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Research projects

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR CHU de Strasbourg - Hôpital de Hautepierre Service de Neuropédiatrie

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII) CHU Paris - Hôpital Robert Debré UF de Génétique clinique

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype? GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Service d'hématologie pédiatrique

At the origins of anemia and thrombocytopenia in Fanconi anemia. CLCC Institut Gustave Roussy 4Rs : Replication, Repair, Recombination and ROS

ADDRess: Translational research for patients with abnormal DNA Damage Response Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitäts-Frauenklinik Heidelberg Frauenheilkunde und Geburtshilfe

ADDRess: Translational research for patients with abnormal DNA Damage Response Universität Würzburg - Biozentrum Institut für Humangenetik

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches Paul-Ehrlich-Institut Abteilung Medizinische Biotechnologie

ADDRess: Translational research for patients with abnormal DNA Damage Response Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitätsklinikum Düsseldorf Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination) CECAD Research Center Exzellenzcluster CECAD in der Universität zu Köln

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT IFOM - Istituto FIRC di Oncologia Molecolare Firc Institute of Molecular Oncology (IFOM)

Cellular models for high content drug screening in Fanconi anemia therapeutics IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau Grupo de Síndromes de reparación del DNA y predisposición al cáncer

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES Hospital Infantil Universitario Niño Jesús Servicio de Hematología y Hemoterapia

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES Hospital Universitario Fundación Jiménez Díaz

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH ETH Zurich - Hönggerberg campus Institute of Molecular Health Sciences

Fanconi anemia:genotype-phenotype correlations Institution: Information not provided - US

Fa ddr pathway in germline integrity Institution: Information not provided - US

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

Identification by high-throughput functional screens of Fanconi disease modifying genes DRF/Institut François-Jacob CEA Paris-Saclay Laboratoire d'Exploration Fonctionnelle des Génomes - LEFG

Li-Fraumeni syndrome-cancer predisposition syndrome registry Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors Universitätsklinikum Augsburg II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome Medizinische Hochschule Hannover Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

Integrated Multiomics and Multilevel Characterization of Haematological Disorders and Malignancies IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF Dermatologie

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations University of Victoria Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE) Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases Fundación Progreso y Salud Área de bioinformática clínica

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling Fundación Progreso y Salud Área de bioinformática clínica

Development of a repository of genomic analysis workflows Fundación Progreso y Salud Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Centro de Regulación Genómica Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Clínic de Barcelona Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari Vall d'Hebron Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Sant Joan de Déu Barcelona Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari de Bellvitge Unidad de Genética Molecular

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD) Hospital Universitario La Paz

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine Instituto de Investigación Hospital 12 de Octubre Grupo de Enfermedades raras, mitocondriales y neuromusculares

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research Newcastle University Institute of Genetic Medicine

Detection and simulation of femoroacetabular impingement University of Ottawa School of Electrical Engineering and Computer Science (EECS)

Inherited bone marrow failure syndromes: from genomic discoveries to biology Hospital for Sick Children, Research Institute

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform Centro de Regulación Genómica Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

Multicentric Research projects

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases CECAD Research Center Exzellenzcluster CECAD in der Universität zu Köln

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia Hospital Universitario Fundación Jiménez Díaz

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells Institut Curie Macromolécules et Microsystèmes en Biologie et en Medecine

CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments Universitätsklinikum des Saarlandes Institut für Molekulare Zellbiologie

International Clearinghouse for Birth Defects Monitoring Systems Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

GENESKIN: European network on rare genetic skin diseases Istituto Dermopatico dell'Immacolata - IRCCS Laboratorio di Biologia Molecolare e Cellulare

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics A.O.U. Policlinico "G. Martino" U.O.C. di Neuropsichiatria Infantile

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated) Radboudumc - Radboud universitair medisch centrum Afdeling Genetica

E-Enerca: New E-Health Services For The European Reference Network On Rare Anaemias Institution: Information not provided - ES

