Cerca un progetto di ricerca
Altra/e opzione/i di ricerca
192 Risultato/i
Progetti di ricerca terminati = Finanziato da un ente associato a IRDiRC =
Membro di una ERN =
Progetti di ricerca

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

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

Niedersachsen
HANNOVER
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

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

WIEN
WIEN
i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

OOST-VLAANDEREN
GENT
Unraveling pathophysiologic and genetic causes of primary immune deficiencies with a focus on antibody disorders (common variable immunodeficiency= CVID) and disorders of anti-fungal immunity (chronic mucocutaneous candidiasis = CMC)
PID research lab (PIRL), UZ Gent - MRBII - Entrance 38
Center for Primary Immunodeficiencies Ghent, Jeffrey Modell Foundation diagnostic and research center

Colombie-Britannique
VICTORIA
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

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

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

Baden-Württemberg
FREIBURG
A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
i-PAD:Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification According to Cellular Pathways -DE
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
The NF-kappaB signaling pathways in health und disease: Molecular and cellular effects of NFKB1 and NFKB2 mutations in primary antibody deficiency syndromes
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Niedersachsen
HANNOVER
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Pädiatrische Pneumologie, Allergologie und Neonatologie

Niedersachsen
HANNOVER
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Medizinische Hochschule Hannover
Klinik für Rheumatologie und Immunologie

Schleswig-Holstein
KIEL
GAIN: German network for research and therapy optimization of patients with multi-organ autoimmune diseases
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Innere Medizin I

MARCHE
ANCONA
Incidenza, gestione clinica e fattori molecolari associati con lo sviluppo di eventi avversi legati alla risposta immunitaria in pazienti affetti con cancro trattati con inibitori PD-1 e PD-L1: uno studio prospettico osservazionale
Università Politecnica delle Marche - Polo Didattico
Istituto di Clinica Medica

Greater London
LONDON
The genetic basis and pathophysiology of dyskeratosis congenita, aplastic anaemia, myelodysplasia and related disorders. Study of the genes DKC1, TERC, TERT, TIN2, NOP10, NHP2, C16orf57 and TCAB1 and new gene discovery
Barts and The London School of Medicine and Dentistry
Centre for Paediatrics

Andalucía
SEVILLA
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

Castilla - León
SORIA
In depth evaluation of structural alterations of the immune system in CVID patients by >35 color NGF and WES: impact on diagnostic and prognostic classification
Fundación del Instituto de Estudios de Ciencias de la Salud de Castilla y León

Cataluña
BARCELONA
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

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

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

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

Cataluña
ESPLUGUES DE LLOBREGAT
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 investigación en Neurogenética y Medicina Molecular

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

Cataluña
L'HOSPITALET DE LLOBREGAT
Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge
Unidad de Genética Molecular

Cataluña
L'HOSPITALET DE LLOBREGAT
Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Cáncer Hereditario

Cataluña
L'HOSPITALET DE LLOBREGAT
Thyroid alterations in patients with an inherited defect of the miRNA biogenesis machinery
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de Cáncer Hereditario

Madrid
MADRID
Characterizing early events driving carcinogenesis in constitutional mismatch repair deficiency (CMMRD) syndrome as a potential strategy for precision surveillance and prevention
Hospital Universitario 12 de Octubre
Servicio de Inmunodeficiencias, Lactantes y Pediatría General

Madrid
MADRID
Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III
Centro de Investigación Biomédica en Red de Enfermedades Raras

Madrid
MADRID
A comprehensive attempt to decipher the (epi)genetic, phenotypic and functional bases of B cell impairment in antibody deficiencies, for improved prognosis and management of patients
IdiPAZ - Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Fundación para la Investigación Biomédica del H.U. La Paz

Madrid
MADRID
Somatic mutations in patients with common variable immunodeficiency (CVID) and their implications in diagnosis and treatment
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre

Madrid
MADRID
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 investigación en enfermedades raras, mitocondriales y neuromusculares

Murcia
MURCIA
Scrutiny of medications for the treatment of patients with repositioning dyskeratosis congenita
Universidad de Murcia

