Disease groups research

Detailed stratified GWAS analysis for severe COVID-19 in four European populations

Subnetwork: Bleeding - Coagulation disorders, Bone marrow failure, Hemochromatosis and other iron disorders, Histiocytic Disorders, Lymphoid malignancies, Myeloid malignancies

Disease group/s: Transversal

Type of material: Publication

Centers participating: Charité Universitätsmedizin Berlin, E.O. Ospedali Galliera, Genoa, Foundation IRCCS Ca’Granda Ospedale Maggiore Policlinico, Milan, Hospital Universitari Vall d'Hebron, Hospital Universitario Virgen del Rocío, IRCCS Clinical Institute Humanitas - Rozzano, Fondazione IRCCS San Gerardo dei Tintori, ... See MoreUniversitätsklinikum Hamburg-Eppendorf, Universitätsklinikum Köln, University Hospital RWTH Aachen

Experts: Anna Ludovica Fracanzani

Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9703941/

Clonal hematopoiesis is not significantly associated with COVID-19 disease severity

Subnetwork: Lymphoid malignancies

Disease group/s:

Type of material: Publication

Centers participating: Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Fondazione IRCCS San Gerardo dei Tintori, Spedali Civili di Brescia

Link: https://pubmed.ncbi.nlm.nih.gov/35839449/

Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome

Subnetwork:

Disease group/s:

Type of material: Publication

Centers participating: Ospedale Papa Giovanni XXIII di Bergamo, Fondazione IRCCS San Gerardo dei Tintori, Spedali Civili di Brescia, Universitätsklinikum Freiburg

Experts: Charlotte Niemeyer

Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9366004/

Reply to: Hultström et al., Genetic determinants of mannose-binding lectin activity predispose to thromboembolic complications in critical COVID-19. Mannose-binding lectin genetics in COVID-19

Subnetwork:

Disease group/s:

Type of material: Publication

Centers participating: Copenhagen University Hospital – Rigshospitalet, IRCCS Clinical Institute Humanitas - Rozzano, IRCCS Institute Giannina Gaslini - Genoa, Fondazione IRCCS San Gerardo dei Tintori

Link: https://pubmed.ncbi.nlm.nih.gov/35624207/

Hemochromatosis classification: update and recommendations by the BIOIRON Society

Subnetwork: Hemochromatosis and other iron disorders

Disease group/s: HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1 - OMIM 235201),non-HFE related hereditary hemochromatosis,Rare hereditary hemochromatosis (Other than Type 1),Transversal for Hemochromatosis and other iron disorders

Type of material: Publication

Centers participating: AOUI Verona, Centro Hospitalar Universitário de Santo António, Universitätsklinikum Heidelberg

Experts: Fabiana Busti, Domenico Girelli, Graça Porto

Link: https://pubmed.ncbi.nlm.nih.gov/34601591/

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Subnetwork: Bleeding - Coagulation disorders, Bone marrow failure, Hemochromatosis and other iron disorders, Histiocytic Disorders, Lymphoid malignancies, Myeloid malignancies

Disease group/s: Transversal

Type of material: Publication

Centers participating: Aarhus University Hospital, Academic Medical Center Amsterdam, Assistance Publique-Hôpitaux de Marseille, Assistance Publique-Hôpitaux de Paris, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, CHU de Lille, Hospices Civils de Lyon, ... See MoreHospital Universitari Vall d'Hebron, IRCCS Ospedale San Raffaele di Milano, Karolinska University Hospital, Spedali Civili di Brescia, Tartu University Hospital, University Hospital Leuven, University Medical Center Utrecht

Link: https://pubmed.ncbi.nlm.nih.gov/35576468/

Recommendations for diagnosis and treatment of methemoglobinemia

Subnetwork: Red blood cell defects

Disease group/s: Hemoglobinopathy (Other than THAL and SCD)

Type of material: Publication

Centers participating: AOU Federico II - Naples, AOUI Verona, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, E.O. Ospedali Galliera, Genoa, Foundation IRCCS Ca’Granda Ospedale Maggiore Policlinico, Milan, Foundation IRCCS Polyclinic San Matteo, Pavia, Leiden University Medical Center, ... See MoreUniversitätsklinikum Heidelberg, University Medical Center Utrecht

