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Projetos de investigação

TIROL
INNSBRUCK
TECANT: Novel 99mTc-labeled somatostatin receptor antagonists in the diagnostic algorithm of neuroendocrine neoplasms - a feasibility study - AT
Medizinische Universität Innsbruck
Universitätsklinik für Nuklearmedizin

TIROL
INNSBRUCK
Prospective study of 68GA-NODAGA-RGD-PET for the non-invasive determination of the Integrin avb3 expression in patients with untreated or recurrent breast cancer, colorectal cancer, non-small cell lung cancer or neuroendocrine tumors - AT
Medizinische Universität Innsbruck
Universitätsklinik für Nuklearmedizin

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

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

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

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

Suisse Romande
FRIBOURG
Understanding human sex development and its defects: novel approaches
Université de Fribourg
Département d'endocrinologie, métabolisme et système cardiovasculaire (EMC)

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

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

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

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

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

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

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

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

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

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

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

WIEN
ADDRESS: NOT PROVIDED - AT
Prospective, multi-country, observational registry to collect clinical information in patients with Cushing's syndrome (CS) exposed to ketoconazole - AT
Institution: Information not provided - AT

Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia - European-Canadian Consortium - CA
Queen's University
Department of Biomedical and Molecular Sciences

Québec
MONTRÉAL
Regulation of skeletal and dental mineralization by extracellular matrix proteins and enzymes in X-linked hypophosphatemia and hypophosphatasia
McGill University - Dentistry Building
Division of Biomedical Sciences

Cataluña
BADALONA
DIMINUTES, Childhood and adult myotonic dystrophy: evaluation of new treatments and pathogenicity through genetic, epigenetic and molecular imaging analysis
Instituto de Investigación Germans Trias i Pujol
Grupo de investigación en neuromuscular y neuropediátrica

Cataluña
BARCELONA
Role of fibroblast growth factor 21 in the metabolic dysfunction during active and cured Cushing Syndrome. Human and animal model study
Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)
Grupo de investigación en Trastornos endocrinos: interferencia entre determinantes moleculares, metabólicos y terapéuticos

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

Cataluña
L'HOSPITALET DE LLOBREGAT
Pharmacological therapies for X-linked adrenoleukodystrophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

Cataluña
L'HOSPITALET DE LLOBREGAT
Inflammatory lipid signaling in adrenoleukodystrophy: Integration of multiomics for markers and new therapeutic target identification
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

Cataluña
L'HOSPITALET DE LLOBREGAT
Impact of human gut microbiome in the phenotypic divergence in X-linked adrenoleukodystophy
IDIBELL - Instituto de Investigación Biomédica de Bellvitge
Laboratorio de Enfermedades Neurometabólicas

Washington
ADDRESS: NOT PROVIDED - US
Long-acting parathyroid hormone analog for treatment of hypoparathyroidism
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Study of skeletal muscle differentiation in human ips cells by knock-in reporters
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Continuous subcutaneous hydrocortisone infusion treatment for cah
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Diagnosis; pathophysiology and molecular biology of pheochromocytoma
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The physiology of adrenal insufficiency
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The physiology of hypercortisolism
Institution: Information not provided - US

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

Finland
HELSINKI
Modeling the mechanisms of pituitary hormone deficiency caused by two missense mutations in KCNQ1
University of Helsinki
Stem Cells and Metabolism Research Program

Finland
TURKU
Genetics of congenital hypothyroidism in Finland
University of Turku
Institute of Biomedicine

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

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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Towards a rational therapy for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

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

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

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Vector quality control and patients' follow up in the gene therapy trials for adrenoleukodystrophy and metachromatic leukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Unravel the phenotypic variability of X linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Pharmacological therapies for X-linked adrenoleukodystrophy
CHU Paris-Sud - Hôpital de Bicêtre
Service de Neuropédiatrie

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

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

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"

ILE-DE-FRANCE
VILLEJUIF
Transition 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

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

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

PAYS DE LA LOIRE
ANGERS
Structure-function relationship of the TSH receptor and of the related receptors
CHU d'Angers
UF de Biologie Moléculaire

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

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

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

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

LAZIO
ROMA
Analysis 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

JAPAN
KYOTO
Advancing Care of Rare/Intractable Adrenal Diseases in Japan Study
National Hospital Organization Kyoto Medical Center
Clinical Research Institute for Endocrine and Metabolic Diseases

