Dr. Francesca Amati
Grants and projects
From 1997 to date: TELETHON; PRIN; FIRB; RICERCA FINALIZZATA MINISTERO DELLA SALUTE; Regione Lazio - FILAS-Bioscienze e Biotecnologie Rosse per la farmaceutica; FONDAZIONE ROMA. NON COMMUNICABLE DISEASES (NCDs); Bando Ateneo "Consolidate Foundations"; National Ataxia Foundation; AFAF (Association Française de l’Ataxie de Friedreich).
Medical Genetics Modules in Degree Courses in Medicine and Surgery, in Nursing, in Obstetric Nursing, in Medicine and Surgery (Catholic University “Our Lady of Good Counsel”, Tirana, Albania), in Human Nutrition and Food Science (University San Raffaele, Rome, Italy) for a total of 12.5 ECTS Credits (more than 250 students and 21 exam sessions/year).
- to understand the molecular basis of human microdeletion syndromes, in particular DiGeorge syndrome (OMIM#188400), velocardiofacial syndrome (OMIM #192430) and Williams syndrome (OMIM #194050).
- to develop innovative diagnostic protocols by means Next-generation Sequencing (NGS) for the diagnosis of inherited cardiac diseases (Brugada and LQT syndromes)
- to analyze gene expression pathways and alternative splicing in animal and cell models of cardiovascular disease by using microarrays, qRT-PCr and RNAseq.
- to study epigenetic mechanisms (miRNA and DNA methylation) in cardiovascular diseases.
60 papers in peer-reviewed international scientific journal journals and books, >1867 citations, H-index: 20 (ORCID ID 0000-0003-2209-2156)
Member of AIGM (Associazione Italiana Genetica Medica) from 1994 to 1997 and of SIGU (Italian Society of Human Genetics) from 1997 until now.
Member of the “Molecular Genetics” Working Group of SIGU from 2014.
Scientific member of Advisory Board of NIG- Network for Italian Genomes from 2017 to 2020.