Experts: Immacolata Andolfo, Wilma Barcellini, Paola Bianchi, Lucia De Franceschi, Mariane de Montalembert, Elisa Fermo, Gian Luca Forni, ... See MoreAntonella Gambale, Cornelius Harteveld, Achille Iolascon, Roberta Russo, Richard van Wijk

Link: https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.26340

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

Subnetwork: Red blood cell defects

Disease group/s: Beta-thalassemia and related diseases

Type of material: Publication

Centers participating: Hospital Universitari Vall d'Hebron, Leiden University Medical Center

Experts: David Beneitez Pastor, Cristina Diaz de Heredia, María del Mar Mañú Pereira, Frans Smiers, Pablo Velasco

Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7893112/pdf/fphys-12-628236.pdf

Addressing the Diagnostic Gaps in Pyruvate Kinase Deficiency: Consensus Recommendations on the Diagnosis of Pyruvate Kinase Deficiency

Subnetwork: Red blood cell defects

Disease group/s: Rare constitutional hemolytic anemia due to pyruvate kinase deficiency

Type of material: Publication

Centers participating: Assistance Publique-Hôpitaux de Paris, Hôpital Henri-Mondor, Unidade Local de Saúde de Coimbra (ULS de Coimbra), Foundation IRCCS Ca’Granda Ospedale Maggiore Policlinico, Milan, Hospital Universitari Vall d'Hebron, University Medical Center Utrecht

Experts: Paola Bianchi, Elisa Fermo, Tabita Magalhaes Maia, María del Mar Mañú Pereira, Eduard van Beers

Link: https://onlinelibrary.wiley.com/doi/epdf/10.1002/ajh.25325

Collaborative Platform on Red Blood Cell and COVID-19 Patients

Subnetwork: Red blood cell defects

Disease group/s: Transversal for Red blood cell defects

Type of material: Observational study

Centers participating: Academic Medical Center Amsterdam, Aghia Sophia Childrens Hospital, AO Padua, AOU Federico II - Naples, AOU Modena, AOU S.Luigi Gonzaga, Archbishop Makarios III Hospital, ... See MoreAssistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Centro Hospitalar Universitário de Santo António, Unidade Local de Saúde de Coimbra (ULS de Coimbra), Children's Health Ireland, CUB-Hôpital Erasme, Erasmus MC: University Medical Center Rotterdam, Foundation CNR Tuscany Region G. Monasterio, General Hospital of Athens "LAIKO", Hospital de Sant Joan de Déu- Hospital de la Santa Creu i Sant Pau, Hospital General Universitario Gregorio Marañón, Hospital Universitari Vall d'Hebron, Riuniti hospitals Villa Sofia-Cervello - Palermo, Spedali Civili di Brescia, Universitair Ziekenhuis Antwerpen, Universitätsklinikum Heidelberg, University Hospital Brno, University Hospital Leuven, University Hospital Liège, University Hospitals Saint-Luc, University Medical Center Utrecht

Experts: Pepe Alessia, David Beneitez Pastor, Celeste Bento, François Boemer, Filippo Cademartiri, Soteroula Christou, Anna Collado Gimbert, ... See MoreRaffaella Colombatti, Mariane de Montalembert, Timothy Devos, Michael Doubek, Marie-Françoise Dresse, Benghiat Fleur Samantha, Roberto Foà, Béatrice Gulbis, Kaoutar Hafraoui, Achille Iolascon, Antonis Kattamis, Marina Kleanthous, Joachim Kunz, Veerle Labarque, Filomena Longo, Aurelio Maggio, María del Mar Mañú Pereira, Corrina McMahon, Erfan Nur, Simona Raso, Anna Rekleiti, Maria de los Angeles Rodríguez Sánchez, Anna Ruiz, Irene Savvidou, Eduard van Beers, Anne Van De Velde, Pablo Velasco, Vincenzo Voi, Ersi Voskaridou-Dimoula

