Dr Marc Zimmermann (Fraunhofer SCAI) on the AETIONOMY project. AETIONOMY is a consortium brought together to tackle the problem of the classification of neuro-degenerative diseases. It is a Big Data Approach: A knowledge base comprising curated, re-annotated and well-organised data Modelling and Mining Workflows suited for the generation of new mechanism-hypotheses with a special focus on early dysregulation events A set of testable hypotheses on disease mechanisms of which a subset has been validated in a clinical study. The clinical study links us to the EPAD project A first version of a mechanism-based taxonomy for AD and PD providing the high level structure for a future taxonomy of neurodegenerative diseases http://www.aetionomy.eu/

1. EU Project Informatics Alignment Workshop
Imperial College London
April 24th-25th
Marc Zimmermann (Fraunhofer SCAI)
Aetionomy

2. What is Aetionomy
• AETIONOMY is a consortium brought together to tackle the problem of the
classification of neuro-degenerative diseases. It is a Big Data Approach:
• A knowledge base comprising curated, re-annotated and well-organised data
• Modelling and Mining Workflows suited for the generation of new mechanism-
hypotheses with a special focus on early dysregulation events
• A set of testable hypotheses on disease mechanisms of which a subset has been
validated in a clinical study. The clinical study links us to the EPAD project
• A first version of a mechanism-based taxonomy for AD and PD providing the high
level structure for a future taxonomy of neurodegenerative diseases
• Funded by: IMI
• Time frames: 5 years (Jan 2014 -- Dec 2019)
• Members:
– EFPIA (4): UCB, Novartis, SARD, BI
– Academic groups (9): Fraunhofer, EMC, UKB, ICM, IDIBAPS, LUH, UCL, UL, KI
– SME (3): Neurad, PhI, AE

3. OpenBEL – based Mechanism-Identification
OpenBEL model-
model comparison
results in the first
mechanism-hypothesis
generated in
AETIONOMY: a
possible involvement
of the NGF-NGFR-
BDNF pathway in early
decision-making of the
neuron on Neuron
Survival vs. Apoptosis.
Kodamullil et al., Alzheimer´s & Dementia, 2015

4. Data types collected by Aetionomy
All information in the AETIONOMY Knowledge Base is publicly available except clinical data,
which will require registration of the user. The knowledge base also contains proprietary
data from AETIONOMY clinical and industrial partners (EFPIA). Besides these domains the
knowledge base offers Literature Mining on 24 million Medline abstracts.
www.aetionomy.org

5. • Organising all relevant data with proper curation and annotation in an
indication-specific data cube
• Construction of disease models that capture and represent available
knowledge and make it amenable for mining purposes
• Development of disease ontologies providing the semantic
framework for proper metadata – annotation of data and supporting
information retrieval and knowledge discovery
• Implementation of these modules in a service-oriented architecture
linking data and knowledge to appropriate data analysis, data
visualisation and knowledge discovery services
Specific needs for Aetionomy
Semantic tranSMART