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