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Projekt badawczy
AUSTRIA
OBERÖSTERREICH
LINZ
EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.
Universitätsklinik für Kinder- und Jugendheilkunde
KANADA
Québec
MONTRÉAL
Regulation de la mineralisation du squelette et des dents par les proteines et les enzymes de la matrice extracellulaire dans le rachitisme hypophosphatemique lie a l'X et l'hypophophatasie
McGill University - Dentistry Building
Division of Biomedical Sciences
FRANCJA
ILE-DE-FRANCE
PARIS
Des dysplasies squelettiques à la synthèse des GAG : rôle de SLC10A7
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCJA
PAYS DE LA LOIRE
NANTES
Implication de la protéine ribosomale RPL13 dans la croissance osseuse
Faculté de médecine de Nantes
Physiopathologie et pharmacologie cellulaire et moléculaire
WŁOCHY
LAZIO
ROMA
Analisi del profilo molecolare delle craniostenosi umane come modello paradigmatico di alterata osteogenesi: identificazione della patogenesi molecolare finalizzata alla scoperta alla scoperta di nuovi marcatori diagnostici e di nuovi bersagli terapeutici
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
U.O.C. di Neurochirurgia Infantile
WŁOCHY
LAZIO
ROMA
Analisi del profilo molecolare delle craniostenosi umane come modello paradigmatico di alterata osteogenesi: identificazione della patogenesi molecolare finalizzata alla scoperta alla scoperta di nuovi marcatori diagnostici e di nuovi bersagli terapeutici
Università Cattolica del Sacro Cuore
Istituto di Anatomia Umana e Biologia Cellulare
NORWEGIA
Østlandet
OSLO
Genetiske faktorer ved kraniosyntose i Norge
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for kirurgisk behandling ved kraniofaciale misdannelser
SZWAJCARIA
Suisse Alémanique
BASEL
Bone prefabrication for osteonecrosis
Universitätsspital Basel
Department of Biomedicine
ZJEDNOCZONE KRÓLESTWO
Essex
LONDON
Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Novel mri methods for osteochondritis dissecans (ocd) / osteochondrosis (oc)
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Role of bcl11b in development of the craniofacial skeleton
Institution: Information not provided - US
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
ACHieve: A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia - AT
Institution: Information not provided - AT
AUSTRIA
WIEN
WIEN
RIBOEUROPE: The European Ribosomopathy Consortium - AT
AKH BT 25.3
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
AUSTRIA
WIEN
WIEN
Endothel Seneszenz in Progerie
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie
AUSTRIA
WIEN
WIEN
PROGERIA: The rarest of the rare - exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome - AT
Vienna Biocenter
Department for Medical Biochemistry of the Medical University of Vienna
BELGIA
ANTWERPEN
EDEGEM (ANTWERPEN)
Projet 101 Génomes Marfans (P101GM)
University Hospital Antwerp - UZA
Aortakliniek - UZA
BELGIA
HAINAUT
GOSSELIES
RIBOEUROPE: Le Consortium Européen de la Ribosomopathie - BE
Biopark campus
The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)
BELGIA
OOST-VLAANDEREN
GENT
Karakterisatie van genen en moleculaire mechanismen betrokken in erfelijke bindweefselziekten door het bestuderen van transgene diermodellen en menselijke weefsels
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
BELGIA
OOST-VLAANDEREN
GENT
Ontwikkeling van een geintegreerd platform voor de ontwikkeling van een meer precieze aanpak van erfelijke aandoeningen van de thoracale aorta
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
BELGIA
OOST-VLAANDEREN
GENT
Genoomwijde Epistasis studie voor cardiovasculaire ernst in Marfan syndroom (GEMS)
Centrum Medische Genetica Gent - Universitair Ziekenhuis Gent
Centrum Medische Genetica Gent / Centre for Medical Genetics Ghent
BELGIA
OOST-VLAANDEREN
GENT
Projet 101 Génomes Marfans (P101GM)
Ghent University Hospital - UZ Gent
Aorta Team Ghent
BELGIA
OOST-VLAANDEREN
GENT
ImmunAID: Consortium du projet Immunome pour les troubles auto-inflammatoires - BE
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters
BELGIA
VLAAMS BRABANT
LEUVEN
ImmunAID: Consortium du projet Immunome pour les troubles auto-inflammatoires - BE
UZ Leuven - Campus Gasthuisberg
Pediatric Rheumatology
BELGIA
VLAAMS BRABANT
LEUVEN
Moleculaire en functionele pathogenese bij NF1 en verwante aandoeningen
UZ Leuven - Campus Gasthuisberg
Centrum Menselijke Erfelijkheid - UZ Leuven
KANADA
Alberta
CALGARY
Investigating the Effects of Mutations in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Calgary Molecular Diagnostic Laboratory
KANADA
Alberta
CALGARY
Investigating the Effects of Mutations in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome
Alberta Children's Hospital
Department of Medical Genetics
KANADA
Colombie-Britannique
VANCOUVER
Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute
KANADA
Colombie-Britannique
VANCOUVER
Cellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute
KANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium -CA
Queen's University
Department of Biomedical and Molecular Sciences
KANADA
Ontario
TORONTO
Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute
FINLANDIA
Finland
HELSINKI
Clinical and genetic characteristics of early-onset osteoporosis
Folkhälsan
Folkhälsan Research Center
FINLANDIA
Finland
HELSINKI
FinnDisMice - Mouse Models for Finnish Disease Heritage
University of Helsinki
FINLANDIA
Finland
TURKU
Clinical research study on neurofibromatosis type 1 in Finland
University of Turku
Institute of Biomedicine
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