Washington
ADDRESS: NOT PROVIDED - US
Tnf-receptors and programmed cell death in regulation of autoimmunity
Institution: Information not provided - US

Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet
Department of laboratory medicine (LABMED)

Suisse Alémanique
BERN
Genetic and immunological pathophysiology of primary humoral immunodeficiencies
SNSF Head Office
SNSF - Swiss National Science Foundation

Suisse Romande
LAUSANNE
Genetic and immunological pathophysiology of primary humoral immunodeficiencies
Centre Hospitalier Universitaire Vaudois CHUV
Service d'immunologie et allergie

ANTWERPEN
EDEGEM (ANTWERPEN)
Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Antwerp University Hospital - UZA
Pediatric neurology/Kinderneurologie

ANTWERPEN
EDEGEM (ANTWERPEN)
GAGA: Identification of Gait Disorders in Children, Adolescents and Young Adults With Rare Genetic Diseases
Antwerp University Hospital - UZA
Pediatric neurology/Kinderneurologie

HAINAUT
GOSSELIES
RIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

HAINAUT
GOSSELIES
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

VLAAMS BRABANT
LEUVEN
Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven

Alberta
EDMONTON
Indentification and characterization of Merlin interacting proteins
University of Alberta
Department of Medical Genetics

Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

Ontario
TORONTO
Molecular Determinants of Li-Fraumeni Syndrome Associated Cancers
Hospital for Sick Children, Research Institute

Québec
MONTRÉAL
Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
The Douglas Research Centre
Human Neuroscience

KOREA, REPUBLIC OF
SEOUL
Development of cell and gene therapy for blood disorders, in particularly Gaucher and Blackfan-Diamond diseases
Seoul National University Hospital
Molecular Diagnostics Laboratory

Finland
TURKU
Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine

AUVERGNE-RHONE-ALPES
PRAGUE
Pig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

CENTRE-VAL DE LOIRE
ORLÉANS
CliNeF1 : First preclinical validation of LOOK / ROCK inhibitors for the treatment of neurofibromatosis type 1
UPR4301 Centre de biophysique moléculaire (CBM)
Equipe signalisation cellulaire et neurofibromatose

CENTRE-VAL DE LOIRE
TOURS
Study of New Potential Biomarkers of Lymphangioleiomyomatosis: Determination of Cathepsin K, Cystatin C, Collagen Telopeptides and Chondroitin Sulfates
CHRU de Tours - Hôpital Bretonneau
Service de Pneumologie et explorations fonctionnelles respiratoires

GRAND-EST
STRASBOURG
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

ILE-DE-FRANCE
CRÉTEIL
Pharmacological approaches for the treatment of NF1 bone manifestations
Hôpitaux Universitaires Henri Mondor
CHU Henri Mondor

ILE-DE-FRANCE
PARIS
Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Système et d'Organe

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

ILE-DE-FRANCE
PARIS
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies - FR
CHU Paris - Hôpital Robert Debré
Service d'Hématologie biologique

ILE-DE-FRANCE
PARIS
Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1-FR
ENS - École Normale Supérieure
Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024

ILE-DE-FRANCE
PARIS
RIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat
Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

ILE-DE-FRANCE
PARIS
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

ILE-DE-FRANCE
PARIS
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

ILE-DE-FRANCE
PARIS
From leukocyte migration dysfunction to phenotypic drug discovery in Ataxia Telangiectasia
Hôpital Necker-Enfants Malades
Immune Cell Dynamics Lab

ILE-DE-FRANCE
PARIS
Molecular, cellular, and immunological studies of inherited human CARMIL2 deficiency
IMAGINE - Institut des Maladies Génétiques
Human Genetics of Infectious diseases

ILE-DE-FRANCE
PARIS
Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging.
Institut Pasteur
Cellules souches et Développement - CNRS UMR3738

ILE-DE-FRANCE
PARIS
Modeling Rubinstein Taybi Syndrome Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies.
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216

ILE-DE-FRANCE
PARIS
Modeling Rubinstein-Taybi Syndrome: Functionalization of a Rare Monogenic Disease and Therapeutic Potential of Stress Response Pathways in Neuropathies
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216

