ITHANET Project

Haemoglobinopathies are the world’s most common genetic defects with millions of carriers and patients. The ITHANET portal is an expanding community resource for clinicians and researchers dealing with haemoglobinopathies and has been established as an important tool for the research, prevention and diagnosis of haemoglobinopathies. ITHANET and its core databases of genetic variation-IthaGenes, epidemiology-IthaMaps, and diagnostic and clinical data-IthaChrom draw on the newest and best available knowledge to assist all relevant experts towards the effective and efficient management of haemoglobinopathies.

The main objective of the project is to strengthen the international role of the ITHANET portal as a reference point for haemoglobinopathy-related research, treatment and diagnosis and as a daily scientific resource for patients, carriers, and all those interested in haemoglobinopathies. Given its role as official partner of the Human Variome Project’s Global Globin Network for data storing, curation and sharing within and between countries and the coordination of the Haemoglobinopathy Expert Panel for the standardized annotation of variants that affect haemoglobinopathies, the project aims to:

  1. Apply internationally established standards and guidelines to the annotation of variations affecting haemoglobinopathies based on the expertise of an extant international expert panel formed between the ITHANET portal and the HVP GG2020 Challenge.
  2. Perform a worldwide epidemiological study of haemoglobinopathies, with a focus on micromapping and the impact of migration, and develop user-friendly interactive tools to facilitate evidence-based decision-making.
  3. Develop the first haemoglobinopathy-specific genotype – phenotype database with data from previously funded research projects and from clinical/diagnostic cases in scientific publications.
  4. Help clinicians, laboratory staff and health authorities to acquire up-to-date knowledge and apply standardised methods so that they can make informed decisions on their health care.
  5. Engage the worldwide community of haemoglobinopathies into data sharing and microattributions through an open and public website with clear acknowledgements of everyone’s input.

Table 1: Work Package Table

No

Title

Person-months

Start Date

(project month)

End Date

(project month)

WP1

Project Management

3.1

1

36

WP2

Dissemination Activities

7

1

36

WP3

Epidemiology

27

1

36

WP4

Variant annotation and classification

23

1

36

WP5

Genotype - Phenotype database

21.5

1

36

 

Table 2: List of Deliverables

No

Title

Relevant WP No

Deliverable Type

(Document, Report,

Publication, Poster,

Pilot, Prototype,

Website, Video,

Software,

Database, Other)

Classification of

Dissemination

(Public,

Confidential)

Deliverable

Completion

(Project Month)

D1

MOU and IPA, governing the collaboration and the handling of project outcomes

WP1

Other (Agreement)

Confidential

1

D2

Intermediate progress report, including financial report

WP1

Report

Public

18

D3

Updated list of ITHANET contributors

WP1

Webpage

Public

36

D4

Final progress report, including financial report

WP1

Report

Public

36

D5

Minutes of scientific coordination meetings

WP1

Document

Confidential

36

D6

Project’s website (as part of the extant ITHANET portal)

WP1

Website

Public

3

D7

At least one article in lay journal/magazine

WP2

Publication

Public

30

D8

Eighteen e-newsletters sent to ITHANET subscribers every two months

WP2

Other (Newsletter)

Public

36

D9

At least three manuscripts ready for publication submitted to a preprint server

WP2

Publication

Public

36

D10

At least five presentations regarding the outcomes of the project at national or international conferences

WP2

Poster / Presentation

Public

36

D11

Documents relevant to the joint Scientific Information Day and the ITHANET workshop, including programme, list of participants, scientific presentations at the event and training material.

WP2

Document

Public

36

D12

Disease-specific questionnaires for epidemiological data collection

WP3

Document

Public

6

D13

List of experts to be contacted for data contributions

WP3

Document

Confidential

6

D14

Upgrated IthaMaps database and interface

WP3

Website, Database

Public

10

D15

First update of the IthaMaps content after incorporating data contributions, data from literature and demographic/migration data

WP3

Website, Database

Public

24

D16

Final update of the IthaMaps content after incorporating data contributions, data from literature and demographic/migration data

WP3

Website, Database

Public

36

D17

Web tool for visualisation of epidemiological information for informed decision making

WP3

Website

Public

36

D18

Upgraded IthaGenes database and interface with additional sections and parameters

WP4

Website, Database

Public

6

D19

 

Updated IthaGenes content, including additional annotation needed for variant classification

WP4

Website, Database

Public

12

D20

First release of the online recommendation system for variant classification

WP4

Website, Database

Confidential

18

D21

Final release of the online recommendation system for variant classification

WP4

Website, Database

Public

22

D22

List of variants annotated by the Expert Panel submitted to ClinVar

WP4

Document, Website,

Database

Public

36

D23

Fully designed IthaPhen database with data insertion web interface and access control

WP5

Database, Website

Confidential

12

D24

First update of the IthaPhen content after incorporating existing anonymised patient data and genotype – phenotype data from literature

WP5

Database, Website

Public

24

D25

Final update of the IthaPhen content after incorporating existing anonymised patient data and genotype – phenotype data from literature

WP5

Database, Website

Public

36

D26

IthaPhen search and visualisation interface

WP5

Website

Public

36

 

This work was co-funded by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation (Project: EXCELLENCE/1216/256)