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Funded by an IRDiRC member =

Research projects

SPAIN

Madrid
MADRID

AUSTRIA

TIROL
INNSBRUCK

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

BELGIUM

ARRONDISSEMENT BRUSSELS-CAPITAL
BRUSSELS

Empowering Families through Technology: a mobile-health project to reduce the TAND identification and treatment gap (TANDem)
Universitair Ziekenhuis Brussel - UZ Brussel
Pediatric neurology / Neurologie Kinderen

BELGIUM

VLAAMS BRABANT
LEUVEN

Identification and characterisation of genes causing congenital anomalies and intellectual disability
University Hospitals Leuven - Gasthuisberg
Centrum Menselijke Erfelijkheid

BELGIUM

VLAAMS BRABANT
LEUVEN

Molecular and functional pathogenesis in NF1 and related diseases
University Hospitals Leuven - Gasthuisberg
Centrum Menselijke Erfelijkheid

FINLAND

Finland
TURKU

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

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

Funded by an IRDiRC memberSCD-Mec: Developmental mechanisms underlying human structural cerebellum defects
IMAGINE - Institut des Maladies Génétiques
Equipe "Bases moléculaires et physiopathologiques des troubles cognitifs"

FRANCE

ILE-DE-FRANCE
PARIS

Role of FOXG1/TLE1 complex in the neuronal proliferation-differentiation switch in patients derived neuronal stem/progenitor cells
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"

FRANCE

ILE-DE-FRANCE
PARIS

Research on monogenic epilepsies: partial familial, myoclonic juvenile with autosomic recessive transmission, febrile convulsions linked to generalised epilepsy
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

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

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

Baden-Württemberg
TÜBINGEN

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

GERMANY

Berlin
BERLIN

Functional characterisation of the protein kinase cyclin-dependent kinase like 5 (CDKL5)
Max-Planck-Institut für molekulare Genetik
Abteilung Human Molecular Genetics

GERMANY

Niedersachsen
GÖTTINGEN

Development of therapeutic strategies for Rett syndrome
Universitätsmedizin Göttingen
Klinik für Kinder- und Jugendmedizin

GERMANY

Nordrhein-Westfalen
KÖLN

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Cologne Center for Genomics (CCG) der Universität zu Köln
Cologne Center for Genomics

GERMANY

Sachsen
DRESDEN

Genetics of cortical malformations
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

GERMANY

Schleswig-Holstein
KIEL

Generation and characterization of new mouse models and transcription profiling (FOR 2715: Epileptogenesis of genetic epilepsies)
Universitätsklinikum Schleswig-Holstein - Campus Kiel
Klinik für Kinder- und Jugendmedizin II : Neuropädiatrie und Sozialpädiatrie

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberInnovative therapeutic approaches for CDKL5 Deficiency Disorder, a rare neurodevelopmental disorder of genetic origin
ISS - Istituto Superiore di Sanità
Centro di Riferimento per le Scienze Comportamentali e la Salute Mentale

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberRescuing epilepsy associated with SYN1 gene mutations by inhibiting eEF2K/eEF2 pathway
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberCongenital Rett Syndrome cellular and mouse models for the study of FOXG1 impact on forebrain neurogenesis
IRCCS Ospedale San Raffaele
Fondazione Centro San Raffaele del Monte Tabor - Divisione di Medicina Rigenerativa Cellule Staminali e Terapia Genica (DMR)

ITALY

TOSCANA
SIENA

Analysis of HLA genes to assess genetic susceptibility to vaccines as a component of the pathogenesis of Rett syndrome
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
U.O.C. di Genetica Medica

ITALY

TOSCANA
SIENA

Study protocol for the application of the test array-CGH in prenatal diagnosis in Rett syndrome
Azienda Ospedaliera Universitaria Senese - Ospedale Santa Maria alle Scotte
U.O.C. di Genetica Medica

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 memberMolecular basis research for exploring inovative therapies of Rett syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberComprehensive study for clinical support and making guideline of Rett syndrome and MECP2 duplication syndrome
National Center of Neurology and Psychiatry
Department of Mental Retardation and Birth Defect Research

JAPAN

JAPAN
TOKYO

Funded by an IRDiRC memberScreening of novel therapeutics for intellectual disability and autism in tuberous sclerosis complex
Tokyo Metropolitan Institute of Medical Science
Department of Brain Development and Neural Regeneration

PORTUGAL

NORTE
PORTO

LIMP-2 studies: from clinical genetics to functional genomics and back (studies in action myoclonus-renal failure syndrome (AMRF))
Instituto de Biologia Molecular e Celular
Unidade de Biologia do Lisossoma e do Peroxissoma

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

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThalamocortical circuit defects in developmental brain disorders
Institution: Information not provided - US

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 memberClinical and molecular studies of malformations
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 memberMolecular studies of malformations
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanotransduction and the regulation of skeletal muscle mass
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

