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Funded by an IRDiRC member =

Research projects

FRANCE

ILE-DE-FRANCE
PARIS

Genetic, cellular and clinical study of lipodystrophies in human
Faculté de Médecine Pierre et Marie Curie - Hôpital Saint-Antoine
Pathologies du tissu adipeux et conséquences hépatiques

PORTUGAL

NORTE
PORTO

Unraveling the genetics of neuroendocrine tumors by high throughput methods
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

PORTUGAL

NORTE
PORTO

Sorting out the genetics of neuroendocrine tumours
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

SWEDEN

Stockholms läns landsting
STOCKHOLM

Inborn errors of endocrinology and metabolism
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

'CURE-DM1': In vivo CRISPR/Cas9-mediated correction of triplet nucleotide repeat expansion in DM1
VUB_ Vrije Universiteit Brussel, Campus Jette
Department of Gene Therapy and Regenerative Medicine

BELGIUM

VLAAMS BRABANT
HEVERLEE (LEUVEN)

"3DMyoDM1": A novel human 3D in-vitro disease model for DM1
Laboratory of Bioengineering and Morphogenesis, KU Leuven
Laboratory of Bioengineering and Morphogenesis

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

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
ADDRESS: NOT PROVIDED - CA

CANADA

Québec
JONQUIÈRE

Funded by an IRDiRC memberMotor, multisystemic and social participation assessment in myotonic dystrophy type 1 : a 9-year longitudinal study
CSSS - Centre de santé et de services sociaux de Jonquière
Centre de réadaptation Le Parcours

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

Funded by an IRDiRC memberLNA/2'OMe mixmers against toxic CUG expanded RNA
Institution: Information not provided - CY

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberModeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberVenous thromboembolism in myotonic dystrophy type 1
Institution: Information not provided - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

AUVERGNE-RHONE-ALPES
BRON

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical) : identification of responsible genes
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
PRAGUE

Funded by an IRDiRC memberPreclinical assessment of clinic ready agents for the treatment of muscular dystrophy and spinal muscular atrophy
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

BOURGOGNE-FRANCHE-COMTE
DIJON

Estimating the role of L-carnitine dependent enzymes in the regulation of very long chain fatty acids metabolism in adrenoleukodystrophy
Université de Bourgogne
Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
EVRY

Pathological modelling of Steinert Myotrophy using human embryonic stem cells carrying the causal mutation
GENOPOLE - Campus 1
I-Stem - Institut des cellules Souches pour le Traitement et l'Etude des maladies Monogéniques

FRANCE

ILE-DE-FRANCE
EVRY

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Vectors production for gene therapy of X-linked adrenoleukodystrophy (X-ALD)
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE

Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

FRANCE

ILE-DE-FRANCE
PARIS

'Dyslipidemia genetics: phenotype-genotype relationships; vascular consequences in children of hereditary dyslipidemia'
CHU Paris Est - Hôpital d'Enfants Armand-Trousseau
Service de Nutrition et Gastroentérologie Pédiatriques

FRANCE

ILE-DE-FRANCE
PARIS

Epi-Hypo: Survey on Epidemiology of Hypoparathyroidism in France
CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
Service de Physiologie - Explorations fonctionnelles Rénales et Métaboliques

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM1 disease mechanisms in the central nervous system: from brain cell-specific pathogenesis to misregulated glutamate homeostasis
Centre de Psychiatrie et Neurosciences
Neurobiologie du vieillissement normal et pathologique

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberGene therapy in DM1 cells by induction of a TALE Nuclease
Hôpital Necker-Enfants Malades
Service de Génétique Moléculaire

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberDM_Neuroglia : RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains - FR
IMAGINE - Institut des Maladies Génétiques
Equipe "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHow to contract CAG.CTG repeats in myotonic dystrophy type 1
IMAGINE - Institut des Maladies Génétiques
Laboratoire "Triplets CTG instables et dystrophie myotonique"

FRANCE

ILE-DE-FRANCE
PARIS

FRANCE

ILE-DE-FRANCE
PARIS

Monogenic diabetes (neonatal, syndromic, atypical or non-atypical) : identification of responsible genes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

FRANCE

ILE-DE-FRANCE
VILLEJUIF

Funded by an IRDiRC memberTransition Platforms: Understanding the Expectations of Parents of Young People with Rare Diseases
CLCC Institut Gustave Roussy
Equipe Epidémiologie des radiations, épidémiologie clinique des cancers et survie

