ARISE consortium, as member of the International Hemologlobinopathy Research Network – INHERENT is excited to announce a paper recently published in the American Journal of Hematology.
The article presents INHERENT as an international network focused on the study of genetic modifiers for haemoglobinopathies through a large-scale multi-ethnic genome-wide association study. INHERENT will study how genetic modifiers influence the diverse clinical manifestations and the varying degree of severity of haemoglobinopathies, including Thalassemia syndromes and Sickle Cell Disease.
The article also highlights the objectives and challenges of the network and its uniqueness is underlined as well.
INHERENT brings together 9 existing international/regional consortia in the field, namely ITHANET, RADeep, SPARCO, SADaCC, REDAC, HVP GGN, IHR and ClinGen Hemoglobinopathy VCEP and ARISE itself, and is endorsed by the European Reference Network on rare haematological diseases, ERN-EuroBloodNet.
Participation in INHERENT is open to any group that can submit a minimum of 30 samples with their core phenotypic description. The current membership includes over 170 experts from 90 organizations, spanning 36 countries worldwide. With its current membership, the network has the potential to enrol over 73 thousand patients. The goal is to enrol at least 30 thousand patients, which is over one order of magnitude larger than any previous GWAS in the field.
The large increase in the sample size and the diversity in the studied populations will enable novel discoveries and expand knowledge on haemoglobinopathy genetics, thus paving the way for advancing the science of personalized diagnosis and treatment.