Alkaptonuria data analysis - Dr. Andrea Zatkova, Vittoria Cicaloni

UNIVERSITÀ DEGLI STUDI DI SIENA
Dipartimento di Biotecnologie, Chimica e Farmacia
ALKAPTONURIA DATA ANALYSIS
Dr. ssa Ottavia Spiga
Student: Vittoria Cicaloni
ApreciseKUre
Sign and simptoms:
http://www.akusociety.org/
Genomics:
http://hgddatabase.cvtisr.sk/home.php
Behaviors:
http://www.alcap.fr/
Patients data:
http://www.aimaku.it/
http://www.dsaku.de/
http://www.akussac.sk/
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Structural Biology:
http://wwwcryst.bioc.cam.ac.uk/gro
ups/blundell#bioinf
Clinical tests: Nitisinone clinical
trial
http://www.developakure.eu/
A
K
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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
MOLE
2.0
PyMOL
Core
Composition
Rapid and fully
Surfaceres
Analyzer)
automated
location
http://www.sbl.unis
and characterization
MD
i.it/prococoa/
ofTrajectory
pores
http://mole.upol.cz/



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/machinelearning-algorithms/
Structural Biology Laboratory
Prof. re Neri Niccolai and Dr. Andrea Bernini
Prof. ssa Annalisa Santucci
Dott. ssa Andrea Zatkova
Student Vittoria Cicaloni