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Research projects

Functional analysis of separase-dependent lamins' regulation in AD-EDMD - FR Institut de biologie François Jacob Laboratoire Réparation Et Vieillissement - LREV

OPALE: Laminopathies and emerinopathies patient Observatory Institut de Myologie - Hôpital Pitié-Salpêtrière Centre de Recherche en Myologie

Epigenetic analysis of myonuclei defective in nuclear envelope components in Drosophila muscles as a model for studying Emery-Dreifuss muscular dystrophy Institution: Information not provided - IL

Dissecting the role of chromatin structure and alternative splicing in the development and pathology of Emery-Dreifuss Muscular Distrophy IFOM - Istituto FIRC di Oncologia Molecolare Firc Institute of Molecular Oncology (IFOM)

SIX homeoproteins and muscle stem cells properties Institution: Information not provided - FR

Identifying Cellular and Molecular Modifiers of Muscular Dystrophy University of Calgary Department of Biochemistry and Molecular Biology

Differential role of myogenic regulatory factors in establishing muscle-specific gene expression Ottawa Hospital Research Institute Sprott Center for Stem Cell Research

Satellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease Ottawa Hospital Research Institute Sprott Center for Stem Cell Research

SIX family transcription factors in adult muscle regeneration. University of Ottawa Faculty of Medicine -

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

STEMCIL: Deciphering primary cilia regulated signaling pathways in muscle stem cells Faculté de Médecine Lyon Est PGNM - Pathophysiologie et génétique du neurone et du muscle

Muscular dystrophies: the role of the extracellular matrix Université Claude Bernard Lyon 1

STEMCIL: Deciphering primary cilia regulated signaling pathways in muscle stem cells Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

Pro-inflammatory Cytokines as Potential Therapeutic Target in Type 1 Facioscapulohumeral Muscular Dystrophy: Pilot Study Institution: Information not provided - FR

Identification of factors inducing MuSC expansion from overloaded muscle - FR Institution: Information not provided - FR

Development of an innovative magnetic resonance imaging protocol for the in-depth evaluation of the structure of skeletal muscle tissue in patients with muscular dystrophy Institut de Myologie - Hôpital Pitié-Salpêtrière Laboratoire d'imagerie et de spectroscopie par RMN

Intermuscular adipose tissue as a trigger of muscle wasting? Institut des Maladies Métaboliques et Cardiovasculaires Laboratoire de recherche sur les obésités

The search for genetic clues in muscular dystrophy Aix-Marseille Université

Mechanical signals transduced downstream of the LINC complex-mediated muscular dystrophies Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science Department of Molecular Genetics

Study of the multiple functions of Nfix in Muscular Dystrophies: a focus on macrophage biology Institution: Information not provided - IT

Characterization of pathways regulating cell cycle and muscle-specific transcription during myogenic differentiation: therapeutical implications for muscle regeneration Parco Scientifico Biomedico di Roma San Raffaele Laboratorio di Endocrinologia e Metabolismo Molecolare

Drug repurposing of ERK inhibitors to target the transcription factor Nfix in dystrophic muscles: development of a new proof-of-concept study to hinder Muscular Dystrophies Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche Dipartimento di Bioscienze

GLUD1 as a potential target in Muscular Dystrophy Università degli Studi di Torino Dipartimento di Biotecnologie Molecolari e Scienze Della Vita

Identification of factors inducing MuSC expansion from overloaded muscle - JP Osaka University Graduate School of Medicine

Effect of Nintedanib in muscle fibrosis in a mouse model of sarcoglycanopathy and in the function of human and mouse FAP cells Hospital de la Santa Creu i Sant Pau

Development of novel stem cell-based models to study myogenesis Bewegung und Gesundheit Departement Gesundheitswissenschaften und Technologie Department of Health Sciences and Technology - Laboratory of Regenerative and Movement Biology

In vivo role of the fibroblast in muscular dystrophy Institution: Information not provided - US

IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE Department of Clinical Genetics - University of Tartu Department of Clinical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI Folkhälsan Folkhälsan Research Center

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders Faculté de Médecine Lyon Est Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

IDOLS-G: Improved diagnostic output in large sarcomeric genes - FR Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS Institut de génétique et de biologie moléculaire et cellulaire - IGBMC Département Médecine translationnelle et neurogénétique

IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU Semmelweis University Department of Biophysics and Radiation Biology

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT Università degli Studi di Firenze Dipartimento di Biologia

IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL Amsterdam UMC, locatie VUmc Afdeling Fysiologie

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD) Hospital Universitario La Paz

