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UNIVERSITÀ DEGLI STUDI DI SIENADipartimento di Biotecnologie, Chimica e Farmacia
ALKAPTONURIA DATA ANALYSIS
Dr. ssa Ottavia SpigaStudent: Vittoria Cicaloni
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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
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DATA:
DNA (mutations)
Autosomal recessive desease
Common mutations
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Biological Structure
DNA variations
HGD protein changes
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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
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GENOTYPE
HGD PROTEINUNABLE TO FUNCTION
FENOTYPE
HGDGene mutations Alkaptonuria disease
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Blood and urine data analysis
AKU inflammation
Toxic metabolites and inflammation targets
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Life-style information
Age Gender BMI Daily habits Concomitant deseases Drugs taken Surgery operations
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PURPOSES:
FIND A WAY TO ANALYZE DATA
DISCOVER INTERCONNECTIONS
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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/
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Precision Medicine Initiative
refers to the tailoring of medical treatment to the individual features of
each patient
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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