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

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

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

Devon
EXETER
Preventing death and long term institutional care by developing a newborn screening strategy to Identify Neonatal Diabetes
Royal Devon and Exeter Hospital - Wonford site
Royal Devon and Exeter Hospital

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

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

Suisse Romande
LAUSANNE
The genetic basis of combined pituitary hormone deficiency and pituitary neoplasms
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

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

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

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

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 - Campus Kiel

STEIERMARK
GRAZ
SACRO: SAcral Chordoma: a Randomized & Observational Study on Surgery Versus Definitive Radiation Therapy in Primary Localized Disease - AT
Medizinische Universität Graz
Universitätsklinik für Orthopädie und Traumatologie

WIEN
ADDRESS: NOT PROVIDED - AT
Eu-IGFD: European Increlex® (Mecasermin [rDNA Origin] Injection) Growth Forum Database: a European Registry for Monitoring Long Term Safety and Efficacy of Increlex® - AT
Institution: Information not provided - AT

WIEN
ADDRESS: NOT PROVIDED - AT
LUCA: Laser and Ultrasound Co-Analyzer for thyroid nodules - AT
Institution: Information not provided - AT

WIEN
WIEN
Bridging cell states and interactions in sympatho-adrenal development for curing neural crest tumors
Medizinische Universität Wien

Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism

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

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

Andalucía
MÁLAGA
Study of newly identified factors of the GH/IGF system: analysis of the molecular mechanisms regulating growth and metabolism by PAPP-A2 and development of potential novel therapies
IBIMA: Instituto de Investigación Biomédica de Málaga
Grupo de Neuropsicofarmacología

Cataluña
BARCELONA
Study of endoscopic multiportal minimally invasive neurosurgical pathways for complex brain tumors. Design of new anatomical models and clinical translation
Hospital Clínic de Barcelona
Servicio de Neurocirugía

Cataluña
REUS
Epigenetic study to improve the genetic diagnosis of familial hyperlipidemias
Institut d'Investigació Sanitària Pere Virgili. Facultat de Medicina
URLA: Unidad de investigación en lípidos y arteriosclerosis

Cataluña
SABADELL
Effect of growth hormone treatment on brain connectivity and the structure of areas related to muscle tone in adults with Prader-Willi syndrome
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición

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

Washington
ADDRESS: NOT PROVIDED - US
Effect of abcd1 upon brain endothelium in x-linked adrenoleukodystrophy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Qhts to identify compounds against merkel cell carcinoma (mcc)
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule er modulators for wolfram syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetics; pathophysiology; and treatment of recessive autoinflammatory diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Applying bioinformatics to research in immune; muscle; and bone diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Pathogenesis and treatment of nomid; dira and other autoinflammatory diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of adrenocortical tumors and related disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular genetics of endocrine tumors and related disorders
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The differential diagnosis and treatment of cushing's syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Deciphering the functional role of mkrn3 in puberty and reproduction
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US

Finland
HELSINKI
Development og gene and cell therapy for APECED
HUS - Helsinki University Hospital
Skin and Allergy Hospital

Finland
HELSINKI
TARID - Thymic abnormalities in rare immunological diseases -FI
University of Helsinki

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
Gene therapy for Wolfram Syndrome
Institution: Information not provided - FR

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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Targeting the vitamin D receptor for the treatment of rare diseases induced by calcitriosis
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Génomique fonctionnelle et cancer

ILE-DE-FRANCE
LE KREMLIN-BICÊTRE
Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicêtre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabète de l'Enfant

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

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"

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

NOUVELLE AQUITAINE
BORDEAUX
Communication in Prader-Willi syndrome: Study of emotional control related to behavioral disorders, their daily repercussions and examination of innovative therapies
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)

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

PAYS DE LA LOIRE
ANGERS
Resistance to thyroid hormones: molecular analysis of c-erbAbeta1 cofactors (SMRT, NCoR, SRC-1, MCT8)
CHU d'Angers
UF de Biologie Moléculaire

FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato

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

LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare

MARCHE
ANCONA
Incidence, Clinical Management and Molecular Factors Associated With the Development of Immune-related Adverse Events in Cancer Patients Receiving PD-1 and PD-L1 Inhibitors: a Prospective Observational Study
Università Politecnica delle Marche - Polo Didattico
Istituto di Clinica Medica