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins ISS - Istituto Superiore di Sanità Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform Centro de Regulación Genómica Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8 University of Antwerp - UA, Campus Drie Eiken Peripheral Neuropathy Research Group

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations University of Victoria Community Genetics Research Program/Island Medical Program

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases University of Ottawa Faculty of Medicine -

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer Hospital for Sick Children, Research Institute

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant Laboratoire EFCR/Pneumologie

Interplay between cell metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Amino acid metabolism and alternative splicing ENS - Ecole normale supérieure de Lyon Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules Hospices Civils de Lyon

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation Institution: Information not provided - FR

Impact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation. Institution: Information not provided - FR

L'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient Institution: Information not provided - FR

TRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system Faculté de Médecine de Créteil Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders Faculté de Médecine de Créteil Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders Hôpitaux Universitaires Henri Mondor Centre expert de maladie neuro-musculaire

Patient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares CHU Paris IdF Ouest - Hôpital Raymond Poincaré Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders CHU Paris IdF Ouest - Hôpital Raymond Poincaré Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases Institut National de la Santé et de la Recherche Médicale

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease CHU de Nantes CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors CHU de Nantes CHU Nantes

Modelisation and Therapeutic Approaches for Rare Diseases Université de médecine Aix-Marseille Université Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR Université de médecine Aix-Marseille Université Centre de Résonance Magnétique Biologique et Médicale

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL University of Tel-Aviv Dep. of Bio-Medical Engineering

Cellular network driving neuromuscular junction stability Sapienza Università di Roma Università degli Studi di Roma "La Sapienza"

Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin Dipartimento di Biologia e Biotecnologie - Charles Darwin

Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics LUMC - Leids Universitair Medisch Centrum Afdeling Humane Genetica

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste Oslo University Hospital, Ullevaal Oslo University Hospital, Ullevål

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling Fundación Progreso y Salud Área de bioinformática clínica

Development of a repository of genomic analysis workflows Fundación Progreso y Salud Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Centro de Regulación Genómica Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Clínic de Barcelona Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Universitari Vall d'Hebron Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital de la Santa Creu i Sant Pau Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases Hospital Sant Joan de Déu Barcelona Servicio de Laboratorio

Functional analysis of separase-dependent lamins' regulation in AD-EDMD - FR
Institut de biologie François Jacob

Laboratoire Réparation Et Vieillissement - LREV

OPALE: Laminopathies and emerinopathies patient Observatory
Institut de Myologie - Hôpital Pitié-Salpêtrière

Centre de Recherche en Myologie

Epigenetic analysis of myonuclei defective in nuclear envelope components in Drosophila muscles as a model for studying Emery-Dreifuss muscular dystrophy
Institution: Information not provided - IL

Dissecting the role of chromatin structure and alternative splicing in the development and pathology of Emery-Dreifuss Muscular Distrophy
IFOM - Istituto FIRC di Oncologia Molecolare

Firc Institute of Molecular Oncology (IFOM)

SIX homeoproteins and muscle stem cells properties
Institution: Information not provided - FR

Identifying Cellular and Molecular Modifiers of Muscular Dystrophy
University of Calgary

Department of Biochemistry and Molecular Biology

Differential role of myogenic regulatory factors in establishing muscle-specific gene expression
Ottawa Hospital Research Institute

Sprott Center for Stem Cell Research

Satellite Stem Cells from Skeletal Muscle for the Treatment of Neuromuscular Disease
Ottawa Hospital Research Institute

Sprott Center for Stem Cell Research

SIX family transcription factors in adult muscle regeneration.
University of Ottawa

Faculty of Medicine -

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

Service de génétique médicale

STEMCIL: Deciphering primary cilia regulated signaling pathways in muscle stem cells
Faculté de Médecine Lyon Est

PGNM - Pathophysiologie et génétique du neurone et du muscle

Muscular dystrophies: the role of the extracellular matrix
Université Claude Bernard Lyon 1

STEMCIL: Deciphering primary cilia regulated signaling pathways in muscle stem cells
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

Pro-inflammatory Cytokines as Potential Therapeutic Target in Type 1 Facioscapulohumeral Muscular Dystrophy: Pilot Study
Institution: Information not provided - FR

Identification of factors inducing MuSC expansion from overloaded muscle - FR
Institution: Information not provided - FR

Development of an innovative magnetic resonance imaging protocol for the in-depth evaluation of the structure of skeletal muscle tissue in patients with muscular dystrophy
Institut de Myologie - Hôpital Pitié-Salpêtrière

