DFSSN

Dipartimento di
Farmacia e Scienze della Salute e della Nutrizione
Dipartimento di Eccellenza L. 232/2016

  • Dipartimento di Farmacia e Scienze della Salute e della Nutrizione

 

 

Prof Francesca Luisa CONFORTI

 

education

2014-2020: National Scientific Qualification as Associate Professor in Medical Genetics (06/A1) SSD MED/03;

1997: Residency in Clinical Pathology – University “La Sapienza”, Rome (70/70 cum laude);

1993-1995: Two-year CNR fellowship in Genetics at the Institute of Experimental Medicine and Biotechnology (IMSEB), Cosenza;

1991: Bachelor Degree in Biological Sciences - University “La Sapienza”, Rome (110/110 cum laude).

Research and Professional Experience

2019 to present: Associate Professor in Medical Genetics (06/A1) SSD MED/03, DFSSN, University of Calabria;

2002-2018: permanent full-time position as CNR Researcher, Medical Genetics section, at the Institute of Neurological Sciences (ISN), CNR, Mangone (Cosenza);

2001-2018      responsible for the molecular study of neurodegenerative diseases such as Amyotrophic Lateral Sclerosis, Rett syndrome at the ISN, CNR, Mangone (Cosenza);

1998-2001      permanent position as CNR Technician, Physiopathology section, at the Institute of Experimental Medicine and Biotechnology (IMSEB), Cosenza;

02/01/1998 - 31/08/1998        Scientific collaboration at the IMSB, CNR, Mangone (Cosenza);;

15/02/1996-14/02/1997 Scientific collaboration at the Department of Clinical and Experimental Medicine, Faculty of Medicine, University Magna Graecia, Catanzaro.

 Research Activity

 

Since 1996 the main research interests concern the study of the molecular basis of neurodegenerative involving:

Genetic-molecular aspects and phenotypic characteristics of dominant and recessive cerebellar ataxias;

Study of spinocerebellar ataxias and hereditary spastic paraparesis in Italy;

HD gene mutations for Huntington disease and pathological phenotype features;

Genetic-molecular characterization of hemophilia A in Calabrian subjects;

Molecular genetics study in families with autosomal dominant epilepsies;

Genetics studies in hereditary neuropathies with focal myelin; Molecular genetics of Charchot-Marie-Tooth disease; Genotype-phenotype correlations in type I demyelinating hereditary neuropathies; Linkage study in type 2 dominant hereditary neuropathies (CMT2) and recessive demyelinating hereditary neuropathies (CMT4B);

Genetic study and genotype-phenotype correlations in spinal muscular atrophies;

Molecular genetics of CADASIL. Genetic-molecular analysis of the Notch3 gene in families affected by CADASIL.

Application of human motor neurons derived from iPSC for the development of personalized treatments for patients with ALS.

More recently, the main research interests include studies as:

A multidisciplinary diagnostic approach for neurodegenerative diseases of aging;

Screening mutations in the genes involved in the pathogenesis of amyotrophic lateral sclerosis;

A system biology approach in neurodegenerative disease.

Publications

ResearcherID: K-8877-2016

ORCID ID  http://orcid.org/0000-0001-8364-1783

Scopus AuthorID=7003706940

Teaching Activity

 

2019-2020: Medical Genetics, Inter-University Degree in collaboration with the University "Magna Graecia" of Catanzaro, Course in Healthcare Assistance, Preventive and Social Medical Pediatrics, University of Calabria;

2019-2020: Medical Genetics, Residency in Clinical Pathology and Clinical Biochemistry, DFSSN, University of Calabria;

2018-2019: Medical Genetics, Residency in Clinical Pathology and Clinical Biochemistry, DFSSN, University of Calabria;

2009-2010: Systematic Human Biochemistry I, Degree in Pharmacy, DFSSN, University of Calabria;

2009-2010: Systematic Human Biochemistry II, Degree in Pharmacy, DFSSN, University of Calabria;

2008-2009: Systematic Human Biochemistry I, Degree in Pharmacy, DFSSN, University of Calabria;

2008-2009: Systematic Human Biochemistry II, Degree in Pharmacy, DFSSN, University of Calabria;

2007-2008: Biochemistry, Degree in Pharmacy, DFSSN, University of Calabria;

2006-2007: Biochemistry, Degree in Environmental Toxicology, degree in Nutritional Science, DFSSN, University of Calabria;

1997-1998: Biochemistry Tutor, Biochemistry course, Degree in Medicine, University Magna Graecia, Catanzaro;

1996-1997: Biochemistry Tutor, Biochemistry course, Degree in Medicine, University Magna Graecia, Catanzaro.

Teaching Unit

Medical Genetics – Medical Genetics course Link:

27007219 GENETICA MEDICA -   

https://www.unical.it/portale/portaltemplates/view/view_scheda_insegnamento.cfm?71277&LANG=ITA&71277&LANG=ITA

27007607 GENOMICS AND PROTEOMICS - https://www.unical.it/portale/portaltemplates/view/view_scheda_insegnamento.cfm?73145&LANG=ITA&73145&LANG=ITA