Cerca un progetto di ricerca
Altra/e opzione/i di ricerca
155 Risultato/i
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

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

TIROL
INNSBRUCK
Structure of the Neurofibromatosis Type 1 Protein
Medizinische Universität Innsbruck
Sektion für Biologische Chemie

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

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

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

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

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
NIRBTEST: New strategies to detect cancers in carriers of mutations in RB1: blood tests based on tumor-educated platelets, or extracellular vesicles - FR
Institution: Information not provided - FR

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

CENTRE-VAL DE LOIRE
ORLÉANS
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

ILE-DE-FRANCE
PARIS
Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
CHU Paris Centre - Hôpital Cochin, Site Cochin
Service de génétique et biologie moléculaires

ILE-DE-FRANCE
PARIS
Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

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
LRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

Baden-Württemberg
FREIBURG
Epigenetic analysis in patients with Primary Antibody Deficiencies
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
HEIDELBERG
ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg

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

Baden-Württemberg
ULM
GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm
Cirstea Lab

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

Hamburg
HAMBURG
GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik

Niedersachsen
GÖTTINGEN
GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen
Klinik für Thorax-, Herz- und Gefäßchirurgie

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

Nordrhein-Westfalen
DÜSSELDORF
GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf
Institut für Biochemie und Molekularbiologie II

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

Sachsen-Anhalt
MAGDEBURG
GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg
Abteilung Genetik & Molekulare Neurobiologie

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

JAPAN
AICHI
Management ofthe clinical diagnostic centre for rare intractable diseases with genome instability and development of potential therapeutic medicine
Research Institute of Environmental Medicine, Nagoya University

JAPAN
AICHI
Establishment of the Next-generation Muti-omics Clinical Diagnostic Centre for rare intractable diseases with genome instability
Research Institute of Environmental Medicine, Nagoya University

JAPAN
TOKYO
Formation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

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

TOSCANA
SIENA
Il macchinario di trasporto implicato nelle ciliopatie: un nuovo protagonista nell'assemblaggio della sinapsi immunologica nei linfociti t e un bersaglio di malattia nell'immunodeficienza comune variabile
Università degli Studi di Siena
Dipartimento di Biologia Evolutiva

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

Cataluña
BADALONA
Integrative multi-omics analysis of primary antibody deficiency (PAD) patients for stratification according to cellular pathways
IJC - Instituto de Investigación contra la Leucemia Josep Carreras, Campus HGTiP
Grupo de Epigenética y enfermedades inmunitarias

Madrid
MADRID
Bioinformatics developments based on network and systems biology to identify new candidate genes for rare genetic diseases
Fundación Jiménez Díaz
Área de Genética y Genómica

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

Washington
ADDRESS: NOT PROVIDED - US
A powerful web-based discovery platform for rare disease genetics
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
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Tnf-receptors and programmed cell death in regulation of autoimmunity
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
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

Region Stockholm
HUDDINGE
Genetic basis of immunodeficiency diseases
Karolinska Institutet - Huddinge
Department of laboratory medicine

WIEN
WIEN
Novel immunodeficiency unravels immune homeostasis mechanism
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS
Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Universitair Ziekenhuis Brussel
Pediatric neurology / Neurologie Kinderen

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

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

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

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

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

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
Klinikum der Johann Wolfgang Goethe-Universität 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

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

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

JAPAN
CHIBA
Evidence creation through nationwide surveillance of the progeria syndrome Werner syndrome and establishment ofa case registration system
Graduate School of Medicine, Chiba University

JAPAN
MIYAGI
Pathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAN
NAGASAKI
Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University
Department of Human Genetics

JAPAN
TOKYO
Study of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPAN
TOKYO
Development of RAS-related ALPS-like disease (RALD) therapy
Tokyo Medical and Dental University
Pediatrics and Developmental Biology

JAPAN
TOKYO
Screening of novel therapeutics for intellectual disability and autism in tuberous sclerosis complex
Tokyo Metropolitan Institute of Medical Science
Department of Brain Development and Neural Regeneration

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
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
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
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

Devon
EXETER
The Fundamentals of Phagocytosis: Integrating Theoretical Models and Experiments
University of Exeter, Physics building
Department of Physics and Astronomy

Andalucía
MÁLAGA
Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

Andalucía
SEVILLA
Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

Andalucía
SEVILLA
Identification of new molecular mechanisms leading to Hirschsprung disease and thyroid cancer, through a multiomic approach and correction of disease-associated phenotypes by gene editing
IBIS - Instituto de Biomedicina de Sevilla
Grupo de genética clínica y medicina genómica

Cataluña
BELLATERRA
New assay based on synthetic lethality for the functional analysis of variants of uncertain significance in breast cancer / familial ovary associated genes
Universitat Autònoma de Barcelona
Grupo de inestabilidad genómica y reparación del DNA

Cataluña
ESPLUGUES DE LLOBREGAT
Characterize the behaviours and identify patterns of paediatric rare tumours
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Patients Engagement in Research Area