Etude génétique et moléculaire de patients atteints du syndrome de Wolcott-Rallison et d'autres diabètes néonataux
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme
FRANCJA
AUVERGNE-RHONE-ALPES
LYON
Rôle de l'épissage mineur dans le développement cérébral
CHU de Lyon HCL - GH Nord-Hôpital de la Croix Rousse
Service de neurogénétique
FRANCJA
AUVERGNE-RHONE-ALPES
PRAGUE
Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCJA
AUVERGNE-RHONE-ALPES
VILLEURBANNE
Une étude transcriptomique dans des modèles de poisson zèbre de maladies rares associées à RNU4ATAC : relier les défauts d'épissage U12 aux anomalies du développement
Université Claude Bernard Lyon 1
Centre de Recherche en Neurosciences de Lyon (CNRL), INSERM U1028, CNRS UMR 5292
FRANCJA
GRAND-EST
VANDOEUVRE LES NANCY CEDEX
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)
FRANCJA
ILE-DE-FRANCE
CRÉTEIL
Cibler les cellules souches du périoste pour améliorer la régénération et les maladies osseuses
Hôpitaux Universitaires Henri Mondor
CHU Henri Mondor
FRANCJA
ILE-DE-FRANCE
PARIS
Mise en place du diagnostic prénatal non invasif des maladies monogéniques rares et sévères
AP-HP.Centre - Université de Paris - Hôpital Cochin
Service de Médecine Génomique des Maladies de Système et d'Organe
FRANCJA
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)
FRANCJA
ILE-DE-FRANCE
PARIS
Maladies hématologiques constitutionnelles: recherche clinique, thérapeutique; biologie moléculaire
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis
Service d'hématologie pédiatrique
FRANCJA
ILE-DE-FRANCE
PARIS
Etude génotype-phénotype dans l'ostéogénèse imparfaite, recherche de variants génétiques susceptibles d'influencer la croissance, la résorption osseuse et le risque de fractures - validation du diagnostic par une analyse des gènes COL1A
Hôpital Lariboisière
Os et Cartilages
FRANCJA
ILE-DE-FRANCE
PARIS
dissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"
FRANCJA
ILE-DE-FRANCE
PARIS
FRANCJA
ILE-DE-FRANCE
PARIS
Syndrome de Schwartz-Jampel et déficit en perlecan: test de nouvelles approches thérapeutiques chimiques sur des cellules de patients et étude d'un modèle murin pour en comprendre les mécanismes physiopathologiques
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"
FRANCJA
ILE-DE-FRANCE
PARIS
Etude génétique et moléculaire de patients atteints du syndrome de Wolcott-Rallison et d'autres diabètes néonataux
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
NICE
Étude de la signalisation SYK dans les maladies inflammatoires chroniques
Centre Méditerranéen de Médecine Moléculaire
NIEMCY
Baden-Württemberg
FREIBURG
Eine prospektive, internationale, multizentrische Verlaufbeobachtungsstudie bei Patienten mit kombiniertem T-Zell Immundefekt (profound combined immunodeficiency : P-CID)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz
NIEMCY
Baden-Württemberg
FREIBURG
RIBOEUROPE: Das Europäische Ribosomopathie-Konsortium
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie
NIEMCY
Bayern
MÜNCHEN
TREAT-HGPS: Erforschung neuer therapeutischer Strategien bei präklinischen Modellen des Hutchinson-Gilford-Progerie-Syndroms (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München
NIEMCY
Bayern
MÜNCHEN
PROGERIA : Die seltenste der seltenen - nicht-kodierenden RNA-Untersuchungen in der Pathogenese des Hutchinson-Gilford-Progeria-Syndroms
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München
NIEMCY
Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung
NIEMCY
Hamburg
HAMBURG
Multizentrische prospektive Kohortenstudie zu aktuellen Behandlungsmethoden der Legg-Calvé-Perthes-Krankheit
AKK Altonaer Kinderkrankenhaus gGmbH
Fachabteilung für Kinderorthopädie
NIEMCY
Hamburg
HAMBURG
Identifizierung neuer monogener Krankheitsgene mittels Next Generation Sequencing-Technologie
UKE - Universitätsklinikum Hamburg-Eppendorf
Institut für Humangenetik
NIEMCY
Niedersachsen
GÖTTINGEN
Ein Long-Read-Genomsequenzierungsansatz zur Identifizierung bislang unbekannter Gene für Erkrankungen mit beschleunigter Alterung
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik
NIEMCY
Nordrhein-Westfalen
KÖLN
Aufklärung neuer Pathomechanismen von Knochen- und Knorpelerkrankungen FOR 2722: Neue molekulare Determinanten der Homöostase der muskuloskelettalen extrazellulären Matrix - ein systemischer Ansatz
Institut für Humangenetik am Universitätsklinikum Köln
Institut für Humangenetik
NIEMCY
Saarland
HOMBURG
PHYSPATH-KS: Verständnis der Pathophysiologie des Keutel-Syndroms: Ein Weg zur Heilung
Universitätsklinikum des Saarlandes
Institut für Experimentelle Orthopädie und Arthroseforschung
NIEMCY
Schleswig-Holstein
LÜBECK
Multizentrische prospektive Kohortenstudie zu aktuellen Behandlungsmethoden der Legg-Calvé-Perthes-Krankheit
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Klinik für Orthopädie und Unfallchirurgie - Sektion für Orthopädie
WŁOCHY
ABRUZZO
L'AQUILA
Strategia di trasferimento di microparticelle per il trattamento dell'osteopetrosi indotta da deficit di RANKL (Receptor Activator of NF-kB Ligand)
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo
WŁOCHY
EMILIA ROMAGNA
BOLOGNA
Analisi di mutazione di geni EXT e profilo di espressione in famiglie italiane affette da esostosi multiple ereditarie (EXT) e patologie e sindromi correlate
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche
WŁOCHY
LAZIO
ROMA
Studio di uno spettro limitato di mutazioni del gene soppressore SMAD4 nella Sindrome di Myhre
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica
WŁOCHY
LAZIO
ROMA
Studio di uno spettro limitato di mutazioni del gene soppressore SMAD4 nella Sindrome di Myhre