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases Azienda Ospedaliera di Padova Clinica Pediatrica

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre

Service de Neuropédiatrie

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré

UF de Génétique clinique

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype?
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Service d'hématologie pédiatrique

At the origins of anemia and thrombocytopenia in Fanconi anemia.
CLCC Institut Gustave Roussy

4Rs : Replication, Repair, Recombination and ROS

ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg

Frauenheilkunde und Geburtshilfe

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum

Institut für Humangenetik

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut

Abteilung Medizinische Biotechnologie

ADDRess: Translational research for patients with abnormal DNA Damage Response
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf

Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination)
CECAD Research Center

Exzellenzcluster CECAD in der Universität zu Köln

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - IT
IFOM - Istituto FIRC di Oncologia Molecolare

Firc Institute of Molecular Oncology (IFOM)

Cellular models for high content drug screening in Fanconi anemia therapeutics
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau

Grupo de Síndromes de reparación del DNA y predisposición al cáncer

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES
Hospital Infantil Universitario Niño Jesús

Servicio de Hematología y Hemoterapia

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - ES
Hospital Universitario Fundación Jiménez Díaz

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH
ETH Zurich - Hönggerberg campus

Institute of Molecular Health Sciences

Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

Fa ddr pathway in germline integrity
Institution: Information not provided - US

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

Identification by high-throughput functional screens of Fanconi disease modifying genes
DRF/Institut François-Jacob CEA Paris-Saclay

Laboratoire d'Exploration Fonctionnelle des Génomes - LEFG

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

CancerEvo: Investigation of evolution in sporadic and tumor disposition syndrome-associated tumors
Universitätsklinikum Augsburg

II. Medizinische Klinik

OnkoRiskNET: Cooperation network for the provision of local care for patients and families with a genetic tumour risk syndrome
Medizinische Hochschule Hannover

Institut für Humangenetik

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

Integrated Multiomics and Multilevel Characterization of Haematological Disorders and Malignancies
IRST - Istituto Scientifico Romagnolo per lo studio e la cura dei Tumori

IRCCS Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire de Bruxelles (H.U.B) - Site HUDERF

Dermatologie

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria

Community Genetics Research Program/Island Medical Program

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
Fundación Progreso y Salud

Área de bioinformática clínica

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud

Área de bioinformática clínica

Development of a repository of genomic analysis workflows
Fundación Progreso y Salud

Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica

Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona

Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre

Grupo de Enfermedades raras, mitocondriales y neuromusculares

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University

Institute of Genetic Medicine

Detection and simulation of femoroacetabular impingement
University of Ottawa

School of Electrical Engineering and Computer Science (EECS)

Inherited bone marrow failure syndromes: from genomic discoveries to biology
Hospital for Sick Children, Research Institute

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica

Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases

CECAD Research Center

Exzellenzcluster CECAD in der Universität zu Köln

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia

Hospital Universitario Fundación Jiménez Díaz

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

Institut Curie

Macromolécules et Microsystèmes en Biologie et en Medecine

CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments

Universitätsklinikum des Saarlandes

Institut für Molekulare Zellbiologie

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

GENESKIN: European network on rare genetic skin diseases

Istituto Dermopatico dell'Immacolata - IRCCS

Laboratorio di Biologia Molecolare e Cellulare

CHERISH: improving diagnoses of mental retardation in children in Central Eastern Europe and Central Asia through genetic characterisation and bioinformatics/biostatistics

A.O.U. Policlinico "G. Martino"

U.O.C. di Neuropsichiatria Infantile

GENCODYS: Genetic and Epigenetic Networks in Cognitive Dysfunction (Terminated)

Radboudumc - Radboud universitair medisch centrum

Afdeling Genetica

E-Enerca: New E-Health Services For The European Reference Network On Rare Anaemias

Institution: Information not provided - ES

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Azienda Ospedaliera di Padova

Clinica Pediatrica