Madrid
MADRID
Preclinical studies to demonstrate the efficacy and the safety of an ex vivo gene therapy approach in Diamond Blackfan Anemia with lentiviral vectors
CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
Terapias innovadoras en el sistema hematopoyético

Madrid
MADRID
Effects of the non-peptide agonist of the thrombopoietin receptor (Eltrombopag) in the hematopoiesis of patients with Fanconi anemia
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia

Madrid
MADRID
Analysis of genetic mosaicism by NGS. Application in rare pathologies and in cellular and animal models by genetic edition
Hospital Universitario Ramón y Cajal
Servicio de Genética

País Vasco
BARAKALDO
In vitro modeling of primary immunodeficiencies with defects in NK cells
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en terapia celular, células madre y tejidos

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
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
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
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
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

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 - Huddinge
Division of Clinical Chemistry

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 Romande
LAUSANNE
Role of the Wiskott-Aldrich Syndrome Protein (WASp) in the Differentiation and Regulation of the Immune System
Centre Hospitalier Universitaire Vaudois CHUV
Service d'immunologie et allergie

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

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

Madrid
MADRID
Advanced molecular diagnosis of adenomatous polyposis type X: analysis of genetic mosaicism
Hospital Clínico San Carlos
Laboratorio de oncología molecular

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
Clinical and molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Exome sequencing in diverse populations in colorado & oregon
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The role of the brca1 and brca2 gene in the pathogenesis of breast cancer
Institution: Information not provided - US
Progetti di ricerca multicentrici
- University of British Columbia
- Maternal Infant Child and Youth Research Network
- Institut Curie
- Macromolécules et Microsystèmes en Biologie et en Medecine
- Hôpital Necker-Enfants Malades
- Service de dermatologie
- Muséum National d'Histoire Naturelle
- Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Institut de Recherche en Santé - Université de Nantes
- L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Servizio Clinico di Consulenza Genetica
- Institution: Information not provided - NL
- Department of Health
- Institution: Information not provided - ES
- Université de Liège
- Centre d'Immunologie de Liège
- CHU Paris-Sud - Hôpital de Bicêtre
- Service Hématologie Biologique
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Istituto San Raffaele Telethon per la Terapia Genica - TIGET
- Unità di Ricerca Clinica
- AOU Careggi
- Dipartimento di Chirurgia e Medicina Traslazionale
- Amsterdam UMC, locatie AMC
- Laboratorium Genetische Metabole Ziekten
- Institution: Information not provided - PL
- Great Ormond Street Hospital
- Molecular and Cellular Immunology Unit
- Birmingham Women's NHS Foundation Trust
- Medical and Molecular Genetics, Norton Court
- University of Birmingham
- Department of Medical and Molecular Genetics
- Universitat Autònoma de Barcelona
- Grupo de inestabilidad genómica y reparación del DNA
- CIEMAT - Centro de Investigaciones Energéticas Medioambientales y Tecnológicas
- Terapias innovadoras en el sistema hematopoyético
- Allgemeines Krankenhaus der Stadt Wien
- Klinische Abteilung für Gastroenterologie und Hepatologie
- CHU de Marseille - Hôpital de la Timone
- Consultations de génétique prénatale et postnatale
- Institution: Information not provided - NL
- Erasmus MC - Erasmus Medisch Centrum
- Afdeling Klinische Genetica

Colombie-Britannique
VANCOUVER
Maternal Infant Child and Youth Research Network (MICYRN)

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

ILE-DE-FRANCE
PARIS
Réseau sur les neurofibromatoses

ILE-DE-FRANCE
PARIS
STaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy

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

PAYS DE LA LOIRE
NANTES
FROGH : FRench Regional Origins in Genetics for Health

LAZIO
ROMA
UnRareNet: network multicentrico di ricerca per le malattie rare non diagnosticate (terminato)

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

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

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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Réseau sur les maladies génétiques rares de l'érythropoïèse et de la membrane érythrocytaire

Nordrhein-Westfalen
AACHEN
EUCID.net: European Congenital Imprinting Disorders Network

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

TOSCANA
FIRENZE
Multiple Endocrine Neoplasia Network

Noord-Holland
AMSTERDAM
EuroDBA: European Diamond-Blackfan Anemia Consortium

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
WASHSCGENETHERAPY: Preclinical studies in mouse hematopoietic stem cells for gene therapy of Wiskott-Aldrich Syndrome

West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource

West Midlands
BIRMINGHAM
National Autozygosity Mapping Resource

Cataluña
BELLATERRA
Spanish Fanconi Anemia research network

Madrid
MADRID
Spanish Fanconi Anemia research network

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

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
National network on familial adenomatous polyposis and familial gastrointestinal tumors

Utrecht
ADDRESS: NOT PROVIDED - NL
TRANsIBCCS : Development of a Comprehensive Risk Prediction Model for BRCA1 and BRCA2 mutation carriers

Zuid-Holland
ROTTERDAM