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256 Progetti di ricerca
25 Progetti di ricerca multicentrici

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FINLANDIA

Finland
HELSINKI

FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

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GIAPPONE

JAPAN
KYOTO

Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

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IRLANDA

County Dublin
DUBLIN

Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin

Institute of Neuroscience

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ITALIA

VENETO
PADOVA

La regolazione del cloro intracellulare nel cervello autistico: dalla ricerca di base alla identificazione di nuovi bersagli farmacologici
CNR - Istituto di Neuroscienze

Istituto di Neuroscienze

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NORVEGIA

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

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REGNO UNITO; GRAN BRETAGNA

West Midlands
BIRMINGHAM

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

Diabetes Unit

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SVEZIA

Region Stockholm
HUDDINGE

Oxysterols in health and disease
Karolinska Institutet

Department of laboratory medicine (LABMED)

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SVEZIA

Region Stockholm
SOLNA

Molecular and functional studies of Scc2 and Scc4 in DNA repair, Gene regulation and Genome integrity in Cornelia de Lange syndrome
Karolinska Institutet

Department of Cell and Molecular Biology (CMB)

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SVEZIA

Region Stockholm
SOLNA

Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet

Department of Molecular Medicine and Surgery (MMK)

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SVEZIA

Region Västra Götaland
GÖTEBORG

TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome - SE
Göteborgs Universitet

Department of Chemistry & Molecular Biology

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UNGHERIA

Közép-Magyarország
BUDAPEST

PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University

Department of Biophysics and Radiation Biology

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STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

The role of dystroglycan in neural circuit development.
Institution: Information not provided - US

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STATI UNITI

Washington
ADDRESS: NOT PROVIDED - US

Functional mechanisms underlying dystroglycan-dependent and independent roles of protein o-mannosylation in the nervous system
Institution: Information not provided - US

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ITALIA

VENETO
PADOVA

Brains for brain: gruppo di ricerca della task force europea sulle malattie cerebrali e neurodegenerative da accumulo lisosomiale

Azienda Ospedaliera di Padova

Clinica Pediatrica

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Cerca un progetto di ricerca

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281 Risultato/i

Progetti di ricerca

IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - AT IST Austria Institute of Science and Technology Austria

Pharmacological rescue of creatine transporter-1 variants Medizinische Universität Wien Zentrum für Physiologie und Pharmakologie

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -BE Institution: Information not provided - BE

RIBOEUROPE: The European Ribosomopathy Consortium - BE Biopark campus The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

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

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

Investigating the structure and function of the human autophagy regulator EPG5 University of British Columbia Department of Biochemistry & Molecular Biology

Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes University of British Columbia CFRI - Child and Family Research Institute

Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome Hospital for Sick Children, Research Institute

iPS cells to model vascular disease in patients with Williams Beuren syndrome Hospital for Sick Children, Research Institute

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

Functional Dissection of Small RNA Pathways that Impact Chromatin University of Toronto Department of Molecular Genetics

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CA Institution: Information not provided - CA

Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill Department of pathology

Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42 McGill University - Dentistry Building Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2 Montreal Children's Hospital Research Institute - McGill University Department of Pediatrics / Département de pédiatrie

Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome The Douglas Research Centre Human Neuroscience

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes CIUSSS de l'Estrie - CHUS Fleurimont Service de génétique médicale

FinnDisMice- Mouse Models for Finnish Disease Heritage University of Helsinki

Role of minor splicing in brain development CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant Equipe GENDEV - Génétique des anomalies du neurodéveloppement

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

Mechanisms underlying neural phenotypes of cholesterol synthesis disorders Faculty of Medicine and University Hospital Motol Department of Pediatrics

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma CHU de Dijon - Plateau technique de Biologie Laboratoire de génétique chromosomique et moléculaire

RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1) Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Biologie du développement et cellules souches

Study of the regulation of diacylglycerol kinase activity by FMRP and its deregulation in Fragile X syndrome disease Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR CHU de Strasbourg - Hôpital de Hautepierre Service de Neuropédiatrie

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

RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Partner 2) Faculté de médecine de Strasbourg - Louis Pasteur iCube CSTB

PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR Institut des sciences de l'ingénierie et des systèmes UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)

Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders Institution: Information not provided - FR

Food practices socialization of children with Prader-Willi syndrom Institution: Information not provided - FR

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII) CHU Paris - Hôpital Robert Debré UF de Génétique clinique

METAFRAX: Investigation of synaptic plasticity in Fragile X syndrome CNRS - Centre national de la recherche scientifique Centre National de la Recherche Scientifique

RIBOEUROPE: The European Ribosomopathy Consortium - FR Faculté de Médecine Paris Diderot Paris 7 - site Bichat Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype? GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Laboratoire d'hématologie