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
A.R. Genetica e Malattie Rare
WŁOCHY
LOMBARDIA
MILANO
Valutazione dei polimorfismi del recettore della vitamina D e loro coinvolgimento nell'infiammazione associata all'osteocondrosi vertebrale
I.R.C.C.S Istituto Ortopedico Galeazzi
IRCCS Istituto Ortopedico Galeazzi
WŁOCHY
LOMBARDIA
MILANO
Studio della deregolazione dipendente da Polycomb nella Sindrome di Weaver tramite l'uso di tipi cellulari neurali derivati da paziente
IRCCS Istituto Europeo di Oncologia
WŁOCHY
LOMBARDIA
MILANO
A novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare
WŁOCHY
LOMBARDIA
MILANO
PROGERIA: The rarest of the rare - exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome - IT
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare
JAPONIA
JAPAN
KYOTO
Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University
HOLANDIA
Gelderland
NIJMEGEN
TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica
HOLANDIA
Zuid-Holland
ROTTERDAM
Obstructieve slaap apneu in syndromale craniosynostose
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
HOLANDIA
Zuid-Holland
ROTTERDAM
Hersenafwijkingen in syndromale craniosynostose
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
HOLANDIA
Zuid-Holland
ROTTERDAM
Genetische oorzaken van craniofaciale aandoeningen
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
HOLANDIA
Zuid-Holland
ROTTERDAM
Verstoorde ademhaling bij craniofaciale aandoeningen
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
HOLANDIA
Zuid-Holland
ROTTERDAM
Hersendoorbloeding in relatie tot hersendruk in craniosynostose
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
NORWEGIA
Østlandet
NESODDTANGEN
Akondroplasi-studien
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORWEGIA
Østlandet
NESODDTANGEN
Fysisk form og aktivitetsvaner hos voksne med akondroplasi
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORWEGIA
Østlandet
NESODDTANGEN
Norsk studie om Marfans syndrom, del 2: Ny undersøkelse etter 10 år av voksne med antatt Marfans syndrom
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORWEGIA
Østlandet
NESODDTANGEN
Aktiv medvirkning og selvstendighet: En studie av relasjoner mellom helsepolitiske føringer og brukererfaringer
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser
NORWEGIA
Østlandet
OSLO
Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
Kirurgisk klinikk
NORWEGIA
Østlandet
OSLO
Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser
NORWEGIA
Østlandet
OSLO
Knestabilitet hos barn med kortvoksthet etter gradvis distalisering av fibulahodet
Oslo Universitetssykehus HF, Rikshospitalet
Nasjonal behandlingstjeneste for medfødte deformiteter i underekstrimiter hos barn
NORWEGIA
Østlandet
OSLO
Oversettelse og pilotutprøving av online intervensjonsprogram for ungdom
Oslo Universitetssykehus HF, Rikshospitalet
SSD - Senter for sjeldne diagnoser
PORTUGALIA
CENTRO
ADDRESS: NOT PROVIDED - PT
Understanding how membrane ether-phospholipids regulate neuron development and function to mediate neuropathophysiology of RCDP
Institution: Information not provided - PT
HISZPANIA
Cataluña
BADALONA
Impacto de la heterogeneidad celular, genética y epigenética en la progresión y el tratamiento de los tumores del sistema nervioso periférico asociados a la neurofibromatosis tipo 1
Instituto de Investigación Germans Trias i Pujol
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
HISZPANIA
Cataluña
BARCELONA
Lipodistrofia y sarcopenia en el síndrome de progeria Hutchinson-Gilford: mecanismos y papel en la progresión de la enfermedad
Universitat Pompeu Fabra. Campus del Mar
Grupo de Biología Celular
HISZPANIA
Comunidad Valenciana
SANT JOAN D'ALACANT
Nuevas aplicaciones terapéuticas a la acondroplasia
Instituto de Neurociencias de Alicante (CSIC-UMH)
Grupo de Trabajo de Plasticidad Celular en Desarrollo y Enfermedad
HISZPANIA
Madrid
MADRID
Lipodistrofia y sarcopenia en el síndrome de progeria Hutchinson-Gilford: mecanismos y papel en la progresión de la enfermedad
CNIC: Centro Nacional de Investigaciones Cardiovasculares
Fisiopatología cardiovascular molecular y genética
SZWECJA
Region Stockholm
HUDDINGE
Genetiska mekanismer vid fortidigt aldrande
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition (BioNut)
SZWECJA
Region Västra Götaland
GÖTEBORG
Modifiering av CAAX-proteiner i progeria
University of Gothenburg
Department of Molecular and Clinical Medicine
SZWAJCARIA
Suisse Romande
GENÈVE
Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève
Département de Génétique et Evolution
ZJEDNOCZONE KRÓLESTWO
Lothian
EDINBURGH
Identification of genes for Microcephalic Primordial Dwarfism (MOPD I, MOPD II, Seckel syndrome and Meier-Gorlin syndrome), and Primary Microcephaly (with short stature)
Western General Hospital
MRC Human Genetics Unit
STANY ZJEDNOCZONE AMERYKI
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
STANY ZJEDNOCZONE AMERYKI
South Dakota
SIOUX FALLS
Cellular and molecular mechanisms by which aberrant Notch signaling causes cystic kidney disease
Sanford Research
Surendran Lab
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Targeting tumors with nf1 loss
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Development of bone morphogenetic protein inhibitors to treat blood and bone disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Bmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Hutchinson-gilford progeria syndrome--a model for the genetics of aging
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular studies of malformations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
In vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Innate immune regulation of stem cells in bone formation
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Accessory membrane and intracellular mediators in bone cell mechanotransduction
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Intersection of upregulated bmp signaling & cellular mechanotransduction in fibrodysplasia ossificans progressiva (fop)
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Marfan aortic embryologic origin influences mir-29b regulators and targets
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The function of fkbp10 in osteogenesis imperfecta and bruck syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of nomid; dira and other autoinflammatory diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Clinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Collagen-related diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Components and kinetics in exocytosis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Developmental studies in the skeletal dysplasias
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic bone disorders-autosomal recessive oi
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular studies in the skeletal dysplasias
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1. proly 3-hydroxylase (p3h) complex and matrix cell signaling defects in
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2. fkbp10 chaperone complex and trafficking and organelle dysfunction in
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2: the role of the hsp47/fkbp65 chaperone complex in osteogenesis imperfecta
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3: collagen post-translational modification and cross-linking in oi
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3. collagen post-translational modification and crosslinking in human an
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Heritable disorders of connective tissue
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
High-definition infrared micro-spectroscopic imaging of biomaterials
Institution: Information not provided - US
AUSTRIA
WIEN
WIEN
NeuroLSD: Neuro-metabolic, structural and functional hallmarks of Lysosomal Storage Diseases - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Endokrinologie und Stoffwechsel
BELGIA
ANTWERPEN
EDEGEM (ANTWERPEN)
BETCON: Een multicenter gerandomiseerde gecontroleerde open-label studie van conservatieve behandeling versus minimaal invasieve behandeling met leukocyten- en bloedplaatjesrijke fibrine versus primaire chirurgie bij patiënten met nieuw gediagnosticeerde osteonecrose van de kaak - BE
University Hospital Antwerp - UZA
Nucleaire geneeskunde - UZA
KANADA
Alberta
EDMONTON
Mucopolysaccharidosis I Disease: Tools for Discovery and Design of Chaperone Therapeutics Based on Unique Enzyme Production Systems and the Elucidation of the Structure of alpha-L-Iduronidase
University of Alberta
Department of Biochemistry
KANADA
Ontario
TORONTO
iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute
KANADA
Ontario
TORONTO
The role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute
KANADA
Québec
MONTRÉAL
Mécanismes moléculaires de CdGAP, un régulateur négatif des petites GTPases oncogéniques Rac1 et Cdc42
McGill University - Dentistry Building
Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology
FRANCJA
AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Disséquer les mécanismes par lesquels différents types de cellules musculaires apparaissent dans le mésoderme cardiopharyngé postérieur.
Institution: Information not provided - FR
FRANCJA
AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Cibler le récepteur de la vitamine D pour le traitement de maladies rares induites par calcitriose
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer
FRANCJA
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
FRANCJA
GRAND-EST
VANDOEUVRE LES NANCY CEDEX
Développement d'un inhibiteur spécifique de la glycosyltransférase beta4GalT7 pour la thérapie par réduction de substrat dans les mucopolysaccharidoses : vers le stade hit to lead
Institut des sciences de l'ingénierie et des systèmes
UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)
FRANCJA
ILE-DE-FRANCE
PARIS
Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré
UF de Génétique clinique
FRANCJA
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
FRANCJA
ILE-DE-FRANCE
PARIS
Personalized non-invasive nanotherapy of Crouzon syndrome through FGFR2 gene knock-down by recombinant human ferritin-based targeted siRNA delivery -FR
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
Recherche d'un gène responsable du syndrome de Goldenhar
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
Further delineation of molecular bases of Oculo-Auriculo-Vertebral Spectrum
CHU de Bordeaux-GH Pellegrin
Laboratoire Maladies Rares : Génétique et Métabolisme (MRGM)
NIEMCY
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Deutsches Krebsforschungszentrum
KITZ - Hopp-Kindertumorzentrum Heidelberg
NIEMCY
Baden-Württemberg
HEIDELBERG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitäts-Frauenklinik Heidelberg
Frauenheilkunde und Geburtshilfe
NIEMCY
Baden-Württemberg
TÜBINGEN
ESPED-Studie: Omphalozelen und assoziierte Fehlbildungen bei Neu- und Frühgeborenen
Universitätsklinik für Kinder- und Jugendmedizin Tübingen
Abteilung für Neonatologie
NIEMCY
Bayern
MÜNCHEN
LADOMICS: Erforschung neuer Krankheitsmechanismen von LAD-I und LAD-III Immunschwächeerkrankungen mittels Multi-Omics Anwendungen
Klinikum rechts der Isar der Technischen Universität München