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

OCCITANIE
TOULOUSE
RIBODBA: Blackfan-Diamond anemia: molecular mechanisms of a ribosomal disease
Université Paul Sabatier
Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099

OCCITANIE
TOULOUSE
DEVDBA: Ontogeny as a critical determinant of DBA sensitivity in red blood cells - FR
Université Toulouse III
Unité de biologie Moléculaire, cellulaire et du développement

Baden-Württemberg
FREIBURG
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

Baden-Württemberg
FREIBURG
RIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

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

Baden-Württemberg
HEIDELBERG
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies -DE
GeneWerk GmbH

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

Baden-Württemberg
HEIDELBERG
ADDRess LFS: recording and optimizing psychosocial care for persons with Li-Fraumeni syndrome and their relatives in the context of the intensified screening and follow-up program
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe

Baden-Württemberg
STUTTGART
Survey on return to work, quality of life and long-term survival in patients with thyroid cancer (ALSi) - a multicenter prospective study.
Klinikum Stuttgart - Katharinenhospital
Klinik für Nuklearmedizin

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

Hessen
FRANKFURT AM MAIN
Phase IV Study: Status of the growth hormone/ insulin-like growth factor-1 axis in relation to growth failure, body weight and neuroprotection in children with Ataxia Telangiectasia
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

Hessen
FRANKFURT AM MAIN
Neurofilament Light- Chain as Biomarker for Neurodegeneration in Ataxia Telangiectasia
Universitätsklinikum Frankfurt
Schwerpunkt Allergologie, Pneumologie und Mukoviszidose

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

Mecklenburg-Vorpommern
ROSTOCK

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

Niedersachsen
HANNOVER
ADDRess LFS: recording and optimizing psychosocial care for persons with Li-Fraumeni syndrome and their relatives in the context of the intensified screening and follow-up program
Medizinische Hochschule Hannover
Klinik für Pädiatrische Hämatologie und Onkologie

Nordrhein-Westfalen
AACHEN
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome -DE
Rheinisch-Westfälische Technische Hochschule Aachen
Joint Research Center for Computational Biomedicine

Nordrhein-Westfalen
AACHEN
Identification of molecular causes of human growth retardation in patients with features of Silver-Russell syndrome
Universitätsklinikum Aachen
Institut für Humangenetik

Nordrhein-Westfalen
DÜSSELDORF
2020-2019-HUM-ADULT: Characterisation of the clinical picture of adults with rare genetic syndromes
Heinrich-Heine-Universität Düsseldorf
Institut für Humangenetik

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

Nordrhein-Westfalen
KÖLN
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

Nordrhein-Westfalen
MÜNSTER
Immune cell profiles in the blood of children, adolescents and adults with tuberous sclerosis complex disease and their correlation with organ manifestations and treatment response to immunotherapy with mTOR inhibitors
Universitätsklinikum Münster
Klinik für Neurologie mit Institut für Translationale Neurologie

Saarland
HOMBURG
German Renal Cell Tumor Network: Molecular and clinical characterization of papillary renal cell carcinoma type II
Universitätsklinikum des Saarlandes
Klinik für Urologie und Kinderurologie

LAZIO
ROMA
Effetto del fondatore nelle muatazioni del gene ATM in famiglie italiane affette da Atassia Teleangiectasia
A.O. S. Andrea
Servizio di Genetica Medica

LAZIO
ROMA
Studio della patogenesi dei fenomeni autoimmune nelle immunodeficienze primitive
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

LAZIO
ROMA
Caratterizzazione clinica e molecolare di sindromi genetiche con cardiopatie congenite
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

LAZIO
ROMA
Pediatric ataxias and public health: epidemiological studies and disease registry, development of multi-level informatics platform for clinicians and family, and implementation of guidelines for diagnosis, management and care within the national health system
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Prevenzione delle Malattie e la Promozione della Salute

LAZIO
ROMA
La Drosophila come organismo modello per lo studio della Nijmegen Breakage Syndrome e delle malattie ad essa correlate
Sapienza Università di Roma
Dipartimento di Genetica e Biologia Molecolare

LOMBARDIA
CUSANO MILANINO
Trasferimento delle nuove tecnologie nella diagnosi corrente di malattie genetiche rare a meccanismi eziopatogenetici multipli
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare

LOMBARDIA
MILANO
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)

LOMBARDIA
MILANO
TREAT-SGS: Sviluppo e test preclinico in modelli cellulari umani e in topi transgenici di un nuovo trattamento per la sindrome di Schinzel-Giedion - IT
IRCCS Ospedale San Raffaele
Divisione di Neuroscienze

LOMBARDIA
MILANO
Production of vectors for gene therapy (Wiskott-Aldrich Syndrome and Metachromatic Leukodystrophy)
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Istituto San Raffaele Telethon per la Terapia Genica

LOMBARDIA
MILANO
Sindrome di Wiskott-Aldrich: caratterizzazione dei difetti immunologici e studi preclinici di terapia genica
Istituto San Raffaele Telethon per la Terapia Genica - TIGET
Unità di Ricerca Clinica

LOMBARDIA
MILANO
TREAT-SGS: Sviluppo e test preclinico in modelli cellulari umani e in topi transgenici di un nuovo trattamento per la sindrome di Schinzel-Giedion - IT
Università degli Studi di Milano Bicocca
Uiniversità degli Studi di Milano Bicocca

LOMBARDIA
MILANO
Sbilanciato rapporto tra eccitazione e inibizione nell'atassia telangectasia e prospettive d'intervento terapeutico
Università degli Studi di Milano-Biotecnologie Mediche e Medicina Traslazionale
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale - Laboratorio Interdisciplinare di Tecnologie Avanzate (LITA)

PIEMONTE
NOVARA
L'inibizione di DGK-alfa accende un nuovo interruttore che determina il destino cellulare dei linfociti T attivati: implicazioni per la terapia di XLP1
Università degli Studi del Piemonte Orientale
Centro Interdisciplinare di Ricerca sulle Malattie Autoimmuni

PIEMONTE
NOVARA
L'inibizione di DGK-alfa accende un nuovo interruttore che determina il destino cellulare dei linfociti T attivati: implicazioni per la terapia di XLP1
Università degli Studi del Piemonte Orientale
Dipartimento di Scienze Mediche

PUGLIA
SAN GIOVANNI ROTONDO
Screening per carcinoma midollare della tiroide e studio del genotipo nelle forme familiari
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

Østlandet
OSLO
A feasibility study to inform an RCT to evaluate an online psychosocial intervention for young people with apperarance-altering conditions (YP Face it): a Norwegian pilot
Oslo University Hospital, Rikshospitalet
SSD - Senter for sjeldne diagnoser

Østlandet
OSLO
Effectiveness and safety of mTOR-inhibitor in patients with tuberous sclerosis complex
Oslo University Hospital, Ullevaal
NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

Noord-Holland
AMSTERDAM
Keloid formation in Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica

Noord-Holland
AMSTERDAM
Causes of Rubinstein-Taybi Syndrome
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde

Utrecht
ADDRESS: NOT PROVIDED - NL
Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- NL
Institution: Information not provided - NL

Kraków
ADDRESS: NOT PROVIDED - PL
Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1- PL
Institution: Information not provided - PL

Cataluña
BADALONA
A patient centered research: awareness of patients needs, clinical phenotyping and molecular parthenogenesis in neurofibromatosis type 2
Hospital Germans Trias I Pujol
Unidad de Genómica Clínica

Cataluña
BADALONA
Personalized medicine in Neurofibromatosis type 2: improving the genetic diagnosis, the evaluation of the quality of life and the generation of schwannoma iPSC-derived cell model
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Cataluña
BADALONA
Impact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Cataluña
BARCELONA
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 investigación en Síndromes de reparación del DNA y predisposición al cáncer

Cataluña
BARCELONA
A patient centered research: awareness of patients needs, clinical phenotyping and molecular parthenogenesis in neurofibromatosis type 2
Universitat de Barcelona. Facultat de Medicina
Grupo de investigación en Bases celulares y Moleculares de los Trastornos Sensoriales

Cataluña
ESPLUGUES DE LLOBREGAT
New approaches for the identification and functional characterization of prognostic genetic biomarkers in inherited childhood myelodysplastic/acute leukemia syndromes
Hospital Sant Joan de Déu Barcelona
Servicio de Oncología y Hematología

