Annalisa Santucci’ research group and Alkaptonuria
Annalisa Santucci is founder and President of the Scientific Commitee of aimAKU (Associazione Italiana Malati di Alkaptonuria). She is a collaborator with the following associations of AKU patients: AKU Society (UK), ALCAP (France), AKU Society North America (USA and Canada), DSAKU (Germany). She is member of the Advisory Board of international network FindAKUre (www.findakure.org), entirely devoted to the study of AKU and including also UK (Liverpool, Cambridge Universities), USA (NIH), Slovakia (Slovak Academy of Sciences), Jordan (Mutah University).
The research group is at the moment the only team in the world studying AKU at the molecular level. She has been organizer and member of the Scientific Commitee of the following meetings on AKU: – 3rd International Workshop on AKU, Siena 27 ottobre 2009 – 4th International Workshop on AKU, Cambridge, UK, 2011 – 5th International Workshop on AKU, Liverpool, UK, 2011 – 6th International Workshop on AKU, Piestany, Slovakia, 2013 – Conferenza dei Presidi Regione Toscana – “Centralità della Toscana nella ricerca mondiale su una malattia ultra-rara: l’alcaptonuria”, Firenze 3 ottobre 2013 she has gained the following grants for AKU research:
Toscana Life Sciences Foundation – TLS Orphan_01 – Studio proteomico e clinico della fisiopatologia dell’alcaptonuria ed allestimento di una terapia per il trattamento dell’ocronosi.
Fondazione MPS 2009-2010 – Studio proteomico e clinico della fisiopatologia dell’alcaptonuria e creazione di un’associazione di pazienti Fondazione MPS 2011- Identificazione e analisi preclinica di molecole terapeutiche per il trattamento dell’alcaptonuria.
TELETHON − grant GGP10058 – Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy FP7-HEALTH-2012-INNOVATION-1 – Clinical Development of Nitisinone for Alkaptonuria (Participants: Royal Liverpool University Hospital Trust UK; University of Liverpool, UK; National Institute of Rheumatic Diseases, Slovakia; Assistance Publique Hopitaux de Paris, F; PSR Group BV, NL; Cudos BV, NL; Nordic Bioscience A/S, Denmark; University of Siena, Italy; Alkaptonuria Society Ltd, UK; Swedish Orphan Biovitrum International AB, Sweden; Institute of Molecular Physiology and Genetics, Slovakia; ALCAP, F; Institut Necker, Paris, F).
She has been the Coordinator of 10 Erasmus international ex-changes of students and scientific personnel between Siena University and Liverpool, Cambridge (UK) and Nijmegen (NL) Universities for specific studies on AKU.