Working Groups

The activities of INHERENT are divided into five working groups (WG)

1. Clinical WG

Lead: Baba Inusa and Obiageli Nnodu for SCD; Sara Trompeter and Bin Alwi Zilfalil for thalassemia. Coordinator: Natasha Archer

The Clinical WG is working on the definition of the main clinical questions to be studied by INHERENT. This includes a detailed specification of the core data parameters required for any member participation and the data parameters needed for each clinical question. The Clinical WG has developed a CRF that can be used to gather data across countries with different resource capabilities. In collaboration with the Data Management and Analysis WG, established clinical, laboratory and disease ontologies, such as HPO, LOINC and SCDO, will be used for the standardization of the data, thus allowing data interoperability.


2. Genotyping WG

Lead: Coralea Stephanou, Siana Nkya

This WG is developing the common protocols for the GWAS experiments and for genotyping the alpha and beta globin gene clusters. The WG has agreed on the most suitable SNP array to be universally used across the network, while it is also investigating the need and feasibility of a custom content development. Moreover, this WG will identify a small number of genotyping centers that will carry out the genotyping experiments, thus ensuring consistency of GWAS experiments across the network. Towards this end, all necessary protocols for collection and transfer are also under development.


3. Data Management and Analysis WG

Lead: Kyriaki Michailidou, Petros Kountouris

This WG is developing the protocols for data management, security, and analysis, including bioinformatics and biostatistical analysis. Moreover, the WG is developing the infrastructure for the collection, storage and sharing of the INHERENT data. The network will collaborate with existing regional patient registries, such as RADeep and SPARCO, to integrate the INHERENT CRF into their existing infrastructure, thus avoiding the recruitment of the same patients for different software platforms. In addition, a central REDCap application for direct submission of patient data is under development for members that do not participate in existing registries. This WG, in collaboration with the Ethics WG, will also assess available solutions for the pseudonymization of patient data.

After all appropriate quality control measures will be performed, we will use imputation to the most updated multi-ethnic reference panel. Depending on the endpoint of interest, we will use the most appropriate statistical analyses to evaluate the effect of each variant as a modifier of the disease, such as survival analyses, linear or logistic regression taking into consideration possible confounders. Since the ascertainment of mutation carriers is not at random, we will use statistical techniques to account for potential biases. Identified modifying variants will then be used in combination to create polygenic risk scores that could potentially lead to a better estimation of the risk of developing different complications.


4. Ethics WG

Lead: Fedele Bonifazi, Viviana Giannuzzi. Coordinator: Antonella Didio

This WG is currently mapping the existing legislation and requirements related to clinical research, personal data protection, biosample management, data/sample sharing, patient consent and assent in the participating countries and regions. Network-specific guidelines and templates will be developed to coordinate and facilitate members with the applications of the research study to the competent ethics committees/Institutional Review Boards.


5. Knowledge Translation WG

Lead: Kevin Kuo, Emmanuel Peprah. Coordinator: Anneliesse Justiniano

This WG focuses on translating the knowledge gained from INHERENT to improve the health and wellbeing of patients with hemoglobinopathies. Therefore, through networking and close involvement of disease stakeholders, this WG aims to use the results from INHERENT to make informed decisions about health policies, programmes and practices in the local and global context. The WG takes an integrated KT approach with the overall goals of
  1. integrating findings from INHERENT within the larger body of knowledge on hemoglobinopathies using quantitative and/or qualitative approaches (e.g., consensus conference, expert panel, practice guidelines);
  2. identifying and tailoring the message to the appropriate audience (e.g., educational sessions with patients, practitioners, policymakers, tools creation, and media engagement); and
  3. facilitate interaction between INHERENT researchers and decision-makers at the local and global level to plan, produce, disseminate and apply findings from INHERENT in decision-making.