Klinik und Poliklinik für Innere Medizin III: Hämatologie und Internistische Onkologie
NIEMCY
Bayern
WÜRZBURG
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universität Würzburg - Biozentrum
Institut für Humangenetik
NIEMCY
Bayern
WÜRZBURG
Klinische Beobachtungsstudie: Kognitive Fähigkeiten, Entwicklung und Hörvermögen bei Patienten mit Münke-Syndrom
Universitätsklinikum Würzburg
Sektion für Pädiatrische Neurochirurgie
NIEMCY
Berlin
BERLIN
Analyse von strukturellen und nicht-kodierenden Varianten bei Patienten mit Fehlbildungen der Extremitäten
Charité - Universitätsmedizin Berlin (CVK)
Institut für Medizinische Genetik und Humangenetik
NIEMCY
Berlin
BERLIN
CLC Cl-Kanäle und Transporter in grundlegenden zellulären Prozessen und pathologischen Zuständen
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport
NIEMCY
Hessen
LANGEN
Präklinische Gentherapie von Fanconi-Anämie mit transposon-basierten Ansätzen
Paul-Ehrlich-Institut
Abteilung Medizinische Biotechnologie
NIEMCY
Nordrhein-Westfalen
DÜSSELDORF
ADDRess: Translationale Forschung für Personen mit DNA Reparaturdefekten
Universitätsklinikum Düsseldorf
Institut für Pathologie
WŁOCHY
ABRUZZO
L'AQUILA
Nuovi Approcci Terapeutici per l'Osteopetrosi
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo
WŁOCHY
ABRUZZO
L'AQUILA
Osteopetrosi Autosomica Dominante di Tipo 2 (ADO2). Siamo vicini alla cura, ma cosa ci manca?
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo
WŁOCHY
CAMPANIA
NAPOLI
Nuove strategie terapeutiche per alleviare le lesioni cutanee nella sindrome AEC
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl
WŁOCHY
EMILIA ROMAGNA
MODENA
Analisi dei geni PBX1 e EMX2 e loro coinvolgimento nello sviluppo scapolare e pelvico
Università degli Studi di Modena e Reggio Emilia
Dipartimento di Biologia animale
WŁOCHY
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
WŁOCHY
LIGURIA
GENOVA
Studi strutturali e funzionali dei complessi proteici CLC coinvolti in malattie genetiche
Consiglio Nazionale delle Ricerche
Istituto di Biofisica
WŁOCHY
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)
WŁOCHY
LOMBARDIA
ROZZANO
Dallo studio dei meccanismi molecolari patogenetici alla base delle sindromi dovute a microduplicazioni e microdelezioni del cromosoma 7q11.23 alla scoperta di trattamenti terapeutici
IRCCS Istituto Clinico Humanitas
Istituto Clinico Humanitas
WŁOCHY
VENETO
ZELARINO
Verso una nuova terapia innovativa della Sindrome di EEC attraverso il silenziamento dell'RNA allele specifico
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
WŁOCHY
VENETO
ZELARINO
Medicinali di terapia avanzata per la cura dei difetti oculari nella sindrome EEC
Fondazione Banca degli Occhi del Veneto Onlus
Dipartimento di Medicina Molecolare
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Cornelia de Lange Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
PORTUGALIA
NORTE
PORTO
Desenvolvimento de uma nova abordagem terapêutica para as Mucopolissacaridoses através da utilização da tecnologia de RNA de interferência (RNAi)
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTUGALIA
SUL
LISBOA
O estudo de mutações relacionadas com o Síndroma Antley-Bixler na oxireductase do citocromo P450: polimorfismo do CYPOR e o complexo enzimático do citocromo P450.
Centro de Investigação em Genética Molecular Humana
HISZPANIA
Andalucía
MÁLAGA
Medicina de sistemas aplicada a la identificación de nuevas dianas terapéuticas en enfermedades raras de base genética
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica
HISZPANIA
Aragón
ZARAGOZA
Redefiniendo el espectro Cornelia de Lange mediante la integración de nuevos datos clínicos, genómicos, transcriptómicos y metabolómicos
Universidad de Zaragoza. Facultad de Medicina
Laboratorio de Genética Clínica y Genómica Funcional
HISZPANIA
Cataluña
BARCELONA
Traslación de un producto de ingeniería tisular alogénico con MSC de gelatina de Wharton para el tratamiento de la osteonecrosis en pacientes oncológicos pediátricos
Vall d'Hebron Institut de Recerca VHIR
Grupo de investigación en Ingeniería Tisular Musculoesquelética
HISZPANIA
Madrid
MADRID
Efectos del agonista no peptídico del receptor de trombopoyetina (Eltrombopag) en la hematopoyesis de los pacientes con anemia de Fanconi
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
HISZPANIA
Madrid
MADRID
FANEDIT: Edición génica, una nueva estrategia terapéutica para la anemia de Fanconi - ES
Hospital Infantil Universitario Niño Jesús
Servicio de Hematología y Hemoterapia
SZWECJA
Region Stockholm
HUDDINGE
Oxysteroler vid hälsa och sjukdom
Karolinska Institutet - Huddinge
Division of Clinical Chemistry
SZWECJA
Region Stockholm
STOCKHOLM
Molekylära och funktionella studier av Scc2 och SCC4 i DNA-reparation, genreglering och Genome integritet i Cornelia de Lange syndrom
Karolinska Institutet - Solna
Department of Cell and Molecular Biology (CMB)
SZWECJA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery (MMK)
SZWAJCARIA
Suisse Alémanique
ZURICH
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - CH
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences
SZWAJCARIA
Suisse Alémanique
ZÜRICH
Molecular Basis and Pathology of Connective Tissue Disorders
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten
SZWAJCARIA
Suisse Romande
FRIBOURG
The Differential Roles of Positive Emotions and Emotion Regulation for Socio-Emotional Processes in Developmental Disabilities: Insights for Future Interventions
Universität Freiburg
Heilpädagogisches Institut
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
What dose of vitamin D is required to achieve target serum 25-hydroxyvitamin D levels in children?