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 memberFilamin a in tsc
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe mechanism of rett syndrome rescue by astrocytes
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMechanisms of synapse remodeling in tsc
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial ros and microglia in rett syndrome
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 memberPhenotypic characterization of mecp2 mice
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FINLAND

Finland
HELSINKI

Molecular genetics of progressive myoclonus epilepsies
Folkhälsan
Folkhälsan Research Center

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Genotypic and phenotypic analysis of early onset epileptic encephalopathies
Faculté de Médecine de la Timone
Centre d'enseignement et de recherche en génétique médicale - INSERM UMR S910

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberHETER-OMICS: Multi-OMICS interrogation of cerebral cortical malformations - FR
Institut de neurobiologie de la méditerranée (INMED)
Bases moléculaires et physiopathologie des malformations du cortex cérébral

GERMANY

Baden-Württemberg
TÜBINGEN

Brain region-specific epileptogenesis in a conditional mouse model (FOR 2715: Epileptogenesis of genetic epilepsies)
Hertie-Institut für klinische Hirnforschung (HIH)
Abteilung für Neurologie mit Schwerpunkt Epileptologie

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberGenetic and pharmacological rescue of TM4SF2 loss of function in animal model and iPS cells
Consiglio Nazionale delle Ricerche
Istituto di Neuroscienze

JAPAN

JAPAN
KANAGAWA

JAPAN

JAPAN
SAITAMA

Funded by an IRDiRC memberIdentification of genes for temporal lobe epilepsy and investigation of pathological cascade
RIKEN Center for Brain Science
Laboratory for Neurogenetics

SPAIN

Madrid
CANTOBLANCO

AGC1 deficiency and calcium signalling by mitochondria: new model of the disease for the study of pathogenic mechanisms and development of therapeutic strategies
CBMSO - Centro de Biología Molecular Severo Ochoa
Grupo de señalización mitocondrial del calcio y señalización de insulina/leptina en envejecimiento

UNITED KINGDOM

Greater London
LONDON

Funded by an IRDiRC memberPathological mechanisms underlying Progressive Myoclonus Epilepsy
The National Hospital For Neurology and Neurosurgery
UCL Institute of Neurology

UNITED KINGDOM

Greater London
LONDON

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

FINLAND

Finland
HELSINKI

Disease mechanisms in progressive myoclonus epilepsy (EPM1)
Folkhälsan
Folkhälsan Research Center

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberPig models for Ataxia telangiectasia and Batten disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

AUVERGNE-RHONE-ALPES
PRAGUE

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Faculty of Medicine and University Hospital Motol
Department of Pediatrics

FRANCE

ILE-DE-FRANCE
GARCHES

Laminar sub-cortical heterotopies and lissencephalies: radio-clinical correlations and mutations in the double cortin gene
CHU Paris IdF Ouest - Hôpital Raymond Poincaré
Unité : Neurologie Pédiatrique

GERMANY

Sachsen
DRESDEN

Non-muscular actinopathies: Baraitser-Winter Cerebrofrontofacial syndrome and related disorders
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberNeuroserpin misfolding and FENIB neurodegeneration: mechanism and inhibition processes
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche
Unità di Espressione Genica, Ciclo Cellulare e Stabilità del Genoma

SPAIN

Andalucía
MÁLAGA

Systems medicine approaches for the identification of new therapeutic targets in rare genetic diseases
Universidad de Málaga. Facultad de Ciencias
Departamento de Biología Molecular y Bioquímica

SPAIN

Castilla - León
SALAMANCA

Dissecting a neuron-to-liver crosstalk to modulate lipid metabolism in Batten disease
Instituto de Biología Funcional y Genómica (USAL-CSIC)
Bioenergética y estrés oxidativo del sistema nervioso

SPAIN

Comunidad Valenciana
VALENCIA

Astrocytes: new antiepileptic targets in Lafora disease
Instituto de Biomedicina de Valencia (CSIC)
Unidad de Señalización por Nutrientes

UNITED STATES

South Dakota
SOUTH DAKOTA

UNITED STATES

South Dakota
SOUTH DAKOTA

Funded by an IRDiRC memberMultifaceted preclinical studies for the treatment of Batten Disease
Sanford Research/University of South Dakota
WEIMER LAB - Department of Pediatrics

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 memberProj 4: chemical chaperone therapy of batten disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberMitochondrial encephalomyopathies and mental retardation
Institution: Information not provided - US

GERMANY

Nordrhein-Westfalen
BONN

Funded by an IRDiRC memberNCL2TREAT: Pathogenetic mechanisms in CLN6
Medizinische Fakultät der Universität Bonn
Institut für Biochemie und Molekularbiologie

JAPAN

JAPAN
HYOGO

Funded by an IRDiRC memberDevelopment ofa new molecular targeted therapy for Fukuyama muscular dystrophy
Kobe University Graduate School of Medicine
Department of Pediatrics

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberThe role of dystroglycan in neural circuit development.
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects