Annalisa Santucci
Full Professor of Biochemistry
Chair of the Department of Biotechnology Chemistry and Pharmacy
Director of the Tuscany Region Pegaso PhD School in Biochemistry and Molecular Biology
Founder and President of the Scientific Committee of aimAKU (Associazione Italiana Malati di Alcaptonuria)
Member of the Advisory Board of FindAKUre network
Expertise: Post-genomic approaches for the study of molecular mechanisms of physiopathology of metabolic, rheumatic and rare diseases.
Grants obtained for Alkaptonuria research:
- FMPS – Identificazione e analisi preclinica di molecole terapeutiche per il trattamento dell’alcaptonuria e costituzione di un’associazione di pazienti
- TLS Orphan_01: Studio proteomico e clinico della fisiopatologia dell’alcaptonuria ed allestimento di una terapia per il trattamento dell’ocronosi
- TELETHON_grant GGP10058: Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy
- FP7-HEALTH-2012-INNOVATION-1 (end 2019) – Clinical Development of Nitisinone for Alkaptonuria
Neri Niccolai
Full professor of Biochemistry at the University of Siena, he has been postdoctoral fellow at the Department of Biochemistry of the University of Wisconsin at Madison (1977-1979) and visiting professor at the School of Pharmacy of the University of London (1985-1986). As NMR spectroscopist he oriented his research mainly to delineate mechanisms of protein surface accessibility. The gold medal received from SCI-GIRM and GIDRM in 2014 confirmed the high level of his investigations. More recently, his research field moved towards Structural Bioinformatics, achieving many original results ranging from the analysis of protein-DNA modes of interaction, to a possible interpretation of the rationale behind the standard genetic code redundancy. Author of more than hundred papers on qualified international journals, he has been invited as a speaker at many national and international Conferences.
Sylvia Sestini
Born in Siena and current resident of Siena, retired biochemistry professor at the University of Siena, Faculty of Medicine, with experience in metabolism research. Active in the field of volunteering with young people since adolescence. Founder and president of aimAKU, Associazione Italiana Malati di Alcaptonuria. Member of the Rare Disease Tuscany Forum and of the Siena Hospital’s Participation Committee. In contact with presidents of the other European Associations of AKU patients, participating each year in “Workshops on AKU”, the European meeting of medical experts and patient organizations.
Giulia Bernardini
Dr. Giulia Bernardini is a Assistant Professor in Biochemistry at the Department of Biotechnology, Chemistry and Pharmacy, of Siena University. GB’s scientific background is primarily in biochemistry, with a focus on post-genomics and differential protein expression analysis. Her research interests embrace a wide array of scientific topics ranging from proteomics and immunoproteomics of pathogen microorganisms, to proteomics and immunoproteomics of human samples with regard to different pathologies in particular bone metabolic and osteoarticular diseases. Her research is mainly focused in elucidating the molecular basis of diseases such as osteosarcoma and alkaptonuria, and developing novel therapeutic approaches. Author of 60 papers on international peer−reviewed scientific journals, and inventor of 2 patents.
Ottavia Spiga
Dr. S
piga, Researcher at Biotechnology Chemistry and Pharmacology Department, obtained her Bachelor’s degree in Biology and received her PhD degree in Biotechnology from University of Siena in 2002. Dr. Spiga has published her work in many renowned journals in the field of Structural and Molecular Biology and Computational Biology. Her strong interest in molecular modelling and computational docking analysis led her to participate in many research projects globally. Reasearch of interest: NMR structure determination of biological macromolecules,protein surface accessibility investigated with paramagnetic probes and hydration NMR techniques andcomputer aided molecular modeling and docking.
Andrea Bernini
Dr. Andrea Bernini graduated in Chemistry in 1997 and got his PhD in Biotechnology in 2001. The PhD training took place at the University of Siena and at the Oxford Centre for Molecular Science, Oxford University, UK, where the author got trained in multidimensional/multinuclear NMR of biological macromolecules. The author is currently in charge of the NMR & Structural Biology Lab of the University of Siena.
Andrea Bernini authored more than 60 papers on international peer−reviewed scientific journals; he is Associate Editor for BMC Structural Biology and is reviewer for several journals in the fields of biochemistry and NMR and for proposals for international granting agencies. The scientific background is primarily in structural biochemistry by means of Nuclear Magnetic Resonance and computational methods, with focus on targeted and untargeted metabolomics, hot-spot mapping of biological macromolecules surface, rational design of protein-protein interface disruptors and molecular core determination.
Daniela Braconi
Dr. Daniela Braconi is a Research Assistant at the Department of Biotechnology, Chemistry and Pharmacy of Siena University, where she graduated in Pharmacy in 2003 and received her Ph.D. degree (“Doctor Europaeus” label) in Medical Biotechnology in 2008. Her scientific background is primarily in biochemistry, with several proteomic and immunoproteomic studies related to microorganisms and human diseases, paying particular attention to oxidative post-translational modifications of proteins. In the last years, she focused on the elucidation of molecular mechanisms underlying the rare disease alkaptonuria and she became actively involved in the DevelopAKUre EU-funded project for the analysis of oxidative and inflammatory biomarkers in alkaptonuria. She is author of 54 papers in international peer-reviewed scientific journals.