Kings College School of Medicine
Guy's and St Thomas NHS Foundation Trust
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Functional characterization of a causative gene for intellectual disability
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
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
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fanconi anemia:genotype-phenotype correlations
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanistic and therapeutic studies of autosomal dominant osteopetrosis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Regulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project III: a drosophila model for cornelia de lange syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cardiac interaction networks as determinants of transcriptional specificity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fa ddr pathway in germline integrity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 1: gene networks for social cognition in williams syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 2: modeling williams syndrome using human neurons
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 3: cellular architectonics and local circuits
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 4: neuroimaging of social circuitry
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project 5: characterization of social phenotype
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project I: molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Nipbl, cohesin and related structural birth defects
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular etiology of structural birth defects in cdls
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Signaling pathways regulating oligodendrocyte development and function
Institution: Information not provided - US
AUSTRIA
WIEN
ADDRESS: NOT PROVIDED - AT
Adakveo (crizanlizumab) PRegnancy outcomes Intensive Monitoring (PRIM) - AT
Institution: Information not provided - AT
FINLANDIA
Finland
HELSINKI
Genomic editing for treating hemoglobin diseases
University of Helsinki
Stem Cells and Metabolism Research Program
FRANCJA
AUVERGNE-RHONE-ALPES
GRENOBLE
Etudes physiopathologiques du syndrome de Lowe et de la maladie de Dent, deux entités cliniques partageant une base moléculaire commune?
CHU Grenoble Alpes
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie
FRANCJA
ILE-DE-FRANCE
MONTROUGE
Hypophosphatémie liée à l'X : des mécanismes pathologiques de la minéralisation aux traitements des manifestations squelettiques
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496
FRANCJA
ILE-DE-FRANCE
PARIS
Diagnostic prénatal non invasif de la drépanocytose par séquençage nouvelle génération (NGS)
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire
FRANCJA
ILE-DE-FRANCE
PARIS
CRISPR/Cas9 mediated induction of fetal hemoglobin synthesis for the treatment of beta-hemoglobinopathies
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCJA
ILE-DE-FRANCE
PARIS
Development of Innovative Therapeutic Strategies for Beta-Hemoglobinopathies
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCJA
ILE-DE-FRANCE
PARIS
Amélioration des stratégies de thérapie génique basées sur l'utilisation des cellules souches hématopoïétiques pour le traitement des ß-hémoglobinopathies
IMAGINE - Institut des Maladies Génétiques
Institut IMAGINE - INSERM U1163
FRANCJA
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
FRANCJA
ILE-DE-FRANCE
PARIS
Modéliser le syndrome de Rubinstein-Taybi : Fonctionnalisation d'une maladie monogénique rare et potentiel thérapeutique des voies de réponses au stress dans les neuropathies
Université Paris Diderot
Unité Epigénétique et Destin Cellulaire CNRS UMR7216
NIEMCY
Berlin
BERLIN
Molekulare Genetik der autosomal-dominanten Hypertonie mit Brachydaktylie Typ E
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems
NIEMCY
Berlin
BERLIN
Epigenetische Gen- und ncRNA-Regulation in isolierten Formen von Brachydaktylie Typ E (BDE)
Max-Delbrück-Centrum für Molekulare Medizin
AG Luft - Genetik und Pathophysiologie des Herz - Kreislaufsystems
NIEMCY
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Hunter-Krankheit (BioHunt): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
NIEMCY
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Morquio-Krankheit (BioMorquio): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
NIEMCY
Mecklenburg-Vorpommern
ROSTOCK
WŁOCHY
CAMPANIA
NAPOLI
Trasferimento genetico mediato da virus adeno-associati in modelli animali di mucopolisaccaridosi VI
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca
WŁOCHY
LAZIO
ROMA
Progressi nella diagnosi della talassemia e delle emoblobinopatie: sviluppo di tecniche innovative attraverso l'uso combinato di termogravimetria e chemiometria
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
WŁOCHY
LIGURIA
GENOVA
Caratterizzazione molecolare di malattie genetico-metaboliche rare
IRCCS Istituto G. Gaslini - Ospedale Pediatrico
Centro di diagnostica genetica e biochimica delle malattie metaboliche
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Versterkte litteken vorming in Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
HOLANDIA
Zuid-Holland
ROTTERDAM
Metopica naad synostose (trigonocephalie): prenatale detectie, hersenfuncties en optimale behandeling
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
HOLANDIA
Zuid-Holland
ROTTERDAM
Is chirurgische behandeling van trigonocefalie geïndiceerd?
