The International Hemoglobinopathy Research Network (<scp>INHERENT</scp>): An international initiative to study the role of genetic modifiers in hemoglobinopathies

Kountouris, Petros; Stephanou, Coralea; Archer, Natasha M.; Bonifazi, Fedele; Giannuzzi, Viviana; Kuo, Kevin H.M.; Maggio, Aurelio; Makani, Julie; Mañú‐Pereira, María del Mar; Michailidou, Kyriaki; Nkya, Siana; Nnodu, Obiageli; Trompeter, Sara; Tshilolo, Léon; Wonkam, Ambroise; Zilfalil, Bin Alwi; Inusa, Baba; Kleanthous, Marina

doi:10.1002/ajh.26323

Cited by 23 publications

(19 citation statements)

References 12 publications

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“…In fact, the identification and characterization of a few known genetic modifiers (including those reviewed in the present study) are, as yet, insufficient to guide treatment recommendations or to reliably stratify patients. As proposed in the review article by Kountouris et al [214], larger multi-ethnic studies are needed to identify and validate further disease modifiers that can be used for patient stratification and personalized treatment. The INHERENT network is expected to greatly help in these research efforts.…”

Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications

Gambari,

Waziri,

Goonasekera

et al. 2024

IJMS

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In this short review we have presented and discussed studies on pharmacogenomics (also termed pharmacogenetics) of the drugs employed in the treatment of β-thalassemia or Sickle-cell disease (SCD). This field of investigation is relevant, since it is expected to help clinicians select the appropriate drug and the correct dosage for each patient. We first discussed the search for DNA polymorphisms associated with a high expression of γ-globin genes and identified this using GWAS studies and CRISPR-based gene editing approaches. We then presented validated DNA polymorphisms associated with a high HbF production (including, but not limited to the HBG2 XmnI polymorphism and those related to the BCL11A, MYB, KLF-1, and LYAR genes). The expression of microRNAs involved in the regulation of γ-globin genes was also presented in the context of pharmacomiRNomics. Then, the pharmacogenomics of validated fetal hemoglobin inducers (hydroxyurea, butyrate and butyrate analogues, thalidomide, and sirolimus), of iron chelators, and of analgesics in the pain management of SCD patients were considered. Finally, we discuss current clinical trials, as well as international research networks focusing on clinical issues related to pharmacogenomics in hematological diseases.

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Section: Conclusion and Future Perspectivesmentioning

confidence: 99%

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications

Gambari,

Waziri,

Goonasekera

et al. 2024

IJMS

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“…IthaPhen is currently focused on the annotation of case‐level and segregation evidence particularly for less common variants that, due to their frequency, represent the most challenging cases for diagnostic laboratories. However, in the future, we plan to also incorporate data from studies reporting aggregated cohort descriptions and larger amounts of disease‐modifying variants 20,21 . This will potentially contribute to the personalized diagnosis and management of hemoglobinopathies.…”

Section: Figurementioning

confidence: 99%

“…However, in the future, we plan to also incorporate data from studies reporting aggregated cohort descriptions and larger amounts of disease-modifying variants. 20,21 This will potentially contribute to the personalized diagnosis and management of hemoglobinopathies.…”

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confidence: 99%

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies

et al. 2023

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“…The formation of several regional academic clinical and research networks has led to advocacy, knowledge sharing, and advances in care for SCD in SSA. Networks such as the African Research and Innovative Initiative for Sickle Cell Education (ARISE) [32], the International Hemoglobinopathy Research Network (INHER-ENT) [33], the Re ´seau d'Etude ´de la Dre ´panocytose en Afrique Centrale (REDAC) [34], the Sickle Pan-African Research Consortium (SPARCO) [35], and others have brought together leading clinicians and scientists on the continent to critically appraise and address the challenges of SCD care. Furthermore, increased recognition of the contribution of noncommunicable diseases to mortality in LMICs through the Millenium Development Goals has added to the demand for improvements in care for SCD [36].…”

Section: Current Status Of Cellular Therapies In Low-income and Middl...mentioning

confidence: 99%

Global perspectives on cellular therapy for children with sickle cell disease

John

Namazzi

Chirande

et al. 2022

Current Opinion in Hematology

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Purpose of reviewLow-income and middle-income countries (LMICs), primarily in sub-Saharan Africa (SSA), predominantly experience the burden of sickle cell disease (SCD). High frequency of acute and chronic complications leads to increased utilization of healthcare, which burdens fragile health systems. Mortality for children with limited healthcare access remains alarmingly high. Cellular based therapies such as allogeneic hematopoietic stem cell transplant (HSCT) are increasingly used in resource-rich settings as curative therapy for SCD. Broad access to curative therapies for SCD in SSA would dramatically alter the global impact of the disease. Recent findingsCurrently, application of cellular based therapies in LMICs is limited by cost, personnel, and availability of HSCT-specific technologies and supportive care. Despite the challenges, HSCT for SCD is moving forward in LMICs. Highly anticipated gene modification therapies have recently proven well tolerated and feasible in clinical trials in resource-rich countries, but access remains extremely limited.

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The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies

Cited by 23 publications

References 12 publications

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications

Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies

Global perspectives on cellular therapy for children with sickle cell disease

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