UNIVERSITÀ DEGLI STUDI DI SIENADipartimento di Biotecnologie, Chimica e Farmacia
ALKAPTONURIA DATA ANALYSIS
Dr. ssa Ottavia SpigaStudent: Vittoria Cicaloni
Knowledge Network
Of AKU
Genomics:http://hgddatabase.cvtisr.sk/home.php
Sign and simptoms: http://www.akusociety.org/
Behaviors: http://www.alcap.fr/
Clinical tests: Nitisinone clinical trialhttp://www.developakure.eu/
Patients data: http://www.aimaku.it/http://www.dsaku.de/http://www.akussac.sk/
Structural Biology: http://wwwcryst.bioc.cam.ac.uk/groups/blundell#bioinf
ApreciseKUre
DATA:
DNA (mutations)
Autosomal recessive desease
Common mutations
Biological Structure
DNA variations
HGD protein changes
Structure characterization of missense mutations
- Core
- Active site
- Accessible solvent surface
- Protomer Interface
ProCoCoA (Protein Core Composition
Analyzer)http://
www.sbl.unisi.it/prococoa/
MOLE 2.0Rapid and fully
automated location and
characterization of pores
http://mole.upol.cz/
PyMOLSurfaceres
MD Trajectory
GENOTYPE
HGD PROTEINUNABLE TO FUNCTION
FENOTYPE
HGDGene mutations Alkaptonuria disease
Blood and urine data analysis
AKU inflammation
Toxic metabolites and inflammation targets
Life-style information
Age Gender BMI Daily habits Concomitant deseases Drugs taken Surgery operations
PURPOSES:
FIND A WAY TO ANALYZE DATA
DISCOVER INTERCONNECTIONS
MACHINE LEARNING ALGORITHMS AND TOPOLOGICAL DATA ANALYSIS
Machine learning is a collection of techniques for understanding data, including methods
for visualization, prediction, classification and other tasks relevant to data analysis.
For example: www.ayasdi.com/company/events/machine-learning-algorithms/
Precision Medicine Initiative
refers to the tailoring of medical treatment to the individual features of
each patient
ACKNOWLEDGEMENTS
Structural Biology LaboratoryProf. re Neri Niccolai and Dr. Andrea Bernini
Prof. ssa Annalisa SantucciDott. ssa Andrea ZatkovaStudent Vittoria Cicaloni
THANK YOU FOR YOUR ATTENTION