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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
Overview
• Introduction
• ITHANET Portal – main sections
• Latest updates
• Community
• IthaPedia
• ITHANET databases & tools
• IthaGenes
• IthaMaps
• HPLC tool
• Future plans - Under development
• Genotype - Phenotype database
• IthaMaps V2
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
ITHANET - Information and Database Portal for the Thalassaemias and other Haemoglobinopathies - Petros Knotouris
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
The ITHANET Community Portal
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
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
ITHANET Portal – Community
Goal:
Provide information about organisations and experts
worldwide working on haemoglobinopathies
ITHANET - Information and Database Portal for the Thalassaemias and other Haemoglobinopathies - Petros Knotouris
IthaPedia
Goal:
Provide a collection of educational resources about
haemoglobinopathies, laboratory protocols and
clinical guidelines
IthaPedia
IthaPedia
IthaPedia
ITHANET Databases & Tools
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.
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
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.
ITHANET - Information and Database Portal for the Thalassaemias and other Haemoglobinopathies - Petros Knotouris
HPLC tool
Goal:
To facilitate diagnosis through providing access to
experimental HPLC data and search interface
 HPLC data provided by Bio-Rad Laboratories, Inc
HPLC tool
HPLC tool
HPLC tool
Under development
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)
• 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
ITHANET - Information and Database Portal for the Thalassaemias and other Haemoglobinopathies - Petros Knotouris
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
IthaMaps – version II
IthaMaps – version II
IthaMaps – version II
Summary
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

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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
  • 2. Overview • Introduction • ITHANET Portal – main sections • Latest updates • Community • IthaPedia • ITHANET databases & tools • IthaGenes • IthaMaps • HPLC tool • Future plans - Under development • Genotype - Phenotype database • IthaMaps V2
  • 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
  • 11. IthaPedia Goal: Provide a collection of educational resources about haemoglobinopathies, laboratory protocols and clinical guidelines
  • 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