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Ufundowane przez członka IRDiRC = 
Członek Europejskiej Sieci Referencyjnej (ERN) = 
Projekt badawczy
NIEMCY
Sachsen-Anhalt
MAGDEBURG
EUROlinkCAT: Europaweites Netzwerk zum Outcome von angeborenen Fehlbildungen (partner DE)
Universitätsklinikum Magdeburg A.ö.R
MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
ZJEDNOCZONE KRÓLESTWO
Cambridgeshire
HINXTON
The Deciphering Developmental Disorders (the DDD study)
Wellcome Trust Sanger Institute
DECIPHER
KANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
KANADA
Colombie-Britannique
VANCOUVER
Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia
CFRI - Child and Family Research Institute
FRANCJA
GRAND-EST
STRASBOURG
Le syndrome de Bardet-Bield: identification de nouveaux gènes et caractérisation biologique d'un nouveau gène (BBS10)
Faculté de médecine de Strasbourg - Louis Pasteur
Laboratoire de génétique médicale - Unité Inserm U1112
FRANCJA
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
FRANCJA
NOUVELLE AQUITAINE
BORDEAUX
La communication dans le syndrome Prader-Willi : Etude du contrôle émotionnel lié aux troubles du comportement, de leurs répercussions au quotidien et examen de thérapies innovantes
Université Victor Segalen Bordeaux 2
Laboratoire de Psychologie (EA4139)
FRANCJA
OCCITANIE
MONTPELLIER
Diagnostic Prénatal Non Invasif sur Les Cellules Trophoblastiques Foetales en Circulation Isolée (CFTC) pour Les Maladies à Répétition De Triplets
CHU de Montpellier - IURC
Laboratoire de Génétique Moléculaire
FRANCJA
PAYS DE LA LOIRE
NANTES
Corrélation génotype-phénotype et étude de la pénétrance du syndrome FXTAS: étude des porteurs de la prémutation FMR1
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec
Centre d'investigation clinique neuro-psycho-pharmacologie
FRANCJA
PROVENCE-ALPES-COTE D'AZUR
VALBONNE
Physiopathologie du retard mental: syndrome de l' X fragile et retard mental associé au site FRAXE en Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire
Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275
NIEMCY
Berlin
BERLIN
Aufklärung molekularer Mechanismen, die am jObes1 Lokus den juvenilen Fettansatz in der Berliner Fettmaus verursachen
Humboldt-Universität zu Berlin
Fachbereich Züchtungsbiologie und molekulare Genetik
IRLANDIA
County Dublin
DUBLIN
Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin
Institute of Neuroscience
WŁOCHY
FRIULI VENEZIA GIULIA
TRIESTE
miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
WŁOCHY
LAZIO
FIUMICINO
La sindrome di Prader-Willi: aspetti genetici, neuroanatomo funzionali ed endocrino metabolici
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE PALIDORO
U.O. di Endocrinologia
WŁOCHY
LAZIO
ROMA
Studio della patogenesi dei fenomeni autoimmune nelle immunodeficienze primitive
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O. di Immunoinfettivologia Pediatrica
WŁOCHY
LAZIO
ROMA
Characterization of adenosine receptors in a mouse model of fragile X syndrome (FXS)
ISS - Istituto Superiore di Sanità
Centro Nazionale per la Ricerca e la Valutazione preclinica e clinica dei Farmaci
WŁOCHY
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
WŁOCHY
LAZIO
ROMA
Migliorare gli standard di qualità dei laboratori italiani che svolgono test genetici per le malattie rare
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare
WŁOCHY
LOMBARDIA
CUSANO MILANINO
Trasferimento delle nuove tecnologie nella diagnosi corrente di malattie genetiche rare a meccanismi eziopatogenetici multipli
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
JAPONIA
JAPAN
NAGASAKI
Drug Screening and development of rapid diagnostic technique for the DNA methylation abnormality due to the mutation in histone modification enzymes
Atomic Bomb Disease Institute, Nagasaki University
Department of Human Genetics
JAPONIA
JAPAN
TOKYO
Exploration of basic pathogenesis of imprinting disorders
National Center for Child Health and Development
Department of Molecular Endocrinology
JAPONIA
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
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Versterkte litteken vorming in Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Kinderpolikliniek Klinische Genetica
HOLANDIA
Noord-Holland
AMSTERDAM
Etiologie van Rubinstein-Taybi Syndroom
Amsterdam UMC, locatie AMC
Polikliniek Algemene Kindergeneeskunde
NORWEGIA
Østlandet
SIGGERUD
Erfaringer fra personer med Smith-Magenis syndrom - En Q-metodologistudie
Frambu kompetansesenter for sjeldne diagnoser
HISZPANIA
Andalucía
SEVILLA
Investigación biomédica e innovación clínica en distrofias hereditarias de retina: hacia la medicina personalizada en enfermedades raras
Hospital Universitario Virgen del Rocío
Unidad de Medicina Maternofetal, Genética y Reproducción
HISZPANIA
Cataluña
SABADELL
Efecto del tratamiento con hormona de crecimiento sobre la conectividad cerebral y la estructura de las áreas relacionadas con el tono muscular en adultos con síndrome de Prader-Willi