Laboratoire d'imagerie et de spectroscopie par RMN

Intermuscular adipose tissue as a trigger of muscle wasting?
Institut des Maladies Métaboliques et Cardiovasculaires

Laboratoire de recherche sur les obésités

The search for genetic clues in muscular dystrophy
Aix-Marseille Université

Mechanical signals transduced downstream of the LINC complex-mediated muscular dystrophies
Arnold R. Meyer Institute of Biological Sciences, Weizmann Institute of Science

Department of Molecular Genetics

Study of the multiple functions of Nfix in Muscular Dystrophies: a focus on macrophage biology
Institution: Information not provided - IT

Characterization of pathways regulating cell cycle and muscle-specific transcription during myogenic differentiation: therapeutical implications for muscle regeneration
Parco Scientifico Biomedico di Roma San Raffaele

Laboratorio di Endocrinologia e Metabolismo Molecolare

Drug repurposing of ERK inhibitors to target the transcription factor Nfix in dystrophic muscles: development of a new proof-of-concept study to hinder Muscular Dystrophies
Università degli Studi di Milano - Scienze Biomolecolari e Biotecnologiche

Dipartimento di Bioscienze

GLUD1 as a potential target in Muscular Dystrophy
Università degli Studi di Torino

Dipartimento di Biotecnologie Molecolari e Scienze Della Vita

Identification of factors inducing MuSC expansion from overloaded muscle - JP
Osaka University Graduate School of Medicine

Effect of Nintedanib in muscle fibrosis in a mouse model of sarcoglycanopathy and in the function of human and mouse FAP cells
Hospital de la Santa Creu i Sant Pau

Development of novel stem cell-based models to study myogenesis
Bewegung und Gesundheit Departement Gesundheitswissenschaften und Technologie

Department of Health Sciences and Technology - Laboratory of Regenerative and Movement Biology

In vivo role of the fibroblast in muscular dystrophy
Institution: Information not provided - US

IDOLS-G: Improved diagnostic output in large sarcomeric genes - EE
Department of Clinical Genetics - University of Tartu

Department of Clinical Genetics

IDOLS-G: Improved diagnostic output in large sarcomeric genes -FI
Folkhälsan

Folkhälsan Research Center

Characterization of 3D chromatin architecture disruption in chromosomal rearrangements to identify candidate genes in neurodevelopmental disorders
Faculté de Médecine Lyon Est

Institut NeuroMyoGène (INMG) - CNRS UMR 5310 / INSERM U1217

IDOLS-G: Improved diagnostic output in large sarcomeric genes - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

Analysis of parental genomes in individuals with intellectual disability without pathogenic mutation identified by solo WGS
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC

Département Médecine translationnelle et neurogénétique

IDOLS-G: Improved diagnostic output in large sarcomeric genes - HU
Semmelweis University

Department of Biophysics and Radiation Biology

IDOLS-G: Improved diagnostic output in large sarcomeric genes - IT
Università degli Studi di Firenze

Dipartimento di Biologia

IDOLS-G: Improved diagnostic output in large sarcomeric genes - NL
Amsterdam UMC, locatie VUmc

Afdeling Fysiologie

First repository of methylation data from the Spanish reference population and improvement of the epigenetic study in patients with undiagnosed rare diseases (Epi-ENoD)
Hospital Universitario La Paz

Neuroglobin gene overexpression: a promising tool for treating a large spectrum of neurological disorders thanks to its ability to safely and sustainably preserve mitochondrial integrity
Institut National de la Santé et de la Recherche Médicale

Diverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità

Centro Nazionale Malattie Rare

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
Centro de Regulación Genómica

Centro Nacional de Análisis Genómico

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

A preclinical study to treat neuromuscular diseases caused by mutations in the small heat shock protein HSPB8
University of Antwerp - UA, Campus Drie Eiken

Peripheral Neuropathy Research Group

Silent Genomes: Reducing health care disparities and improving diagnostic success for children with genetic diseases from Indigenous populations
University of Victoria

Community Genetics Research Program/Island Medical Program

Inhibition of HDAC6 as Therapeutic Strategy in Neuromuscular Diseases
University of Ottawa

Faculty of Medicine -

Beyond the Genome: Transcriptome Based Diagnostics for Rare Diseases and Cancer
Hospital for Sick Children, Research Institute

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Grenoble Alpes - Site Nord - Hôpital Couple Enfant

Laboratoire EFCR/Pneumologie

Interplay between cell metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Amino acid metabolism and alternative splicing
ENS - Ecole normale supérieure de Lyon