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis Service d'hématologie pédiatrique

dissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients IMAGINE - Institut des Maladies Génétiques Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"

Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging. Institut Pasteur Cellules souches et Développement - CNRS UMR3738

Regulatory networks governing the diversity of craniofacial muscles Institut Pasteur

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"

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

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

At the origins of anemia and thrombocytopenia in Fanconi anemia. CLCC Institut Gustave Roussy 4Rs : Replication, Repair, Recombination and ROS

Exploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders CHU de Montpellier - Hôpital Arnaud de Villeneuve Equipe Maladies Génétiques de l'Enfant et de l'Adulte

ZEPIKAB: Zebrafish: a model to test the therapeutic potential of epidrugs on complex Kabuki phenotypes - FR CHU de Montpellier - Hôpital Saint-Eloi INSERM U1183 "Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies"

IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - FR Institut de Génétique Humaine (IGH) Chromatin and cell biology

Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers CHU de Nantes - Hôpital Nord Guillaume et René Laënnec Centre d'investigation clinique neuro-psycho-pharmacologie

Translational investigation of Neurodevelopmental Disorders caused by impairment of the Ubiquitin-Proteasome System Université de Nantes L'unité de recherche de l'institut du thorax

HETER-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

Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome Parc scientifique et technologiques de Luminy INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

Necdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome Parc scientifique et technologiques de Luminy INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28 IPMC - Institut de Pharmacologie Moléculaire et Cellulaire Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

New therapeutic targets in Fragile X Syndrome IPMC - Institut de Pharmacologie Moléculaire et Cellulaire Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

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

RIBOEUROPE: The European Ribosomopathy Consortium -DE Zentrum für Kinder- und Jugendmedizin Freiburg Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitäts-Frauenklinik Heidelberg Frauenheilkunde und Geburtshilfe

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns Universitätsklinik für Kinder- und Jugendmedizin Tübingen Abteilung für Neonatologie

Understanding the molecular and cellular pathways in PURA Syndrome Helmholtz Zentrum München Institut für Strukturbiologie - AG Niessing

ADDRess: Translational research for patients with abnormal DNA Damage Response Universität Würzburg - Biozentrum Institut für Humangenetik

Observational Clinical Study of Muenke Syndrome: Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome Universitätsklinikum Würzburg Sektion für Pädiatrische Neurochirurgie

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

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome UKE - Universitätsklinikum Hamburg-Eppendorf Institut für Humangenetik

Identification of new monogenic disease genes by means of Next Generation Sequencing UKE - Universitätsklinikum Hamburg-Eppendorf Institut für Humangenetik

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches Paul-Ehrlich-Institut Abteilung Medizinische Biotechnologie

Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol CENTOGENE GmbH

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

A long-read genome sequencing approach to identify novel genes associated with accelerated aging phenotypes Institut für Humangenetik der Universität Göttingen Institut für Humangenetik

ADDRess: Translational research for patients with abnormal DNA Damage Response Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome -DE Rheinisch-Westfälische Technische Hochschule Aachen Joint Research Center for Computational Biomedicine

2020-2019-HUM-ADULT: Characterisation of the clinical picture of adults with rare genetic syndromes Heinrich-Heine-Universität Düsseldorf Institut für Humangenetik

ADDRess: Translational research for patients with abnormal DNA Damage Response Universitätsklinikum Düsseldorf Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination) CECAD Research Center Exzellenzcluster CECAD in der Universität zu Köln

PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure -DE Universitätsklinikum des Saarlandes Institut für Experimentelle Orthopädie und Arthroseforschung

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -DE Martin-Luther-Universität Halle-Wittenberg Profilzentrum Gesundheitswissenschaften

IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - AT
IST Austria

Institute of Science and Technology Austria

Pharmacological rescue of creatine transporter-1 variants
Medizinische Universität Wien

Zentrum für Physiologie und Pharmakologie

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -BE
Institution: Information not provided - BE

RIBOEUROPE: The European Ribosomopathy Consortium - BE
Biopark campus

The 'RNA Metabolism' Lab - Université Libre de Bruxelles (ULB)

Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta

Department of Pediatrics, Division of Endocrinology and Metabolism

Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta

Department of Pediatrics, Division of Endocrinology and Metabolism

Investigating the structure and function of the human autophagy regulator EPG5
University of British Columbia

Department of Biochemistry & Molecular Biology

Mutational analysis of EZH2 in patients with Weaver and Weaver-like syndromes
University of British Columbia

CFRI - Child and Family Research Institute

Pathobiology and robosomal insufficiency in Shwachman-Diamond syndrome
Hospital for Sick Children, Research Institute

iPS cells to model vascular disease in patients with Williams Beuren syndrome
Hospital for Sick Children, Research Institute

Deciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital

Lunenfeld-Tanenbaum Research Institute

Functional Dissection of Small RNA Pathways that Impact Chromatin
University of Toronto

Department of Molecular Genetics

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -CA
Institution: Information not provided - CA

Developing retinal gene augmentation therapy for Zellweger Spectrum Disorder
Glen / McGill Univeristy Health Centre - Centre Universitaire de santé McGill

Department of pathology

Molecular mechanisms of CdGAP, a negative regulator of the oncogenic small GTPases Rac1 and Cdc42
McGill University - Dentistry Building

Département d'Anatomie et Biologie Cellulaire / Department of Anatomy and Cell Biology

The genetic basis of atypical anomalies in contiguous gene syndrome: The case of 22q11.2
Montreal Children's Hospital Research Institute - McGill University

Department of Pediatrics / Département de pédiatrie

Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome
The Douglas Research Centre

Human Neuroscience

Clinical exome sequencing for molecular diagnosis of polymalformative syndromes
CIUSSS de l'Estrie - CHUS Fleurimont

Service de génétique médicale

FinnDisMice- Mouse Models for Finnish Disease Heritage
University of Helsinki

Role of minor splicing in brain development
CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant

Equipe GENDEV - Génétique des anomalies du neurodéveloppement

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

Mechanisms underlying neural phenotypes of cholesterol synthesis disorders
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

Noninvasive prenatal aneuploidy testing by targeted massively parallel sequencing of maternal plasma
CHU de Dijon - Plateau technique de Biologie

Laboratoire de génétique chromosomique et moléculaire

RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Parner 1)
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Biologie du développement et cellules souches

Study of the regulation of diacylglycerol kinase activity by FMRP and its deregulation in Fragile X syndrome disease
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

TC NER: Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases - FR
CHU de Strasbourg - Hôpital de Hautepierre

Service de Neuropédiatrie

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

RAinRARE: Integrated analyses of retinoic acid signaling to understand and treat rare form of progressive motor impairment - FR (Partner 2)
Faculté de médecine de Strasbourg - Louis Pasteur

iCube CSTB

PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure - FR
Institut des sciences de l'ingénierie et des systèmes

UMR7365 Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA)

Participatory process to understand and improve augmentative and alternative communication of people with a rare neurogenetic disorders
Institution: Information not provided - FR

Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR

Microcephaly, Fanconi Anemia and Praxial Disorders (MicroFancII)
CHU Paris - Hôpital Robert Debré

UF de Génétique clinique

METAFRAX: Investigation of synaptic plasticity in Fragile X syndrome
CNRS - Centre national de la recherche scientifique

Centre National de la Recherche Scientifique

RIBOEUROPE: The European Ribosomopathy Consortium - FR
Faculté de Médecine Paris Diderot Paris 7 - site Bichat

Centre de Recherche sur l'Inflammation (UMR 1149 Inserm - Université Paris Diderot - ERL CNRS 8252)

FANEDIT: Gene editing as a novel therapeutic strategy in Fanconi anemia - FR
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

Dysfunctional hematopoietic stem cells and clonal hematopoiesis in Fanconi Anemia: what underlies an attenuated phenotype?
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Laboratoire d'hématologie

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
GHU AP-HP Nord. Université de Paris - Hôpital Saint-Louis

Service d'hématologie pédiatrique

dissection of molecular bases of myhre syndrome : identification of new genes in pre-screened patients
IMAGINE - Institut des Maladies Génétiques

Equipe "Bases moléculaires et physiopathologiques des chondrodysplasies"

Defects in mitochondria and proteases in the cells of Cockayne's progeroid syndrome and during processes associated with aging.
Institut Pasteur

Cellules souches et Développement - CNRS UMR3738

Regulatory networks governing the diversity of craniofacial muscles
Institut Pasteur

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"

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

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

At the origins of anemia and thrombocytopenia in Fanconi anemia.
CLCC Institut Gustave Roussy

4Rs : Replication, Repair, Recombination and ROS

Exploiting epigenome editing in Kabuki syndrome: a new route towards gene therapy for rare genetic disorders
CHU de Montpellier - Hôpital Arnaud de Villeneuve

Equipe Maladies Génétiques de l'Enfant et de l'Adulte

ZEPIKAB: Zebrafish: a model to test the therapeutic potential of epidrugs on complex Kabuki phenotypes - FR
CHU de Montpellier - Hôpital Saint-Eloi

INSERM U1183 "Cellules souches, plasticité cellulaire, médecine régénératrice et immunothérapies"

IMPACT: Identification of converging Molecular Pathways Across Chromatinopathies as Targets for Therapy - FR
Institut de Génétique Humaine (IGH)

Chromatin and cell biology

Genotype-phenotype correlation and penetrance study of the FXTAS: premutation carriers
CHU de Nantes - Hôpital Nord Guillaume et René Laënnec

