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Funded by an IRDiRC member = Member of a ERN =

Research projects

CANADA

Ontario
OTTAWA, ONTARIO

Funded by an IRDiRC memberDetection and simulation of femoroacetabular impingement
University of Ottawa
School of Electrical Engineering and Computer Science (EECS)

UNITED KINGDOM

Essex
LONDON

Natural history and management in Craniosynostoses syndromes
Great Ormond Street Hospital
Clinical Genetics

AUSTRIA

TIROL
INNSBRUCK

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

AUSTRIA

WIEN
ADDRESS: NOT PROVIDED - AT

AUSTRIA

WIEN
WIEN

Endothelial senescence in progeria
Medizinische Universität Wien
Institut für Medizinische Chemie und Pathobiochemie

BELGIUM

OOST-VLAANDEREN
GENT

BELGIUM

VLAAMS BRABANT
LEUVEN

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

CANADA

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

CANADA

Colombie-Britannique
VANCOUVER

Funded by an IRDiRC memberCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Ontario
KINGSTON

Funded by an IRDiRC memberIIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium -CA
Queen's University
Department of Biomedical and Molecular Sciences

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberPathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

CANADA

Ontario
TORONTO

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

FINLAND

Finland
TURKU

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

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
Service d'endocrinologie et de diabétologie pédiatriques et maladies héréditaires du métabolisme

FRANCE

AUVERGNE-RHONE-ALPES
MULHOUSE

Funded by an IRDiRC memberBioCaps: Programmed drug release by rolled-up biopolymer capsules - FR
Université de Haute-Alsace (UHA) - Campus Illberg
Institut de Science des Matériaux de Mulhouse (IS2M) - UMR7361 CNRS / UHA

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberNeurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

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

FRANCE

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

FRANCE

ILE-DE-FRANCE
PARIS

Schwartz-Jampel syndrome and perlecan deficiency: test of new chemical therapeutic approaches on patients cells and study of physiopathological mechanisms in murine model
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Bases moléculaires, physiopathologie et traitement des maladies neurodégénératives"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCE

NORMANDIE
CAEN

Genetic lesions of the GS alpha protein (GNAS1) in Albright osteodystrophy and pseudohypoparathyroïdism type 1A and 1B
Faculté de médecine de Caen
Mobilités : Attention, Orientation et Chronobiologie (COMETE)

FRANCE

PAYS DE LA LOIRE
NANTES

Funded by an IRDiRC memberFROGH : 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

GERMANY

Bayern
MÜNCHEN

Funded by an IRDiRC memberTREAT-HGPS: Exploring new therapeutic strategies in Hutchinson-Gilford progeria syndrome preclinical models (partner no 4)
Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein
Klinik und Poliklinik für Dermatologie und Allergologie der TU München

GERMANY

Berlin
BERLIN

Funded by an IRDiRC memberCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

GERMANY

Saarland
HOMBURG

Visual impairment and blindness in multiple-handicapped children
Universitätsklinikum des Saarlandes
AG Kinder- & Neuroophthalmologie

GERMANY

Sachsen
LEIPZIG

High-throughput mutation analysis for known and novel single-gene causes of kidney stones and related disorders
Universitätsklinikum Leipzig AöR
Klinik und Poliklinik für Endokrinologie, Nephrologie, Rheumatologie

GERMANY

Sachsen-Anhalt
MAGDEBURG

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

ITALY

ABRUZZO
L'AQUILA

Transfer strategy microparticles for the treatment of osteoporosis-induced deficits in RANKL (Receptor Activator of NF-kB Ligand)
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALY

EMILIA ROMAGNA
BOLOGNA

Mutations analysis of EXT genes and expression profiling in italian families with hereditary multiple exostoses (EXT) and related pathologies and syndromes
Istituto Ortopedico Rizzoli - Centro di Ricerca e Poliambulatorio
Laboratorio di Genetica Molecolare - S.S.D. di Genetica Medica e Malattie Rare Ortopediche

ITALY

LAZIO
ROMA

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
Servizio Clinico di Consulenza Genetica

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberA novel approach to the understanding and treatment of Hutchinson-Gilford Progeria Syndrome
Istituto FIRC di Oncologia Molecolare
Dipartimento di Oncologia Molecolare

JAPAN

JAPAN
AICHI

JAPAN

JAPAN
HIROSHIMA

Funded by an IRDiRC memberDevelopment of anti-mineralization drug
Hiroshima University Graduate School of Biomedical and Health Sciences

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberEstablishment of disease models, analysis of pathomechanism and drug discovery for achondroplasia
Center for iPS Cell Research and Application, Kyoto University
Department of Cell Growth and Differentiation

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDevelopment of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

JAPAN

JAPAN
TOKYO

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of Novel ALK2 Inhibitor for FOP
Graduate School of Medicine, The University of Tokyo

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberDevelopment of a novel therapy for achondroplasia with anti-FGF2 aptamer
RIBOMIC Inc.
Research and Development Division

NETHERLANDS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

NORWAY

Østlandet
NESODDTANGEN

The Norwegian Adult Achondroplasia Study
Sunnaas Sykehus HF
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
NESODDTANGEN

Fysisk form og aktivitetsvaner hos voksne med akondroplasi
Sunnaas Sykehus HF
TRS kompetansesenter for sjeldne diagnoser

NORWAY

Østlandet
OSLO

Marfans syndrom og søvnapné
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

SPAIN

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

SPAIN

País Vasco
BARAKALDO

Funded by an IRDiRC memberNew concept for the treatment of osteogenesis imperfecta: a pharmacological approach
Instituto de Investigación sanitaria Biocruces Bizkaia
Grupo de investigación en células madre y terapia celular

SWEDEN

Region Stockholm
HUDDINGE

Genetic mechanisms in progeria
Karolinska Institutet - Huddinge
Department of Biosciences and Nutrition

SWEDEN

Region Västra Götaland
GÖTEBORG

Targeting the CAAX protein processing enzymes in the treatment of progeria
Göteborg University
Department of Molecular and Clinical Medicine

UNITED KINGDOM

Cambridgeshire
HINXTON

The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER

UNITED KINGDOM

Greater London
LONDON

The genetic causes of Nephrotic syndrome
Evelina London Children's Hospital
Paediatric Nephrology

UNITED STATES

South Dakota
SIOUX FALLS

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTargeting tumors with nf1 loss
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberTherapeutics for rare and neglected diseases - science
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberBmp inhibitors to treat fibrodysplasia ossificans progressiva
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical and molecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIn vivo gene targeting to treat inherited bone disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInnate immune regulation of stem cells in bone formation
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberSocial competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical; pathophysiologic and therapeutic studies
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCollagen-related diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberComponents and kinetics in exocytosis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDevelopmental studies in the skeletal dysplasias
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic bone disorders-autosomal recessive oi
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular studies in the skeletal dysplasias
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberProject 1: the role of wnt1 signaling in osteogenesis imperfecta
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHeritable disorders of connective tissue
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberThe role of Glypican-6 in Recessive Omodysplasia
Sunnybrook Health Sciences Centre
Sunnybrook Research Institute

GERMANY

Bayern
ERLANGEN

Identification and characterization of the pathogenetic interactions in ciliary chondrodysplasias
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut

GERMANY

Berlin
BERLIN

CLC Cl- channels and transporters in basic cellular processes and pathological states
Leibniz-Institut für Molekulare Pharmakologie
Department Physiology and Pathology of Ion Transport

ITALY

ABRUZZO
L'AQUILA

Funded by an IRDiRC memberNew therapeutic approaches to osteopetrosis
Università degli Studi dell'Aquila - Coppito 2
Laboratorio di Biopatologia del Tessuto Osseo

ITALY

LIGURIA
GENOVA

SPAIN

Andalucía
SEVILLA

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

SWEDEN

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet - Huddinge
Division of Clinical Chemistry

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberWhat 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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic epidemiology of complex diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRegulation of gastric and osteoclast acidification by snx10
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

FRANCE

AUVERGNE-RHONE-ALPES
GRENOBLE

Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?
CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
Laboratoire de Génétique Moléculaire: maladies héréditaires et oncologie

SPAIN

Asturias
OVIEDO

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberHormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US

SPAIN

Canarias
SANTA CRUZ DE TENERIFE

Funded by an IRDiRC memberGenetic analysis of primary tubulopathies and use of a knock-in mouse to investigate a therapeutic strategy in Dent disease type 1
Unidad de Investigación del Hospital Universitario Nuestra Señora de Candelaria
Unidad de Investigación de Enfermedades renales hereditarias y alteraciones del mRNA

Multicentric Research projects