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
EHIME
Clarification of pathophysiological mechanisms for proteasome-associated autoinflammatory syndrome
Okayama University of Science Faculty of Veterinary Medicine

JAPAN
KYOTO
Discovery 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
TOKUSHIMA
Therapeutic strategies for patients with immunoproteasomes dysfunctions
Tokushima University Graduate School of Biomedical Sciences
Department of Immunology and Parasitology

JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology

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

Østlandet
SIGGERUD
School Staff's Experiences and coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study
Frambu kompetansesenter for sjeldne diagnoser

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

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

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

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

Cambridgeshire
CAMBRIDGE
Autoimmunity in AIRE deficient mice, a model of autoimmune polyendocrine syndrome type I
University of Cambridge
Department of Medicine

Greater London
LONDON
Clinical, genetic and molecular study of FIPA (Familial Isolated Pituitary Adenoma) patients (REGAIP, WP4)
Barts and The London School of Medicine and Dentistry
Endocrinology

Greater London
LONDON
Who will benefit from bariatric surgery for diabetes? Using genetic markers and measurement of fat distribution to predict remission of diabetes
Imperial College London, main campus
Imperial College London Headquarters

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

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

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

West Midlands
BIRMINGHAM
Development of a novel repurposed drug treatment for the neurodegeneration and diabetes in Wolfram syndrome
University of Birmingham
School of Cancer Sciences

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

Suisse Romande
LAUSANNE
Improving Cleft Lip/Palate management of care through genomic medicine
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme

Berlin
BERLIN
CORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

Hessen
MARBURG
Tumor research on a transgene mouse model for pancreatic endocrine tumor : blockade of hedgehog signaling pathway with cyclopamin as new therapy option in neuroendocrine pancreatic tumors
Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
Klinik für Visceral- Thorax- und Gefäßchirurgie

WIEN
ADDRESS: NOT PROVIDED - AT
Global Lomitapide (Juxtapid and Lojuxta) Pregnancy Exposure Registry - AT
Institution: Information not provided - AT

WIEN
ADDRESS: NOT PROVIDED - AT
GENIALL LPLD Registry: observational longitudinal pharmaco-epidemiologic study in lipoprotein lipase deficient (LPLD) patients, either treated or not treated with alipogene tiparvovec (Glybera®) - AT
Institution: Information not provided - AT

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

Asturias
OVIEDO
Optimization of treatment in X-linked hypophosphatemia. Effects on growth, epiphyseal cartilage and bone in mouse Hyp
Hospital Universitario Central de Asturias
Servicio de Pediatría

Cataluña
BARCELONA
Descriptive Observational Epidemiological Study on the Characteristics of Thyroid Cancer in Patients Treated in Oncology Services of Spanish Centers: National Registry of Thyroid Cancer - Differentiated, Medullary and Anaplastic - ES
Hospital Universitari Vall d'Hebron
Servicio de Oncología Médica

Cataluña
BARCELONA
The Etiology and Extent of Impaired Quality of Life, Fatigue and Cognitive, Affective and Emotional Dysfunction in Patients With Cushing's Syndrome - Prospective Studies - ES
Hospital de la Santa Creu i Sant Pau
Servicio de Endocrinología y Nutrición

Cataluña
BARCELONA
Functional and identification studies of therapeutic strategies in intellectual disability: TRIM28, TRAF7 and MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana

Cataluña
REUS
Early detection of familial hypercholesterolemia in children in Tarragona province
Hospital Universitari de Sant Joan de Reus
Servicio de Medicina Interna

Galicia
SANTIAGO DE COMPOSTELA
Clinicopathological and molecular study of familial non-medullary thyroid cancer
Hospital Clínico Universitario de Santiago
Servicio de Anatomía Patológica

Madrid
MADRID
Molecular, OMIC and functional characterisation of mutations in the gene DLST in patients with pheochromocytoma/paraganglioma
Centro Nacional de Investigaciones Oncológicas (CNIO)
Grupo de Cáncer Endocrino Hereditario

Madrid
MADRID
Deciphering the genetic complexity of congenital hypopituitarism
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Endocrinología Molecular

Texas
DALLAS
Prospective Study in Medullary Thyroid Carcinoma
University of Texas Southwestern Medical Center

