Publications
Total publications: 12
Cite INHERENT:
Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. PMID: 34406671
Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review.
This scoping review summarizes genetic variants that have been associated with vaso-occlusive crises and acute pain manifestations in sickle cell disease. It highlights modifier genes and pathways involved in inflammation, endothelial and vascular function, adhesion biology, coagulation, oxidative stress, and pain signaling, discussing how these findings may support improved risk stratification and more personalized approaches to prevention and management of acute painful events.
Sophocleous, F., Archer, N.M. and Lederer, C.W., 2025. Genetic Modifiers Associated with Vaso-Occlusive Crises and Acute Pain Phenomena in Sickle Cell Disease: A Scoping Review. International Journal of Molecular Sciences, 26(9), p.4456. DOI: 10.3390/ijms26094456
Ethical and regulatory requirements for conducting researcher-driven large-scale multinational genetic haematological studies: the INHERENT experience.
This publication describes the ethical, legal, and regulatory challenges encountered when coordinating researcher-driven, large-scale multinational genetic studies within the INHERENT network. It outlines practical approaches for navigating cross-country requirements including governance frameworks, data sharing and access procedures, informed consent considerations, privacy and GDPR compliance, and harmonization of approvals to enable efficient international collaboration in hemoglobinopathy research.
Didio, A., Giannuzzi, V., Archer, N., Gani, E., Sblano, S., Peprah, E., Kountouris, P., Bonifazi, F. and International Hemoglobinopathy Research Network (INHERENT), 2025. Ethical and regulatory requirements for conducting researcher-driven large-scale multinational genetic haematological studies: the INHERENT experience. Health Research Policy and Systems, 23(1), p.101.
Pilot of the International Hemoglobinopathy Research Network (INHERENT) for a multi-ethnic genome-wide association study
Pilot of the International Hemoglobinopathy Research Network (INHERENT) for a multi-ethnic genome-wide association study presents the pilot phase of the INHERENT initiative, established to investigate genetic modifiers of sickle cell disease and thalassemia through a large-scale, multi-ethnic genome-wide association study. The study demonstrates the feasibility of international collaboration for harmonised phenotypic and genomic data collection across diverse healthcare settings, while identifying key challenges related to data standardisation and interoperability. It provides an important foundation for the full INHERENT study and for future research aimed at improving patient stratification and personalised care in hemoglobinopathies.
Kountouris, P., Stephanou, C., Xenophontos, M., Minaidou, A., Christou, S., Savvidou, I., Rekleiti, A., Pyrovolaki, K., Konstantinou, N., Tshilolo, L., et al., 2026. Pilot of the International Hemoglobinopathy Research Network (INHERENT) for a multi-ethnic genome-wide association study. Blood Global Hematology, 2(3), p.100098.