Link: https://eurobloodnet.eu/covid/about-the-platform/

EDITSCD

Subnetwork: Red blood cell defects

Disease group/s: Sickle cell disease and related diseases

Type of material: Observational study

Centers participating: IRCCS Ospedale San Raffaele di Milano, Universitätsklinikum Freiburg

Link: https://eurobloodnet.eu/research/editscd/about-editscd/

SYNTHEMA: Sickle cell disease

Subnetwork: Red blood cell defects

Disease group/s: Sickle cell disease and related diseases

Type of material: Observational study

Centers participating: AO Padua, Assistance Publique-Hôpitaux de Paris, Hôpital Henri-Mondor, Charité Universitätsmedizin Berlin, Hospital Universitari Vall d'Hebron, University Medical Center Utrecht

Experts: Pablo Bartolucci, Gianni Bisogno, Lars Bullinger, Raffaella Colombatti, Anna Dolink, María del Mar Mañú Pereira, Eduard van Beers

Link: https://eurobloodnet.eu/research/synthema/about-synthema/

Genomed4ALL: Sickle Cell Disease Use case

Subnetwork: Red blood cell defects

Disease group/s: Sickle cell disease and related diseases

Type of material: Observational study

Centers participating: AO Padua, Assistance Publique-Hôpitaux de Paris, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Hospital Universitari Vall d'Hebron, University Medical Center Utrecht

Experts: Pablo Bartolucci, Raffaella Colombatti, Mariane de Montalembert, María del Mar Mañú Pereira, Eduard van Beers

Link: https://eurobloodnet.eu/research/genomed4all/about-genome4all/

Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective

Subnetwork: Red blood cell defects

Disease group/s: Sickle cell disease and related diseases

Type of material: Publication

Centers participating: Aghia Sophia Childrens Hospital, AO Padua, Archbishop Makarios III Hospital, Assistance Publique-Hôpitaux de Paris, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, Unidade Local de Saúde de Coimbra (ULS de Coimbra), ... See MoreChildren's Health Ireland, Copenhagen University Hospital – Rigshospitalet, CUB-Hôpital Erasme, Gemeinschaftsklinikum Mittelrhein gGmbH, Hospital General Universitario Gregorio Marañón, Hospital Universitari Vall d'Hebron, Universitätsklinikum Heidelberg, University Medical Center Utrecht

Experts: Celeste Bento, Elena Cela, Soteroula Christou, Anna Collado Gimbert, Raffaella Colombatti, Mariane de Montalembert, Laurence Dedeken, ... See MorePierre Fenaux, Frédéric Galacteros, Andreas Glenthøj, Béatrice Gulbis, Victoria Gutiérrez Valle, Antonis Kattamis, Petros Kountouris, Joachim Kunz, Stephan Lobitz, María del Mar Mañú Pereira, Corrina McMahon, Mariangela Pellegrini, Eduard van Beers

Link: https://www.sciencedirect.com/science/article/abs/pii/S2352302623001825?fr=RR-2&ref=pdf_download&rr=8135989d8dfa11bf

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

Subnetwork: Red blood cell defects

Disease group/s: Alpha- thalassaemia diseases,Beta-thalassemia and related diseases,Hemoglobinopathy (Other than THAL and SCD),Sickle cell disease and related diseases

Type of material: Publication

Centers participating: Archbishop Makarios III Hospital, Hospital Universitari Vall d'Hebron, Riuniti hospitals Villa Sofia-Cervello - Palermo

Experts: Marina Kleanthous, Petros Kountouris, Aurelio Maggio, María del Mar Mañú Pereira, Coralea Stephanou

Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10390849/

Rare Anaemia Disorders European Epidemiological Platform (RADeep)

Subnetwork: Bleeding - Coagulation disorders, Bone marrow failure, Hemochromatosis and other iron disorders, Histiocytic Disorders, Lymphoid malignancies, Myeloid malignancies, Red blood cell defects

Disease group/s: Transversal

Type of material: Observational study

Centers participating: Archbishop Makarios III Hospital, CUB-Hôpital Erasme, Hospital Universitari Vall d'Hebron

Experts: Béatrice Gulbis, Marina Kleanthous, María del Mar Mañú Pereira

Link: https://eurobloodnet.eu/enrol/disease-registries/radeep/about-radeep/