FRANCE

OCCITANIE
MONTPELLIER

FRANCE

OCCITANIE
TOULOUSE

Structure-function relationship of the TSH receptor and of the related receptors
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

FRANCE

PAYS DE LA LOIRE
ANGERS

FRANCE

PROVENCE-ALPES-COTE D'AZUR
NICE

Adrenal stem cells: identification, generation and culture for genetic modification
Université de Nice Sophia-Antipolis - Faculté des sciences
Génétique du développement normal et pathologique

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberLRBA deficiency: clinical phenotype, biological pathomechanisms and murine model
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

GERMANY

Baden-Württemberg
FREIBURG

Funded by an IRDiRC memberGAIN: Safety and effectiveness of Abatacept in patients with CTLA4 insufficiency and LRBA deficit (ABACHAI) (SP11)
CCI am Universitätsklinikum Freiburg
Centrum für Chronische Immundefizienz

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Dipartimento di Medicina dei Sistemi

ITALY

LAZIO
ROMA

Genotype-phenotype correlations and therapeutic approaches in extreme insulin resistance syndromes due to mutation of the insulin receptor
A.O.U. Policlinico di Tor Vergata - Facoltà di Medicina e Chirurgia
Laboratorio di Endocrinologia e Metabolismo Molecolare

ITALY

LAZIO
ROMA

Study of the pathogenesis of autoimmune phenomena in primary immunodeficiencies
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica

ITALY

LAZIO
ROMA

Clinical and molecular characterization of genetic syndromes with congenital heart disease
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO
U.O.C. Laboratorio di Genetica Medica

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberAnalysis of the DM2 pathogenic mechanisms using Drosophila as model system
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin
Dipartimento di Biologia e Biotecnologie - Charles Darwin

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberClinical efficacy of NIV and modafinil on excessive daytime sleepiness: a multicenter, randomized, double-blind, placebo-controlled clinical trial in DM1
ASST Grande Ospedale Metropolitano Niguarda
Centro Clinico Nemo - sede di Milano - Centro ad alta specializzazione per le malattie neuromuscolari

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberAdvancing Care of Rare/Intractable Adrenal Diseases in Japan Study
National Hospital Organization Kyoto Medical Center
Clinical Research Institute for Endocrine and Metabolic Diseases

JAPAN

JAPAN
MIYAGI

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Tohoku University School of Medicine
Department of Medical Genetics

JAPAN

JAPAN
OSAKA

Funded by an IRDiRC memberEvidence-generating clinical research for myotonic dystrophy
Osaka University Graduate School of Medicine
Department of Functional Diagnostic Science

NETHERLANDS

Noord-Holland
AMSTERDAM

Towards a rational therapy for X-linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

NETHERLANDS

Noord-Holland
AMSTERDAM

Unravel the phenotypic variability of X linked adrenoleukodystrophy
Amsterdam UMC, locatie AMC
Laboratorium Genetische Metabole Ziekten

SPAIN

Cataluña
BADALONA

Funded by an IRDiRC memberDIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol
Unidad de Investigación Neuromuscular y Neuropediátrica

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Role of mitochondries and oxidative stress in Adrenoleukodystrophy: therapeutical involvements
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Cataluña
L'HOSPITALET DE LLOBREGAT

Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberTherapeutic modulation of MBNL genes as innovative treatments for myotonic dystrophy
INCLIVA - Facultad de Medicina de la Universidad de Valencia
Grupo de Genómica Traslacional

SWEDEN

Stockholms läns landsting
HUDDINGE

The functional organisation of the brain
Karolinska Institutet - Huddinge
Department of Clinical Neuroscience

SWEDEN

Stockholms läns landsting
STOCKHOLM

Molecular and clinical studies of bladder exstrophy and congenital adrenal hyperplasia
Karolinska Institutet - Solna
Department of Women's and Children's Health

SWEDEN

Västra Götalandsregionen
GÖTEBORG

Novel mechanisms of impaired thyroid development and function implicated in congenital hypothyroidism
Göteborg University
Department of Medical Biochemistry and Cell Biology

SWITZERLAND

Suisse Romande
GENÈVE

Monogenic diabetes: Integrating genetic screening with functional clinical biology
Hôpital des Enfants - Hôpitaux Universitaires de Genève HUG
Unité d'endocrinologie et de diabétologie pédiatriques

