Annalisa Santucci
Annalisa Santucci dedicated the last 20 years of her scientific activity to the study of Alkaptonuria, the first genetic disease ever discovered and the prototype of all inborn errors of metabolism. She and her group discovered some of the main molecular features of Alkaptonuria physiopathology working alone and in collaboration with clinical groups both in Italy and abroad, contributing to create a network of excellence including University of Liverpool and Royal Liverpool Hospital, Slovak Academy of Science and Piestany Hospital, Necker Hospital Paris, NIH, and other.
She participated to the clinical trials leading to the EMA approval of nitisinone as the first drug for the treatment of Alkaptonuria, but she also worked on nitisinone functional analogues and other classes of drugs for combined therapies.
She discovered that Alkaptonuria is a secondary amyloidosis and got the EMA orphan drug for methotrexate for its treatment in Alkaptonuria.
Based on her expertise in the field, she has been recently invited to guide a review on Alkaptonuria for Nature Review.
She has been reviewer of numerous papers and research projects on Alkaptonuria.
She organized in Siena, Italy, the Meeting of the International AKU Advisory Board in 2009 and the 11th International Workshop on AKU in 2019.
She won the FEBS Science and Society 2020 award – How the first human genetic disease may show the way forward Precision medicine – The case of the ultra-rare disease Alkaptonuria and ApreciseKUre digital ecosystem. She is the Founder and President of Scientific Committee of aimAKU (Associazione Italiana Pazienti di Alcaptonuria; Associazione Amica di Telethon).