Cataluña
L'HOSPITALET DE LLOBREGAT
New approaches for the identification and functional characterization of prognostic genetic biomarkers in inherited childhood myelodysplastic/acute leukemia syndromes
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Grupo de investigación en Biología de células madre hematopoyéticas y leucemogénesis

Comunidad Valenciana
VALENCIA
New approaches for the identification and functional characterization of prognostic genetic biomarkers in inherited childhood myelodysplastic/acute leukemia syndromes
Hospital Universitario y Politécnico La Fe
Servicio de Hematología y Hemoterapia

Madrid
MADRID
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan anemia: Preclinical safety and efficacy studies - ES
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

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

Madrid
MADRID
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan anemia: Preclinical safety and efficacy studies - ES
Hospital Materno Infantil Gregorio Marañón
Servicio de Oncología y Hematología Pediátricas y del Adolescente

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

País Vasco
BARAKALDO
Novel treatments for primary immunodeficiencies with defects in NK cells: from stem cell therapy to gene editing
Instituto de Investigación sanitaria Biocruces Bizkaia

Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Phenotypic assay design and development for rare and neglected diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule that act on gsp; the etiologic mutation responsible for fibrous dysplasia/mccune-albright syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Use of rapamycin for the treatment of hypertrophic cardiomyopathy in patients with leopard syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Functional and translational studies of runx1 and cbfb in hematopoiesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Gene therapy approaches for primary immunodeficiencies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Hematopoietic stem cell biology
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular and clinical studies of primary immunodeficiencies
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Red cell biology
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanotransduction and the regulation of skeletal muscle mass
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Programmed cell death in regulation of autoimmunity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Elucidating the neuropathophysiology of tsc using genetically engineered human neurons
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Filamin a in tsc
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of synapse remodeling in tsc
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Functional and anatomical characterizations of retinal ganglion cell degeneration in a murine model of Neurofibromatosis type 1
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Clinical and translational studies of RUNX1 and FPD
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Optical Genome Mapping (OGM) for Concurrent Genetic and Epigenetic Diagnosis of Inborn Disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Redox Signaling in Neurofibromatosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of change with early intervention in Tuberous Sclerosis Complex
Institution: Information not provided - US

Region Skåne
LUND
DEVDBA: Ontogeny as a critical determinant of DBA sensitivity in red blood cells - SE
Lunds Universitet
Department of Clinical Sciences (IKVL)

Region Stockholm
HUDDINGE
Unraveling the mechanisms for development of primary immunodeficiency using experimental models (Wiskott-Aldrich syndrome and X-linked severe congenital neutropenia)
Karolinska Institutet
Department of laboratory medicine (LABMED)

Region Västra Götaland
GÖTEBORG
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - SE
Göteborgs Universitet
Department of Chemistry & Molecular Biology

Suisse Alémanique
SCHLIEREN
Hematopoietic Stem Cell Gene Therapy for treatment of Ataxia telangiectasia (A-T)
Institute for Regenerative Medicine
Department Gene and Cell Therapy

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

Suisse Romande
GENÈVE
Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève
Département de Génétique et Evolution

WIEN
WIEN
MesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Gastroenterologie und Hepatologie

WIEN
WIEN
MesaCapp: Mesalamine for Colorectal Cancer Prevention in Lynch Syndrome - AT
Allgemeines Krankenhaus der Stadt Wien
Universitätsklinik für Chirurgie

Finland
HELSINKI
Mechanisms of tumor predisposition in colorectal cancer syndromes stratified by mismatch repair status
University of Helsinki
Department of Medical and Clinical Genetics

Nordrhein-Westfalen
AACHEN
Aberrant imprinting in humans: Application of genomewide approaches to better understand imprinting regulation and its disturbances
Universitätsklinikum Aachen
Institut für Humangenetik

Nordrhein-Westfalen
BONN
CADLY: Real-time use of automated intelligence (CADEYE) in colorectal cancer surveillance of patients with Lynch syndrome.
Universitätsklinikum Bonn (AöR)
Medizinische Klinik und Poliklinik I - Allgemeine Innere Medizin

LAZIO
ROMA
Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

Zuid-Holland
LEIDEN
Establishing the unbiased risk of cancer development, finding cancer risk modifiers and improving detection of MSH6 mutation carriers
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

Zuid-Holland
LEIDEN
Mosaic APC mutations in patients with mild polyposis phenotypes
LUMC - Leids Universitair Medisch Centrum
Afdeling Klinische Genetica

SUL
LISBOA
Prognostic Signatures in Colorectal Cancer (PSCC).
Faculdade de Medicina da Universidade de Lisboa
Unidade de Investigação em Oncologia Clínica Aplicada

Hampshire
SOUTHAMPTON
Imprinting Disorders Finding Out Why (observational clinical study, mutation search - PLAGL1, ZFP57 and IGF2 genes) and genotype-phenotype correlation)
Faculty of Medicine - University of Southampton
Human Genetics

Cataluña
BARCELONA
Germline predisposition to serrated polyposis syndrome: functional characterization of candidate genes by CRISPR/CAS and organoid modeling
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en Predisposición genética al cáncer gastrointestinal

South Dakota
SIOUX FALLS
The cellular functions of Notch signaling that prevent the renal cysts associated with the Alagille Syndrome and Hadju-Cheney Syndrome
Sanford Research
Surendran Lab

South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab

Washington
ADDRESS: NOT PROVIDED - US
Exome sequencing in diverse populations in colorado & oregon
Institution: Information not provided - US
Progetti di ricerca multicentrici
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
- Institution: Information not provided - NL
- Institution: Information not provided - ES
- Université de Liège
- Centre d'Immunologie de Liège
- Montreal Neurological Institute and Hospital
- McGill University
- ENS - École Normale Supérieure
- Institut de Biologie de l'École Normale Supérieure (IBENS) - CNRS UMR8197 / Inserm U1024
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Université Paul Sabatier
- Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099
- CECAD Research Center
- Exzellenzcluster CECAD in der Universität zu Köln
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Istituto San Raffaele Telethon per la Terapia Genica
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Unità di Ricerca Clinica
- University of Trento
- Chromatin & Epigenetics Laboratory
- Institution: Information not provided - PL
- Department of Health
- CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
- Terapias innovadoras en el sistema hematopoyético
- Hospital Universitario Fundación Jiménez Díaz
- Allgemeines Krankenhaus der Stadt Wien
- Klinische Abteilung für Gastroenterologie und Hepatologie
- Erasmus MC - Erasmus Medisch Centrum
- Afdeling Klinische Genetica

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

Utrecht
ADDRESS: NOT PROVIDED - NL
NIRBTEST: New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles

Madrid
ADDRESS: NOT PROVIDED - ES
i-PAD: Integrative Multi-Omics Analysis of Primary Antibody Deficiency (PAD) Patients for Stratification

LIEGE
LIEGE
EUROTHYMAIDE: understanding the mechanisms underlying the development of autoimmune diseases, by exploring the major biological functions of the thymus

Québec
MONTRÉAL
TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome

ILE-DE-FRANCE
PARIS
Development of effective strategies for treatment of cutaneous neurofibromas in Neurofibromatosis type 1

ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - improving health care and social support for patients and family affected by severe genodermatoses

OCCITANIE
TOULOUSE
RIBOEUROPE: The European Ribosomopathy Consortium

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

LOMBARDIA
MILANO
DEVDBA: Ontogeny as a critical determinant of DBA sensitivity in red blood cells

LOMBARDIA
MILANO
CELL-PID: advanced cell-based therapies for the treatment of primary immunodeficiency

TRENTINO ALTO ADIGE
POVO
Chrom_rare: Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions

Kraków
ADDRESS: NOT PROVIDED - PL
EPISTOP: Long-term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy - tuberous sclerosis complex

Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway

Madrid
MADRID
DBAGenCure: Lentiviral-mediated gene therapy for Diamond Blackfan Anemia: Preclinical Safety and Efficacy Studies

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

WIEN
WIEN
MesaCapp: Mesalamine for Colorectal Cancer Prevention Program in Lynch syndrome.

Zuid-Holland
ROTTERDAM