conditions