PowerPoint Presentation

ITHANET Information and Database Portal for the Thalassaemias and Other HaemoglobinopathiesPetros Kountouris, Ph.D.The Cyprus Institute of Neurology & Genetics

http://www.ithanet.eu

OverviewIntroductionITHANET Portal main sectionsLatest updatesCommunityIthaPediaITHANET databases & toolsIthaGenesIthaMapsHPLC toolFuture plans - Under developmentGenotype - Phenotype databaseIthaMaps V2

ITHANET Project(electronic Infrastructure for THAlassaemia 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 organisationsITHANET+ (funded by RPF), 2008-2010

The ITHANET Community PortalGoal: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 informationGoal: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 informationNews: 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 CommunityGoal:Provide information about organisations and experts worldwide working on haemoglobinopathies

IthaPediaGoal:Provide a collection of educational resources about haemoglobinopathies, laboratory protocols and clinical guidelines

IthaPedia

IthaPedia

IthaPedia

ITHANET Databases & Tools

IthaGenesAn 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 curationIthaGenes & IthaMapsOMIMWeekly PubMed updates(haemoglobin, thalassaemia, sickle-cell, haemoglobinopathies)dbSNPClinVarHbVarInitial IthaGenes listA Syllabus of Human Hemoglobin Variants (1996)A Syllabus of Thalassemia Mutations (1997)

External DBs

External AnnotationNew variations, epidemiologyMainly causative mutations

IthaMapsEpidemiological 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 countrySelect 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.

HPLC toolGoal: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 databaseGoal: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 completedImportant: Privacy and authenticationChallenge: data quality and validationSo far data from Cyprus128 Hb H disease patients (-thalassaemia)544 -thalassaemia patients

Genotype phenotype database

IthaMaps version IIImprovements 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 countryRegion-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 listeningFind on:

Supported by:

Marina KleanthousCarsten W LedererJohn OldPavlos FanisCoralea StephanouXenia FelekiThis work was co-funded by the European Regional Development Fund and the Republic of Cyprus through the Research and Promotion Foundation Project //060()/13