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72 Resultado(s)

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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

ALEMANHA

Baden-Württemberg
HEIDELBERG

Longitudinal Study of Urea Cycle Disorders
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

CANADA

Ontario
OTTAWA

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
Children's Hospital of Eastern Ontario
Newborn Screening Ontario

CANADA

Ontario
OTTAWA, ONTARIO

Financiado por um membro do IRDiRCEmerging team in rare diseases: achieving the "triple aim" for inborn errors of metabolism
University of Ottawa
Department of Epidemiology and Community Medicine

ESPANHA

Cataluña
ESPLUGUES DE LLOBREGAT

Financiado por um membro do IRDiRCBiosensors for the monitoring of Hereditary Metabolic Diseases. Development and evaluation of functional prototypes for conceptual validation
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBasic and clinical studies in immune function and metabolism
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

LAZIO
ROMA

Financiado por um membro do IRDiRCThe Italian Expanded newborn screening program
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

SUECIA

Region Stockholm
STOCKHOLM

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

SUICA

Suisse Alémanique
ZÜRICH

Identification and Validation of Relevant Patient and Observer Reported Outcome Measurements in Inborn Errors of Metabolism
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

ALEMANHA

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

CANADA

Ontario
TORONTO

ESPANHA

Madrid
CANTOBLANCO

Financiado por um membro do IRDiRCCross-omic approach for discovery of disease-causes in inborn error of metabolism and for personalized therapeutical intervention
Universidad Autónoma de Madrid. Facultad de Ciencias
Centro de Diagnóstico de Enfermedades Moleculares

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCCell and gene replacement strategies for arginase deficiency
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCGene therapy for urea cycle disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCBarriers to achieving efficient gene therapy
Institution: Information not provided - US

FRANCA

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

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : 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

ITALIA

CAMPANIA
NAPOLI

ITALIA

EMILIA ROMAGNA
FERRARA

Financiado por um membro do IRDiRCRNA-based therapeutics for OTC deficiency
Università degli Studi di Ferrara - Dip. di Scienze della vita e biotecnologie
Dipartimento di Scienze della vita e biotecnologie

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SUICA

Suisse Alémanique
ZURICH

Establishment of in vivo CRISPR-Cas base editor approaches to treat monogenetic liver diseases
ETH Zurich - Hönggerberg campus
Institute of Molecular Health Sciences

ALEMANHA

Baden-Württemberg
HEIDELBERG

Evaluation of a novel measuring method for the determination of phenylalanine concentrations in whole blood and a possible application for home monitoring
Zentrum für Kinder- und Jugendmedizin - Angelika-Lautenschläger-Klinik
Klinik für Kinderheilkunde I - Sektion für Neuropädiatrie und Stoffwechselmedizin

ALEMANHA

Berlin
BERLIN

Financiado por um membro do IRDiRCCORD : Collaboration On Rare Diseases
Geschäftsstelle BIH
Berliner Institut für Gesundheitsforschung

BELGICA

OOST-VLAANDEREN
GENT

SNAP: An Exploratory Matched Case-control Study to Measure Blood Nutrient Levels of Adult PKU Patients on a Protein Substitute
Ghent University Hospital - UZ Gent
CEMA - Centrum voor Erfelijke Metabole Aandoeningen

BELGICA

OOST-VLAANDEREN
GENT

PANDA: A Cross-sectional Study to Measure Blood Amino Acid Levels in PKU Children on a Protein Substitute
Ghent University Hospital - UZ Gent
CEMA - Centrum voor Erfelijke Metabole Aandoeningen

CANADA

Colombie-Britannique
VANCOUVER

Application of Stable Isotopes to Determine Protein Requirements in Children with Phenylketonuria (PKU)
University of British Columbia
CFRI - Child and Family Research Institute

CANADA

Colombie-Britannique
VANCOUVER

Minimally Invasive 13C-Breath Test to Examine Phenylalanine Metabolism in Children with Phenylketonuria
University of British Columbia
CFRI - Child and Family Research Institute

ESPANHA

Andalucía
SEVILLA

Financiado por um membro do IRDiRCBiomedical 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

ESPANHA

Aragón
ZARAGOZA

Financiado por um membro do IRDiRCDesign and development of a new phenylalanine test for family management of phenylketonuria
Universidad de Zaragoza. Facultad de Ciencias
Departamento de Bioquimica y Biologia Molecular y Celular (Facultad de Ciencias)

ESPANHA

Cataluña
BARCELONA

Adeno-associated viral gene therapy with AAV9-GCDH to correct glutaric aciduria type 1 in Gcdh -1- mice
Fundació Clínic per a la Recerca Biomèdica
Grupo Terapia génica y cáncer

ESPANHA

Madrid
MADRID

Multicentre study in glutaric aciduria type I: Clinic, radiologic and neurocognitive characterization - National registry development
Hospital Universitario 12 de Octubre
Unidad Pediátrica de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCClinical and molecular studies of malformations
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCInvestigations of methylmalonic acidemia and related disorders
Institution: Information not provided - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

ITALIA

TOSCANA
SIENA

Identification and preclinical analysis of therapeutic molecules for the treatment of alkaptonuria
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

ITALIA

TOSCANA
SIENA

Proteomic and clinical study of alkaptonuria physiopathology and set up a therapy for the treatment of ochronosis
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

ITALIA

TOSCANA
SIENA

Clinical Development of Nitisinone for Alkaptonuria
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

ITALIA

TOSCANA
SIENA

Preclinical study of therapeutic agents for the treatment of ochronotic arthropathy
Università degli Studi di Siena - Presidio San Miniato
Sezione di Biochimica e Biologia Molecolare

SUICA

Suisse Alémanique
ZÜRICH

The effect of cofactors and vitamins on homocysteine and methylmalonic acid metabolism in health and disease
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

ALEMANHA

Niedersachsen
GÖTTINGEN

AAV-mediated gene therapy for molybdenum cofactor deficiency type B
Institut für Humangenetik der Universität Göttingen
Institut für Humangenetik

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCZebrafish models of human disease
Institution: Information not provided - US

Projetos de investigação multicêntricos