Erasmus MC - Erasmus Medisch Centrum
Afdeling Plastische, Reconstructieve en Handchirurgie
PORTUGALIA
NORTE
PORTO
Transporte de proteínas lisossomais por vias independentes à manose 6-fosfato: estudos moleculares, bioquímicos e funcionais
Instituto Nacional de Saúde Dr. Ricardo Jorge - Porto
Unidade de Investigação & Desenvolvimento; Departamento de Genética
PORTUGALIA
SUL
LISBOA
DESENVOLVIMENTO E VALIDAÇÃO DE PREDITORES PRECOCES DA VASO-OCLUSÃO NUM MODELO MENDELIANO DE DOENÇA VASCULAR
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética
HISZPANIA
Asturias
OVIEDO
Aplicación de RenalTube a las necesidades de los pacientes e investigación clínico-experimental sobre la acidosis tubular renal distal y el raquitismo
Fundación para la Investigación Biosanitaria del Principado de Asturias
FINBA: Fundación para la Investigación Biosanitaria del Principado de Asturias
HISZPANIA
Cataluña
BARCELONA
Medicina personalizada en pacientes con enfermedad de células falciformes basada en el diagnóstico integrado de metodologías de nueva generación
Vall d'Hebron Institut de Recerca VHIR
Vall d'Hebron Institut de Recerca
STANY ZJEDNOCZONE AMERYKI
North Carolina
CHAPEL HILL
Prospective Study in Sickle Cell Anemia: Determine Biomarkers of Endothelial Function Changes in Chronic Kidney Disease
University of North Carolina
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Preclinical innovation
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex traits
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Insights into sickle cell trait and sickle cell disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Red cell biology
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Understanding the relationships between race; ethnicity; ancestry and genomics
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neuro-ophthalmic mechanisms of disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular and cellular determinants of enthesopathy in x-linked hypophosphatemia
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Hormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Impaired bmp signaling and failed bone formation in mucopolysaccharidosis vii
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of bone disease in the mucopolysaccharidoses
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The impact of childhood chronic disease on child patient reported outcomes
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mri-based quantitative brain oxygen metabolism identifying high risk of infarct recurrence in sickle cell anemia
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Upregulation of iduronidase enzyme in mpsi disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Age-dependence of cerebral oxygen metabolism and stroke risk in pediatric sickle cell disease
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Correction of mucopolysaccharidosis type 1: targeting safe harbor loci using genome editing
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Optimizing aav vectors for central nervous system transduction
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Newborn screening for mucopolysaccharidosis (mps1) pilot study
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Aav mediated gene therapy to the cns for mps i
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neuro-histology & behavior
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project II: genomic approaches to coronal nonsyndromic craniosynostosis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Project III: systems biology of bone in coronal nonsyndromic craniosynostosis
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Sb transposons for gene therapy
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Gene therapy for metabolic disorders
Institution: Information not provided - US
AUSTRIA
WIEN
WIEN
MARS: A Multicenter, Multinational, Observational Morquio A Registry Study - AT
Allgemeines Krankenhaus der Stadt Wien
Klinische Abteilung für Pädiatrische Pulmologie, Allergologie und Endokrinologie
KANADA
Québec
MONTRÉAL
La mucopolysaccharidose de type III C comme maladie du repliement des protéines: l'utilisation de modèles animaux pour étudier la physiopathologie et explorer des solutions thérapeutiques potentielles
Centre hospitalier universitaire Sainte-Justine
Department of Medical Genetics / Département de génétique médicale
NIEMCY
Hamburg
HAMBURG
Eine multizentrische multinationale Beobachtungs/Registerstudie zu MPS IVA (MARS)
UKE - Universitätsklinikum Hamburg-Eppendorf
Klinik und Poliklinik für Kinder- und Jugendmedizin
NIEMCY
Mecklenburg-Vorpommern
ROSTOCK
Biomarker der Hurler-Krankheit (BioHurler): Ein internationales, multizentrisches, epidemiologisches Protokoll
Centogene AG
HISZPANIA
Canarias
LAS PALMAS DE GRAN CANARIA
Investigación de estrategias terapéuticas para la enfermedad de Dent-1 y adaptación de RenalTube a las necesidades de los pacientes con tubulopatías primarias
Hospital Universitario de Gran Canaria Dr. Negrín
FIISC: Fundación Canaria Instituto de Investigación Sanitaria de Canarias
HISZPANIA
Galicia
SANTIAGO DE COMPOSTELA
Estudio prospectivo de historia natural de la mucopolisacaridosis tipo IIIB (MPS IIIB)
Hospital Clínico Universitario de Santiago
Servicio de Pediatría
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Choroid plexus-mediated gene therapy for lysosomal storage disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
In vivo lentiviral gene therapy for hurler syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Phenotypic effects of brain-directed enzyme therapy for sanfilippo b syndrome
Institution: Information not provided - US
Wieloośrodkowy projekt badawczy
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Queen's University
- Department of Biomedical and Molecular Sciences