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRna toxicity and muscle regeneration
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

Funded by an IRDiRC memberIodine status and congenital hypothyroidism in the usa
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberContinuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of adrenal insufficiency
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe physiology of hypercortisolism
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

AUSTRIA

STEIERMARK
GRAZ

CANADA

Alberta
EDMONTON

Funded by an IRDiRC memberAutonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Alberta
EDMONTON

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberMolecular Determinants of Li-Fraumeni Syndrome Associated Cancers
Hospital for Sick Children, Research Institute

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberDevelopment og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

Funded by an IRDiRC memberGene therapy for Wolfram Syndrome
Institution: Information not provided - FR

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

ILE-DE-FRANCE
PARIS

Genetic origin of persistent Mullerian duct syndrome and search for new genes involved
Faculté de médecine Sorbonne Université
Lipodystrophies, adaptations métaboliques et hormonales, et vieillissement

FRANCE

ILE-DE-FRANCE
PARIS

Genetic and molecular study in patient affected by Wolcott-Rallison syndrome or other neonatal diabetes
U.F.R. de Médecine Paris Diderot - Paris 7 - Site Villemin
INSERM UMR_S958 "Génétique des Diabètes"

FRANCE

OCCITANIE
TOULOUSE

Resistance to thyroid hormones: molecular analysis of c-erbAbeta1 cofactors (SMRT, NCoR, SRC-1, MCT8)
CHU de Toulouse - Hôpital Rangueil
Institut des Maladies Métaboliques et Cardiovasculaires

GERMANY

Bayern
WÜRZBURG

Evaluation of the molecular pathogenesis of adrenocortical tumors by functional genomics
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Endokrinologie und Diabetologie

GERMANY

Bayern
WÜRZBURG

At the interface between endoplasmic reticulum and mitochondria: inhibition of SOAT1 as new treatment strategy against adrenocortical carcinoma
Zentrum Innere Medizin (ZIM)
Medizinische Klinik und Poliklinik I - Endokrinologie und Diabetologie

GERMANY

Sachsen
DRESDEN

Novel therapeutic approaches for congenital adrenal hyperplasia (A04- TRR 205: The Adrenal: Central Relay in Health and Disease)
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Klinik und Poliklinik für Kinder- und Jugendmedizin

GERMANY

Schleswig-Holstein
KIEL

Identification of highly selective co-regulators of the androgen receptor based on a functional in vitro model of androgen insensitivity
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Hormonzentrum für Kinder und Jugendliche - Kiel

ITALY

FRIULI VENEZIA GIULIA
TRIESTE

miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

ITALY

LAZIO
FIUMICINO

Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberRegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
CUSANO MILANINO

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Molecular characterisation of HRPT2 gene in subjects affected by familial primary hyperparathyroidism from parathyroid carcinoma
IRCCS Ospedale Casa Sollievo della Sofferenza -Poliamb. Giovanni Paolo II
U.O.C. Genetica Medica

JAPAN

JAPAN
EHIME

JAPAN

JAPAN
KYOTO

Funded by an IRDiRC memberDiscovery of novel therapeutic approach for Nakajo-Nishimura syndrome and Blau syndrome
Center for iPS Cell Research and Application, Kyoto University
Department of Clinical Application

JAPAN

JAPAN
TOKUSHIMA

Funded by an IRDiRC memberTherapeutic strategies for patients with immunoproteasomes dysfunctions
Tokushima University Graduate School of Biomedical Sciences
Department of Immunology and Parasitology

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberExploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberStudy of clinical features and treatment of imprinting disorders and related disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

NETHERLANDS

Gelderland
NIJMEGEN

HNF1ß: master regulator of cilia formation and electrolyte homeostasis in ADTKD-HNF1ß patients
Radboudumc - Radboud universitair medisch centrum
Afdeling Fysiologie

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

NETHERLANDS

Noord-Holland
AMSTERDAM

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

SWEDEN

Stockholms läns landsting
HUDDINGE

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

UNITED KINGDOM

Cambridgeshire
CAMBRIDGE

UNITED KINGDOM

Greater London
LONDON

UNITED KINGDOM

Greater London
LONDON

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 KINGDOM

West Midlands
BIRMINGHAM

EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit

UNITED KINGDOM

West Midlands
BIRMINGHAM

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberQhts to identify compounds against merkel cell carcinoma (mcc)
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberIdentification of small molecule er modulators for wolfram syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCell biology of metabolic disorders
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

