11th International Workshop on Alkaptonuria (AKU)

30 Gennaio 2019 09:30 - 17:00
Dipartimento di Biotecnologie, Via Aldo Moro, 2 (stanza 4, 1° piano) - Via Aldo Moro, 2, 53100 Siena SI

11th International Workshop on Alkaptonuria (AKU)
Università di Siena, Dipartimento di Biotecnologie,
Via Aldo Moro, 2 (stanza 4, 1° piano)

 Participation is free; please register at this link https://goo.gl/forms/M6EJSjYnOzEEnqch2


Provisional programme

9:30 Welcome message from Prof. Francesco Frati, Rector, and Prof. Annalisa Santucci, Head of Dept.
Biotechnology, Chemistry and Pharmacy – Dept. of Excellence 2018-2022
9:40 Welcome message from Dr. Valtere Giovannini (General Director of Siena University Hospital, Regional
Center for Precision Medicine), and Prof. Antonio Federico (HCP Representative for MetabERN, Corporate
and Regional Coordinator for Rare Diseases, Siena University Hospital)
9:50 Dr. Andrea Paolini (Toscana Life Sciences) and Dr. Andrea Frosini (UVaR, Regione Toscana)
Regional policy on rare diseases & Precision Medicine
Session 1:AKU – Italian medical framework
Chair: Prof. Frediani
10:00 Dr. Marco Bardelli
(Siena University Hospital, Italy)
PDTA (Percorso Diagnostico Terapeutico Assistenziale for AKU) Guidelines for the diagnosis and clinical management of AKU
10:15 Dr. Dario Gambera
(Rugani Hospital, Siena, Italy)
Orthopaedic surgical interventions in AKU patients
10:30 Dr. Giuseppe Greco
(Rugani Hospital, Siena, Italy)
Morphological studies on ex-vivo cultured AKU human anterior lens epithelial cells
10:45 Dr. Albina Tummolo
(Bari Hospital)
Experience with AKU patients at Bari Hospital (provisional title)
11:00 Coffee break
Session 2: AKU – International medical framework
Chair: Prof. Ranganath
11:30 Dr. Wendy Introne
Alkaptonuria in the United States
11:45 Hollie Washington
(RLBUH Liverpool, UK)
UK National Alkaptonuria Centre and logistics
12:00 Dr. Jean-Baptiste Arnoux & Dr. Kim-Hanh
Le Quan Sang
(Necker Hospital, France)
Different experiences about Nitisinone treatment for AKU in French Metabolite Reference Center



12:15 Dr. Mariusz Kujawa
(Medical University of Gdansk, Poland)
Care for paediatric patients with alkaptonuria
12:30 Prof. Maurizio Scarpa, Prof. Sylvia Sestini
MetabERN - European Reference Networks for hereditary
metabolic disorders
Light lunch
Session 3: AKU imaging
Chair: Prof. Gallagher
14:00 Dr. Leah Taylor
(RLBUH Liverpool, UK)
Assessment of AKU using quantitative image analysis
14:15 Dr. Alpesh Mistry
(RLBUH Liverpool, UK)
Interesting MRI findings in AKU and challenges in
14:30 Prof. Jim Gallagher
(University of Liverpool, UK)
Joint destruction in AKU
14:45 Prof. Gabor Barton (Liverpool John Moore
University, UK)
Gait analysis in AKU
(provisional title)
Session 4: Novel insights on AKU molecular mechanisms and therapeutics
Chair: Prof. Santucci
15:00 Dr. Andrea Zatkova
(Slovak Academy of Sciences, Slovakia)
What does SONIA2 tell us about genetics of AKU
15:15 Dr. Anna Milan
(RLBUH Liverpool, UK)
The metabolic consequences of Nitisinone
15:30 Dr. Daniela Braconi and Dr. Lia Millucci
(University of Siena, Italy)
Molecular mechanisms of AKU physiopathology
15:45 Dr. Elena Petricci
(University of Siena, Italy)
Novel insights on HGA chemical transformation and Rational
drug design and synthesis of novel HPPD inhibitors
16:00 Dr. Alfonso Trezza
(University of Siena, Italy)
Prediction of residence time of novel HPPD inhibitors
16:15 Dr. Andrea Bernini
(University of Siena, Italy)
In silico studies of refolding chaperones for HGD
Session 5: Concluding remarks & future perspectives
Chairs: Prof. Santucci and Prof. Gallagher
16:30 Dr. Vittoria Cicaloni
(University of Siena, Italy)
An AKU dedicated digital integrated ecosystem
16:45 General discussion and conclusions, Prof. Santucci and Prof. Gallagher

A parallel AKU patient meeting will run after lunch in room 13 (ground floor)


Altre date

  • 30 Gennaio 2019 09:30 - 17:00

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