Laboratoire de biologie et modélisation de la cellule - UMR5239

Development and validation study of a Motor Function Measure digitalized playful completion modules
Hospices Civils de Lyon

Impact of pre-phonation inspiratory volume on speech quality of neuromuscular patients requiring non invasive ventilation
Institution: Information not provided - FR

Impact du type d'interface chez les patients neuromusculaires traités par ventilation non invasive nocturne: un essai croisé randomisé
Institution: Information not provided - FR

Impact of blowpipe training on cough efficiency in neuromuscular patients : a prospective evaluation.
Institution: Information not provided - FR

L'annonce diagnostique d'une maladie neuromusculaire à l'âge adulte. Retentissements psychologiques des processus communicationnels entre médecin et patient
Institution: Information not provided - FR

TRANSLAMUSCLE: An integrated translational program from basic research to biotherapies in stem cells and molecular medicine of the neuromuscular system
Faculté de Médecine de Créteil

Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders
Faculté de Médecine de Créteil

Equipe 'Biologie du système neuromusculaire'

An integrated translational program for neuromuscular disorders
Hôpitaux Universitaires Henri Mondor

Centre expert de maladie neuro-musculaire

Patient-ventilator asynchrony in neuromuscular disease: real life evaluation using devices softwares
CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Early identification of respiratory exacerbations using NIV device monitoring in slowly progressive neuromuscular disorders
CHU Paris IdF Ouest - Hôpital Raymond Poincaré

Service de Physiologie-Explorations Fonctionnelles - Consultations Troubles du sommeil

Nuclear genetic suppressors in yeast models of mtDNA mutations associated to neuromuscular diseases
Institut National de la Santé et de la Recherche Médicale

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - FR
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière

Equipe "Traitement de la sclérose latérale amyotrophique : de la génétique au poisson zèbre"

ExoMS: a 3D printed exoskeleton with springs to enhance upper limb mobility of children with neuromuscular disease
CHU de Nantes

CHU Nantes

New modulators of the skeletal and cardiac ryanodine receptors
CHU de Nantes

CHU Nantes

Modelisation and Therapeutic Approaches for Rare Diseases
Université de médecine Aix-Marseille Université

Centre de Génétique de Marseille (Marseille Medical Genetics - MMG)

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - FR
Université de médecine Aix-Marseille Université

Centre de Résonance Magnétique Biologique et Médicale

A quantitative MRI platform for simultaneous and automatic quantification of fat infiltration and T2 relaxation times in neuromuscular disorders - IL
University of Tel-Aviv

Dep. of Bio-Medical Engineering

Cellular network driving neuromuscular junction stability
Sapienza Università di Roma

Università degli Studi di Roma "La Sapienza"

Unraveling HSPB3 physiological functions to understand its implication in neuromuscular diseases
Sapienza Università di Roma - Dip. di Biologia e Biotecnologie Charles Darwin

Dipartimento di Biologia e Biotecnologie - Charles Darwin

Understanding histopathological alterations in neuromuscular disorders by spatial transcriptomics
LUMC - Leids Universitair Medisch Centrum

Afdeling Humane Genetica

Mekanisk hostestøtte for barn med nevromuskulær sykdom og svak hoste
Oslo University Hospital, Ullevaal

Oslo University Hospital, Ullevål

Development of bioinformatic tools for the automatic handling of secondary findings and their use in genetic and pharmacogenetic counseling
Fundación Progreso y Salud

Área de bioinformática clínica

Development of a repository of genomic analysis workflows
Fundación Progreso y Salud

Área de bioinformática clínica

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Centro de Regulación Genómica

Archivo europeo de genomas y fenomas del CRG

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Clínic de Barcelona

Servicio de Inmunologia

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari Vall d'Hebron

Laboratorio de Genética

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital de la Santa Creu i Sant Pau

Servicio de Genética

Federated network for functional genomics of undiagnosed and rare diseases, RareFunction
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu

Grupo de Neurogenética y Medicina Molecular

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Sant Joan de Déu Barcelona

Servicio de Laboratorio

Catalan Interhospital Network of Genetic Variants to improve genetic diagnosis in rare diseases
Hospital Universitari de Bellvitge

Unidad de Genética Molecular

Identification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre

Grupo de Enfermedades raras, mitocondriales y neuromusculares

Implementation of an artificial intelligence module on the web-based digital platform MyoShare for guiding the diagnosis of muscle diseases.
University of Newcastle

John Walton Muscular Dystrophy Research Centre

sPAM: Developing peptide-based drugs to target ataxin-2 in neuromuscular disease - US
Stanford University School of Medicine

Department of Genetics