ITHANET - Information and Database Portal for the Thalassaemias and other Haemoglobinopathies - Petros Knotouris
1. ITHANET – Information and Database
Portal for the Thalassaemias and Other
Haemoglobinopathies
Petros Kountouris, Ph.D.
The Cyprus Institute of Neurology & Genetics
http://www.ithanet.eu
3. ITHANET Project
(electronic Infrastructure forTHAlassaemia research NETwork)
A network of European and
Euro-Mediterranean
researchers aiming to
strengthen the research in the
field of haemoglobinopathies
with the use of available and
emerging e-Infrastructure
technologies
FP6 project (RI-2004-026539)
2006-2008 (1.2M euros)
16 countries, 26 organisations
ITHANET+ (funded by RPF),
2008-2010
5. The ITHANET Community Portal
Goal:
Develop a daily scientific and diagnostic tool in research
and treatment and a resource for patients, carriers and
all those interested in haemoglobinopathies
7. Latest information
Goal:
Collect and provide to the community the latest
information related to haemoglobinopathies (news,
events, publications, clinical trials)
latest information and other updates are sent to all ITHANET
subscribers through a regular newsletter
8. Latest information
News: press releases, grants/projects, clinical trials
Events: future conferences, meetings, workshops
Publications: weekly updates with the latest publications in
PubMed (currently >3900 articles)
Clinical Trials: clinical trials about thalassaemia and other
haemoglobinopathies, continuously updated from
ClinicalTrials.gov
All tables are searchable
9. ITHANET Portal – Community
Goal:
Provide information about organisations and experts
worldwide working on haemoglobinopathies
16. IthaGenes
An interactive archive of sequence variations affecting
haemoglobin disorders, including the globin gene clusters,
disease modifiers and polymorphisms with relevance for
clinical diagnosis
Kountouris P et al. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology. PLoS ONE 9(7): e103020.
17. IthaGenes – curation
IthaGenes & IthaMaps
OMIM
Weekly PubMed updates
(haemoglobin, thalassaemia, sickle-
cell, haemoglobinopathies)
dbSNP
ClinVarHbVar
Initial IthaGenes list
1. A Syllabus of Human Hemoglobin Variants (1996)
2. A Syllabus of Thalassemia Mutations (1997)
External DBs
External Annotation
New variations,
epidemiology
Mainly
causative
mutations
18. IthaMaps
• Epidemiological data for haemoglobinopathies
• 56 countries, 127 causative mutations, 87 publications
• Country-level presentation
• Two functionalities:
• Select a country => show the list of mutation frequencies in the
country
• Select a mutation => show frequencies per country on the map
Kountouris P et al. IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology. PLoS ONE 9(7): e103020.
20. HPLC tool
Goal:
To facilitate diagnosis through providing access to
experimental HPLC data and search interface
HPLC data provided by Bio-Rad Laboratories, Inc
25. Genotype – phenotype database
Goal:
Collect, store and analyse molecular and clinical data from
patients (and potentially carriers)
as part of a national project and an ongoing FP7 project (THALAMOSS)
26. • Under development – the DB and interface for
collecting and storing the data are completed
• Important: Privacy and authentication
• Challenge: data quality and validation
• So far – data from Cyprus
• 128 Hb H disease patients (α-thalassaemia)
• 544 β-thalassaemia patients
Genotype – phenotype database
28. IthaMaps – version II
Improvements from existing IthaMaps interface:
• Information on existing healthcare policies in each
country (e.g. prevention programme, national registry,
dedicated treatment centres etc.)
• Information on prevalence and incidence of major
haemoglobinopathies in each country
• Region-specific mutation frequencies (rather than
country-specific)
• Include more recent reports of epidemiology
33. Thanks for listening
Find
on:
Supported by:
Marina Kleanthous
Carsten W Lederer
John Old
Pavlos Fanis
Coralea Stephanou
Xenia Feleki
This work was co-funded by the European Regional Development Fund and the
Republic of Cyprus through the Research and Promotion Foundation Project
ΥΓΕΙΑ/ΒΙΟΣ/060(ΒΙΕ)/13