Corporación Sanitaria Parc Taulí. Hospital de Sabadell
Servicio de endocrinología y nutrición
HISZPANIA
Galicia
VIGO
Mecanismos moleculares en ciliopatías
Universidade de Vigo
Grupo de Enfermedades raras
HISZPANIA
Madrid
MADRID
En búsqueda del diagnóstico genético en pacientes con espectro PROS
INGEMM - Instituto de Genética Médica y Molecular (IdiPAZ)
Sección de Genómica Estructural y Funcional
SZWECJA
Region Stockholm
STOCKHOLM
Understanding Genetic Mechanisms in Disorders and Development of Diagnostic Methods
Karolinska Institutet - Solna
Department of Molecular Medicine and Surgery
ZJEDNOCZONE KRÓLESTWO
East Sussex
BRIGHTON
Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV
University of Sussex
DNA double strand break repair laboratory
ZJEDNOCZONE KRÓLESTWO
Greater London
LONDON
The role of transcription factors in regulating expression of BBS (Bardet-Biedl Syndrome) proteins
GOSH NHS Foundatin Trust
Molecular Medicine Unit
ZJEDNOCZONE KRÓLESTWO
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Therapeutics for rare and neglected diseases - science
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cell biology of metabolic disorders
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Return of a fragile x syndrome genetic result: exploring the feedback of individual genetic findings and their relation to traditional knowledge in a village in cameroon.
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Function of c8orf37 in photoreceptors
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Using a disease-affected cell to synthesize its own drug
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of fmrp mediated translational repression
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neural coordination and discoordination in fmr1 null mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Diabetic pregnancies and gastrulation
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Fmr1 premutation phenotypes in population-based & clinically-ascertained samples
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms in diabetic embryopathy
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Impact of cognition on balance and gait markers for fxtas
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Loss and rescue of endocannabinoid-dependent ltp and memory in fragile-x model mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Memory measures for clinical trials in down syndrome and fragile x syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
The effects of parenting on the development and behavior of adolescents with fxs
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Function of slack potassium channels in early onset epilepsy and intellectual disabilities
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic mechanisms regulating the igf2/h19 and kcnq1 locus
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Impact of cgg repeats on fmr1 gene function and human health
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of neocortical and sensory hyperexcitability in fragile x syndrome
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Molecular and synaptic mechanisms of auditory circuit dysfunction in fxs mice
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Potassium channels and dendritic function in hippocampal pyramidal neurons
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Rescuing fragile x syndrome by targeting p70 s6 kinase 1
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Rescuing the fragile x syndrome by cpeb depletion
Institution: Information not provided - US
STANY ZJEDNOCZONE AMERYKI
Washington
ADDRESS: NOT PROVIDED - US
Strategies to rescue pi3k dysregulation in fragile x syndrome
Institution: Information not provided - US
HISZPANIA
Cataluña
BARCELONA
Estudios funcionales y de identificación de estrategias terapéuticas en discapacidad intelectual: TRIM28, TRAF7 y MAGEL2
Universitat de Barcelona. Facultat de Biologia
Departamento de genética molecular humana
ZJEDNOCZONE KRÓLESTWO
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
Wieloośrodkowy projekt badawczy
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
- Département Médecine translationnelle et neurogénétique
- Universitätsklinikum Aachen
- Institut für Humangenetik
- Radboudumc - Radboud universitair medisch centrum
- Afdeling Genetica
- Centro de Regulación Genómica
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
NIEMCY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
FRANCJA
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
Réseau d'étude des retards mentaux et déficits cognitifs monogéniques
NIEMCY
Nordrhein-Westfalen
AACHEN
EUCID.net: Europäisches Netzwerk für angeborene Imprinting-Erkrankungen
HOLANDIA
Gelderland
NIJMEGEN
EURO-MRX: European mental retardation consortium
HISZPANIA
Cataluña
BARCELONA
CUREFXS: targeting Rho-signalling, a new therapeutic avenue in fragile-X syndrome
ZJEDNOCZONE KRÓLESTWO
Cambridgeshire
CAMBRIDGE