Funded by an IRDiRC memberEpigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of adrenocortical tumors and related disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMolecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNeuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe differential diagnosis and treatment of cushing's syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

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)

GERMANY

Berlin
BERLIN

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

GERMANY

Hessen
MARBURG

GERMANY

Sachsen-Anhalt
MAGDEBURG

Isolation of primary cells from differentiated thyroid carcinomas for the construction of 2D/3D cell cultures and human tissue cultures
Universitätsklinikum Magdeburg A.ö.R
Universitätsklinik für Radiologie und Nuklearmedizin

ITALY

PUGLIA
SAN GIOVANNI ROTONDO

Medullary carcinoma screening and study of genotype in familial cases
Fondazione IRCCS Ospedale Casa Sollievo della Sofferenza
U.O.S. di Endocrinologia

PORTUGAL

NORTE
PORTO

Identification of prognostic factors and therapeutic selection in differentiated thyroid carcinomas
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

PORTUGAL

NORTE
PORTO

Transcriptional and post-transcriptional mechanisms of LRP1B inactivation in sporadic and familial non-medullary thyroid cancer
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

SPAIN

Asturias
OVIEDO

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberComparative mammalian genomics
Institution: Information not provided - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberNatural history study of patients with excess androgen
Institution: Information not provided - US

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberGenomic editing for treating hemoglobin diseases
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

GRAND-EST
STRASBOURG

Bardet-Biedl syndrome: new genes identification and biological characterization of a new gene BBS10
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112

FRANCE

ILE-DE-FRANCE
PARIS

Non-invasive prenatal diagnosis of sickle cell anemia by next generation sequencing (NGS)
CHU Paris - Hôpital Robert Debré
UF de Génétique Moléculaire

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

NORMANDIE
ROUEN

FRANCE

NOUVELLE AQUITAINE
PESSAC

Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévêque
Unité d'Endocrinologie et oncologie endocrinienne

FRANCE

OUTRE-MER
POINTE-À-PITRE

Funded by an IRDiRC memberSickle cell disease, neurocognitive disorders and social participation
Université des Antilles et de la Guyane
Laboratoire ACTES (Adaptations au Climat Tropical, Exercice et Santé)

GERMANY

Berlin
BERLIN

SPP 1629: THYROID TRANS ACT - Development of T3-peptide ligands to treat MCT8 deficiency via a Trojan horse like mechanism
Charité - Universitätsmedizin Berlin (CVK)
Institut für Experimentelle Pädiatrische Endokrinologie

GERMANY

Berlin
BERLIN

Identification of molecular mechanisms acting at the jObes1 locus in the Berlin Fat Mouse with effect on juvenile fat deposition
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik

GERMANY

Niedersachsen
GÖTTINGEN

PORTUGAL

SUL
LISBOA

Development and validation of vaso-occlusion early predictors in mendelian model of vascular disease
Instituto Nacional de Saúde Dr. Ricardo Jorge - Lisboa
Departamento de Genética

SPAIN

Comunidad Valenciana
SANT JOAN D'ALACANT

Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo

SWEDEN

Stockholms läns landsting
STOCKHOLM

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

South Dakota
SIOUX FALLS

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

Funded by an IRDiRC memberPreclinical innovation
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

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetics of brain development
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInsights into sickle cell trait and sickle cell disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberRed cell biology
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCilium-associated structures in rod cells
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFunction of c8orf37 in photoreceptors
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of retinal degeneration in inherited diseases
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 memberGene function; expression and regulation in zebrafish
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPhysiology; psychology; and genetics of obesity
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe regulation of pubertal onset and reproductive development
Institution: Information not provided - US

CANADA

Québec
MONTRÉAL

Abnormal Thyroid Development: a Model Disorder for Congenital Malformations and Neurocognitive Development
Centre hospitalier universitaire Sainte-Justine
CHU Ste-Justine-Centre de recherche - Service d'Endocrinologie

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberDrug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberOxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberClinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberInborn errors of cholesterol synthesis
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMammalian developmental genetics and stem cells
Institution: Information not provided - US

Multicentric Research projects