Lia Millucci
Dr. Lia Millucci is Assistant Researcher at Biotechnology Chemistry and Pharmacology Department (author of 35 papers on international peer−reviewed scientific journals). She obtained her PhD degree in in Biochemistry and Microbiology from University of Siena in 2006. She developed interest in protein folding, in particular amyloid aggregation. Dr. Millucci is actually engaged in the field of proteomic characterization of the physiology of Alkaptonuria and in the development of models of Alkaptonuria for the analysis of new drugs and experimental models for Osteoarthrosis, including research studies on cartilage, synovia and bone damage associated to inflammation and oxidative stress. Moreover, she is working on Beerbone, a project aimed at researching the effects of silicon in Val d’Orcia beer on the treatment of osteoporosis and osteoarthritis as seen in human osteoarticular cell samples. Using a global foodomics approach, the final goal is to determine the most accurate dosage of silicic acid for the creation of a beer targeted for the prevention of bone diseases. Finally, she is working on the evaluation of potential applications for chestnut (Castanesativa) shell extracts and other natural products.
Marcella Laschi
Dr. Marcella Laschi is a Research Assistant at the Department of Biotechnology, Chemistry and Pharmacy of Siena University. She graduated in Pharmacy in 2007 and received her Ph.D. degree in Medical Biotechnology in 2012. Her scientific background is principally in biochemistry, focusing on proteomics and immunoproteomics of pathogen microorganisms, of human cells and tissues, together with the study of post-translational modifications of proteins. Her research projects focused on the study of two rare human pathologies affecting the osteoarticular compartment, osteosarcoma and alkaptonuria, with particular attention to the isolation and characterization of human osteosarcoma primary cell cultures and to the development of novel therapeutic strategies for the treatment of both diseases. She is author of 21 papers in international peer-reviewed scientific journals and inventor of 1 patent.
Luana Peruzzi
Dr Luana Peruzzi is graduated in Biological Sciences and Specialist in Biochemistry. From 1998 to 2007 working experience in neonatal screening and paediatric endocrinology with collaboration in an European Project for purines and pyrimidines disorders. From 2008 to today working experience in infantile/late onset genetic metabolic disorders (biochemical and molecular study) and collaboration in AKU studios with characterizzation of biochemical inflammatory markers and molecular patterns in AKU patients. Actually works at Biotechnology Chemistry and Pharmacology Department of Siena University and at Molecular Medicine and Genetic UOC of Policlinco Le Scotte, Siena
Vittoria Cicaloni
Graduated in Pharmaceutical Chemistry and Technologies in 2016 and is currently PhD student in Biochemistry and Molecular Biology at the Biotechnology, Chemistry and Pharmacy Dept. of the University of Siena. Her master degree thesis as well as her PhD project is focused on the application of a Precision Medicine approach to the rare disease Alkaptonuria through the development of an integrated and interactive database for the search of stratification biomarkers. She is the author of the poster presentation “Towards an integrated interactive database for the search of stratification biomarkers in Alkaptonuria” presented at the 13th Annual Meeting of the Bioinformatics Italian Society, 15-17 June 2016, University of Salerno, Italy. She was invited speaker at the annual meeting of the regional section of the Bionformatics Italian Society (BITS) introducing the talk “Towards an integrated interactive database for the search of stratification biomarkers in Alkaptonuria”. She is the main contributor to the article “ApreciseKUre: an approach of Precision Medicine in a Rare Disease” recently published in BMC Medical Informatics and Decision Making.
Silvia Galderisi
Graduated in Pharmaceutical Chemistry and Technologies in 2016 and is currently PhD student in Biochemistry and Molecular Biology at the Biotechnology, Chemistry and Pharmacy Dept. of the University of Siena. Her master degree thesis as well as the PhD project is focused on the development of pharmacological chaperones for the stabilization of enzyme variants at the basis of the genetic disease Alkaptonuria by means of molecular modelling, molecular dynamics and docking simulation. She is trained in many bioinformatics and computational biology tools for protein sequence analysis and molecular dynamics simulations, as well as in human cell cultures and protein expression. She was invited speaker at the annual meeting of the regional section of the Bionformatics Italian Society (BITS) introducing the talk “Binding site discovery and virtual drug repositioning for pharmacological chaperones targeting homogentisate 1,2-dioxygenase for the treatment of the inborn error of metabolism disorder Alkaptonuria”. She is first author of the manuscript “Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria”, recently submitted to Journal of Chemical Information and Modeling.
Mariagiulia Minetti
PhD student in Biochemistry and Molecular Biology (XXXII cycle). Pharmaceutical Chemistry and Technology Degree.