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

Washington
ADDRESS: NOT PROVIDED - US
Comparative mammalian genomics
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Molecular and cellular determinants of enthesopathy in x-linked hypophosphatemia
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Hormonal and molecular etiology of skeletal abnormalities in xlh
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Iodine status and congenital hypothyroidism in the usa
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Natural history study of patients with excess androgen
Institution: Information not provided - US

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR
PMTR-pNET : Predictive models of therapy response in pancreatic neuroendocrine tumors - FR
Institution: Information not provided - FR

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

ILE-DE-FRANCE
MONTROUGE
X-linked hypophosphatemia: from pathological mechanisms of mineralization to treatments for skeletal manifestations
Université Paris Descartes - UFR Odontologie
Laboratoire "Pathologie, Imagerie et Biothérapies orofaciales" - EA2496

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)

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

NORTE
PORTO
Identificação de factores prognósticos e de seleção terapêutica em carcinomas diferenciados da tireoide
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

NORTE
PORTO
Mecanismos transcricionais de inactivação do LRP1B em tumores não-medulares da tiróide esporádicos e familiares
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Grupo de Oncobiologia

Suisse Alémanique
BASEL
A comparison of two novel molecular targeting systems for diagnosis and therapy in patients with medullary thyroid carcinoma (MTC)
Universitätsspital Basel
Abteilung Endokrinologie, Diabetologie und Metabolismus

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

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

Niedersachsen
GÖTTINGEN
Elucidating the pathogenesis of Kabuki syndrome and a possible molecular genetic link between the two malformation syndromes CHARGE and Kabuki
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

Rheinland-Pfalz
MAINZ
TIC-PEA: Telemedical Interdisciplinary Care for Patients with Esophageal Atresia
Universitätsmedizin Mainz
Klinik und Poliklinik für Kinderchirurgie

Ontario
TORONTO
Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

Andalucía
SEVILLA
Biomedical research and clinical innovation in hereditary retinal dystrophies: towards personalized medicine in rare diseases
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción

Comunidad Valenciana
SANT JOAN D'ALACANT
Molecular mechanisms underlying Zic2-associated holoprosencephaly
Instituto de Neurociencias de Alicante (CSIC-UMH)
Unidad de Neurobiología del Desarrollo

Galicia
VIGO
Molecular mechanisms in ciliopathies
Universidade de Vigo
Grupo de Enfermedades raras

Washington
ADDRESS: NOT PROVIDED - US
Clinical and molecular studies of malformations
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Genetics of brain development
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Neural immune and genetic influences on chronic pelvic pain and endometriosis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Gene function; expression and regulation in zebrafish
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
The regulation of pubertal onset and reproductive development
Institution: Information not provided - US

AUVERGNE-RHONE-ALPES
PRAGUE
Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

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

NORMANDIE
ROUEN
Influence of tissue plasminogen activator (t-PA)-induced cascades in the demyelinating white matter lesions of the preterm newborn
Faculté de médecine et de pharmacie de Rouen
Département de neuro-pédiatrie

JAPAN
TOKYO
Study aiming at elucidation of the pathoiogy of multiple congenital anomaly syndrome by utilizing diseases- specific iPSCs and development of novel treatment methods
Keio University School of Medicine

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

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

Washington
ADDRESS: NOT PROVIDED - US
Drug repurposing screening for rare and neglected diseases
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Oxysterols in slos neurodevelopment: pathological role and therapy
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Clinical investigations of smith-lemli-opitz syndrome
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Inborn errors of cholesterol synthesis
Institution: Information not provided - US