Centre d'investigation clinique neuro-psycho-pharmacologie

Translational investigation of Neurodevelopmental Disorders caused by impairment of the Ubiquitin-Proteasome System
Université de Nantes

L'unité de recherche de l'institut du thorax

HETER-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

Proof-of-concept viral-mediated Necdin gene therapy to cure respiratory alterations in Prader-Willi Syndrome
Parc scientifique et technologiques de Luminy

INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

Necdin gene therapy to restore normal breathing in a mouse model of Prader-Willi syndrome
Parc scientifique et technologiques de Luminy

INMED -Institut de Neurobiologie de la Méditerranée - UMR1249

Pathophysiology of mental retardation: Fragile X syndrome and mental retardation associated with the FRAXE site on Xq28
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire

Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

New therapeutic targets in Fragile X Syndrome
IPMC - Institut de Pharmacologie Moléculaire et Cellulaire

Institut de Pharmacologie Moléculaire et Cellulaire - IPMC UMR7275

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

RIBOEUROPE: The European Ribosomopathy Consortium -DE
Zentrum für Kinder- und Jugendmedizin Freiburg

Klinik für Pädiatrische Hämatologie und Onkologie

ADDRess: Translational research for patients with abnormal DNA Damage Response
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitäts-Frauenklinik Heidelberg

Frauenheilkunde und Geburtshilfe

ESPED-study: Omphaloceles and Associated Malformations in Preterm and Term Newborns
Universitätsklinik für Kinder- und Jugendmedizin Tübingen

Abteilung für Neonatologie

Understanding the molecular and cellular pathways in PURA Syndrome
Helmholtz Zentrum München

Institut für Strukturbiologie - AG Niessing

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universität Würzburg - Biozentrum

Institut für Humangenetik

Observational Clinical Study of Muenke Syndrome: Cognitive Function, Development, and Hearing in Patients with Muenke Syndrome
Universitätsklinikum Würzburg

Sektion für Pädiatrische Neurochirurgie

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

Molecular and functional investigation on microphthalmia with linear skin defects (MLS) - syndrome
UKE - Universitätsklinikum Hamburg-Eppendorf

Institut für Humangenetik

Identification of new monogenic disease genes by means of Next Generation Sequencing
UKE - Universitätsklinikum Hamburg-Eppendorf

Institut für Humangenetik

Preclinical Gene Therapy of Fanconi Anemia with Transposon-Based Approaches
Paul-Ehrlich-Institut

Abteilung Medizinische Biotechnologie

Biomarker for Hurler disease (BioHurler): An International, multicentre, epidemiological protocol
CENTOGENE GmbH

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

A long-read genome sequencing approach to identify novel genes associated with accelerated aging phenotypes
Institut für Humangenetik der Universität Göttingen

Institut für Humangenetik

ADDRess: Translational research for patients with abnormal DNA Damage Response
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

TREAT-SGS: Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome -DE
Rheinisch-Westfälische Technische Hochschule Aachen

Joint Research Center for Computational Biomedicine

2020-2019-HUM-ADULT: Characterisation of the clinical picture of adults with rare genetic syndromes
Heinrich-Heine-Universität Düsseldorf

Institut für Humangenetik

ADDRess: Translational research for patients with abnormal DNA Damage Response
Universitätsklinikum Düsseldorf

Institut für Pathologie

TC NER : Transcription stress Counteracted by Nutritional interventions of Exceptional importance for rare DNA Repair diseases (coordination)
CECAD Research Center

Exzellenzcluster CECAD in der Universität zu Köln

PHYSPATH-KS: Understanding the pathophysiology of Keutel Syndrome: A path towards cure -DE
Universitätsklinikum des Saarlandes

Institut für Experimentelle Orthopädie und Arthroseforschung

eCare-22q11.2 - Evaluating Parent Perceptions, Economic Burden and the Impact of Online Coaching Interventions for Parents of Children Diagnosed with the 22q11 Deletion Syndrome -DE
Martin-Luther-Universität Halle-Wittenberg

Profilzentrum Gesundheitswissenschaften

Development of novel therapeutics for Fibrodysplasia Ossficancs Progressiva
Institute for Frontier Life and Medical Sciences, Kyoto University

Conformational triggers, Mechanisms and Pathways for Neurodegenerative Disease
Trinity College Dublin

Institute of Neuroscience

Ricerca di mutazioni nel gene KDM5C mutato in pazienti affetti da autismo e disabilità intellettiva
Istituto di Genetica e Biofisica "Adriano Buzzati Traverso" - CNR

Human Molecular Neurogenetics Laboratoty

miRNA nella sindrome di Prader-Willi
Area Scienze Park - Campus di Basovizza

Centro Studi Fegato