- McGill University
- Division of Endocrinology and Metabolism
- Institut de Biologie et Chimie des Protéines
- LBTI - Laboratoire de Biologie Tissulaire et Ingénierie thérapeutique
- AP-HP. Centre - Université de Paris - HEGP Hôpital Européen Georges Pompidou
- Thérapie cellulaire en pathologie cardiovasculaire
- Institut National de la Santé et de la Recherche Médicale
- Fondation René Touraine
- Institut de Recherche sur la Peau, Fondation René Touraine
- Université Paul Sabatier
- Laboratoire de Biologie Moléculaire Eucaryote - UMR 5099
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Istituto Ortopedico Rizzoli - Ospedale
- Struttura Complessa Malattie Rare Scheletriche
- IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
- Dipartimento di Medicina Pediatrica
- Fondazione IRCCS Policlinico San Matteo
- Laboratorio di Diagnostica Molecolare, Patologia Cardiovascolare e dei Trapianti
- UMC Utrecht - Universitair Medisch Centrum Utrecht
- Section Genetics
- Karolinska Institutet - Huddinge
- Department of Biosciences and Nutrition (BioNut)
- Department of Health
- CHU Sainte-Justine
- Département de pédiatrie
- Institution : Information not provided - FI
- CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
- Service d'epileptologie clinique, des troubles du sommeil et de neurologie fonctionnelle de l'enfant
- Projektträger im Deutschen Zentrum für Luft- und Raumfahrt
- ERA-Net for research programs on rare diseases - Germany
- CECAD Research Center
- Exzellenzcluster CECAD in der Universität zu Köln
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Azienda Ospedaliera Universitaria "Federico II"
- Laboratorio Dipartimento di Pediatria
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- Università Cattolica del Sacro Cuore
- IRCCS Istituto Europeo di Oncologia
- Stem cell epigenetics Unit
- Hospital Universitario Fundación Jiménez Díaz
- The Cyprus Institute of Neurology and Genetics
- Department of molecular genetics A
- Groupe hospitalier AP-HP.6 - Hôpital Tenon
- Laboratoire d'Hémostase et de Thrombose
- Institut de génétique moléculaire
- Institut de Génétique Moléculaire de Montpellier
- Universitätsklinikum des Saarlandes
- Institut für Molekulare Zellbiologie
- Universitat Autònoma de Barcelona
- Centro de biotecnología animal y de terapia genética
ZJEDNOCZONE KRÓLESTWO
Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases
NIEMCY
Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations
NIEMCY
Niedersachsen
GÖTTINGEN
CRANIRARE-2: an integrated clinical and scientific approach for craniofacial malformations
KANADA
Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia: European-Canadian Consortium
KANADA
Québec
MONTREAL,
PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure
FRANCJA
AUVERGNE-RHONE-ALPES
LYON
ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)
FRANCJA
ILE-DE-FRANCE
PARIS
MITRAL
FRANCJA
ILE-DE-FRANCE
PARIS
ImmunAID: Immunome Project Consortium for Autoinflammatory Disorders
FRANCJA
ILE-DE-FRANCE
PAROS
TAG: TogetherAgainstGenodermatoses - amélioration des soins de santé et assistance sociale pour les patients et les familles touchées par les génodermatoses sévères
FRANCJA
OCCITANIE
TOULOUSE
RIBOEUROPE: The European Ribosomopathy Consortium
NIEMCY
Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen
NIEMCY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
WŁOCHY
EMILIA ROMAGNA
BOLOGNA
Ma.Tr.OC: Identification of molecular therapeutic targets and diagnostic/prognostic biomarkers for Malignant Transformation of Osteochondromas
WŁOCHY
LAZIO
ROMA
OSTEOPETR: new genes and therapeutic approaches to osteopetrosis
WŁOCHY
LOMBARDIA
PAVIA
GIMS: Gruppo Interdisciplinare Sindrome di Marfan
HOLANDIA
Utrecht
UTRECHT
CantuTreat: Sulfonylurea drugs to treat Cantú syndrome
SZWECJA
Region Stockholm
HUDDINGE
PROGERIA: The rarest of the rare - exploring non-coding RNA in the disease pathogenesis of Hutchinson-Gilford progeria syndrome
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
KANADA
Québec
MONTRÉAL
CoHEART : Improving care for Cohesinopathies, from heart phenotypes to novel therapies
FINLANDIA
Finland
ADDRESS : NOT PROVIDED - FI
LADOMICS: Multi-omics approaches for discovery of new disease mechanisms of LAD-I and LAD-III immunodeficiencies
FRANCJA
AUVERGNE-RHONE-ALPES
BRON
NEUROPED: réseau européen de référence pour les maladies neurologiques rares en pédiatrie
NIEMCY
Nordrhein-Westfalen
BONN
European Research Area Network on Cardiovascular Diseases (ERA-CVD)
NIEMCY
Nordrhein-Westfalen
KÖLN
TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases
NIEMCY
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
WŁOCHY
CAMPANIA
NAPOLI
EUCLYD: A European consortium for Lysosomal disorders (TERMINATED)
WŁOCHY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
WŁOCHY
LAZIO
ROMA
Personalized non-invasive nanotherapy of Crouzon syndrome through FGFR2 gene knock-down by recombinant human ferritin-based targeted siRNA delivery
WŁOCHY
LOMBARDIA
MILANO
DISEASEAVATARS: Modeling Disease through Cell Reprogramming: a Translational Approach to the Pathogenesis of Syndromes Caused by Symmetrical Gene Dosage Imbalances
HISZPANIA
Madrid
MADRID
FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia
CYPR
Cyprus
NICOSIA
ITHANET: réseau euro-méditerranéen des centres de recherche conduisant des recherches moléculaire et clinique sur la thalassémie et autres formes d'hémoglobinopathies
FRANCJA
ILE-DE-FRANCE
PARIS
Réseau de recherche clinique sur la drépanocytose
FRANCJA
OCCITANIE
MONTPELLIER
BRAINCAV: vecteurs adénoviraux non-humains pour le transfert de gènes dans le cerveau, en particulier dans la mucopolysaccharidose de type 7
NIEMCY
Saarland
HOMBURG
CoMMiTMenT: Combined Molecular Microscopy for Therapy and Personalized Medication in Rare Anaemias Treatments
HISZPANIA
Cataluña
BELLATERRA