Washington
ADDRESS: NOT PROVIDED - US
Mammalian developmental genetics and stem cells
Institution: Information not provided - US
Projetos de investigação multicêntricos
- Charité - Universitätsmedizin Berlin (CVK)
- Medizinische Klinik mit Schwerpunkt Hepatologie und Gastroenterologie (CVK)
- Charité - Universitätsmedizin Berlin (CVK)
- BCSE - Berliner Centrum für Seltene Erkrankungen (ZSE)
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Universitätsklinikum Schleswig-Holstein - Campus Lübeck
- Hormonzentrum für Kinder und Jugendliche - Lübeck
- Queen's University
- Department of Biomedical and Molecular Sciences
- The Mount Sinai School of Medicine
- Department of pediatric endocrinology
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Unité d'Hypertension artérielle
- CHU Paris IdF Ouest - HEGP Hôpital Européen Georges Pompidou
- Service de génétique
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Nucleaire Geneeskunde
- Department of Health
- Newcastle upon Tyne Hospitals NHS Trust
- John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
- UniversitätsSpital Zürich
- Klinik für Endokrinologie, Diabetologie und Klinische Ernährung
- Institut für Humangenetik der Universität Göttingen
- Institut für Humangenetik
- Universitätsklinikum Essen
- DKTK Abteilung für Translationale Hautkrebsforschung
- Université de Liège
- Centre d'Immunologie de Liège
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- Institut Pasteur de Lille
- Génomique et maladies métaboliques
- CHU Paris Centre - Hôpital Cochin, Site Cochin
- Service d'endocrinologie et maladies métaboliques
- CHU Paris Centre - Hôpital Cochin, Site Cochin
- Service d'endocrinologie et maladies métaboliques
- Institut Pasteur
- Génétique du Développement Humain - CNRS UMR3738
- Haukeland University Hospital
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Akademiska Sjukhuset
- Department of Medical Sciences
- Institution: Information not provided - DE
- Universitätsklinikum Gießen und Marburg GmbH, Standort Marburg
- Klinik für Innere Medizin - Schwerpunkt Gastroenterologie und Endokrinologie
- Universitätsklinikum Essen
- Klinik für Endokrinologie und Stoffwechselerkrankungen
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- 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

Berlin
BERLIN
ENETS: European Neuroendocrine Tumor Society

Berlin
BERLIN
DSD-Life: Clinical European study on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development (DSD)

Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development

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

Schleswig-Holstein
LÜBECK
EURODSD : European collaborative study on disorders of sex development -terminated-

Ontario
KINGSTON
IIH-ECC: Idiopathic Infantile Hypercalcemia: European-Canadian Consortium

New York
NEW YORK
RGSDC: Rare Genetic Steroid Disorders Consortium

ILE-DE-FRANCE
PARIS
COMETE : COrtico, MEdullosurrénale et Tumeurs Endocrines

ILE-DE-FRANCE
PARIS
PGL.NET: clinical research network on pheochromocytoma and hereditary paraganglioma

Gelderland
NIJMEGEN
BETACURE: Personalized diagnosis and treatment of hyperinsulinemic hypoglycaemia caused by beta-cell pathology (COMPLETED)

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

Tyne & Wear
NEWCASTLE UPON TYNE
SYBIL: Systems biology for the functional validation of genetic determinants of skeletal diseases

Suisse Alémanique
ZÜRICH
ENS@T-CANCER: European Network for the Study of Adrenal Tumours - Structuring clinical research on adrenal cancers in adults -terminated-

Niedersachsen
GÖTTINGEN
CRANIRARE: An integrated clinical and scientific approach for craniofacial malformations

Nordrhein-Westfalen
ESSEN
IMMOMEC: IMmune MOdulating strategies for treatment of MErkel cell Carcinoma

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

GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques

HAUTS-DE-FRANCE
LILLE
EUROGEBETA: European network on genetics, pathophysiology and translational research into rare pancreatic beta-cell insufficiency diseases

ILE-DE-FRANCE
PARIS
Réseau d'étude du complexe de Carney

ILE-DE-FRANCE
PARIS
GOSAMPAC: Genomics of cAMP signaling alterations in adrenal Cushing

ILE-DE-FRANCE
PARIS
Réseau national d'étude du pseudohermaphrodisme masculin et autres troubles de développement sexuel

Vestlandet
BERGEN
EURADRENAL: pathophysiology and natural course of autoimmune adrenal failure in Europe (research)

Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health

Region Uppsala
UPPSALA
EURAPS: autoimmune polyendocrine syndrome type I - a rare disorder of childhood as a model for autoimmunity (TERMINATED)

Berlin
ADDRESS: NOT PROVIDED - DE
NExT: Establishing an algorithm for the early diagnosis and follow-up of patients with pancreatic neuroendocrine tumors

Hessen
MARBURG
PMTR-pNET : Predictive models of therapy response in pancreatic neuroendocrine tumors

Nordrhein-Westfalen
ESSEN
THYRONERVE: Allan-Herndon-Dudley Syndrome: Mechanisms of disease and therapeutic approaches in model organism

Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems

AUVERGNE-RHONE-ALPES
BRON