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Research projects

Molecular and functional pathogenesis in NF1 and related diseases UZ Leuven - Campus Gasthuisberg Centrum Menselijke Erfelijkheid - UZ Leuven

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

Neurofibromatosis type 1 Disease Model Faculty of Medicine and University Hospital Motol Department of Pediatrics

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases AP-HP.Centre - Université de Paris - Hôpital Cochin Service de Médecine Génomique des Maladies de Système et d'Organe

Impact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1 Instituto de Investigación Germans Trias i Pujol Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Non-cell-autonomous circadian regulation of brain function UNIGE Université de Genève Département de Génétique et Evolution

Targeting tumors with nf1 loss Institution: Information not provided - US

Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis Institution: Information not provided - US

Mechanisms of nf1 pathophysiology underlying hyperactivity Institution: Information not provided - US

Social competence in youth with neurofibromatosis type 1 Institution: Information not provided - US

NSEURONET: European network on Noonan syndrome and related disorders - FR CHU Paris - Hôpital Robert Debré UF de Génétique Moléculaire

Li-Fraumeni syndrome-cancer predisposition syndrome registry Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

GeNeRARe: German Network for RASopathies Institute of Comparative Molecular Endocrinology der Universität Ulm Cirstea Lab

Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations UKE - Universitätsklinikum Hamburg-Eppendorf Institut für Humangenetik

GeNeRARe: German Network for RASopathies UKE - Universitätsklinikum Hamburg-Eppendorf Institut für Humangenetik

GeNeRARe: German Network for RASopathies Universitätsmedizin Göttingen Klinik für Thorax-, Herz- und Gefäßchirurgie

Li-Fraumeni syndrome-cancer predisposition syndrome registry Medizinische Hochschule Hannover Klinik für Pädiatrische Hämatologie und Onkologie

GeNeRARe: German Network for RASopathies Heinrich-Heine-Universität Düsseldorf Institut für Biochemie und Molekularbiologie II

NSEuroNet: European network on noonan syndrome and related disorders -DE Heinrich-Heine-Universität Düsseldorf Institut für Biochemie und Molekularbiologie II

GeNeRARe: German Network for RASopathies Otto-von-Guericke-Universität Magdeburg Abteilung Genetik & Molekulare Neurobiologie

Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations Universitätsklinikum Magdeburg A.ö.R Institut für Humangenetik

NSEuroNet: European network on noonan syndrome and related disorders -DE Universitätsklinikum Magdeburg A.ö.R Institut für Humangenetik

PanCareSurPass: PanCare studies of the scale-up and implementation of the digital Survivorship Passport to improve people-centred care for childhood cancer survivors - AT Gesundheit Österreich GmbH

Christian Doppler Laboratory for Next Generation CAR-T Cells St. Anna Kinderkrebsforschung Children's Cancer Research Institute

Instand-NGS4P: Integrated and standardized NGS workflows for Personalised therapy - AT St. Anna Kinderkrebsforschung

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression Hôpital Universitaire des Enfants Reine Fabiola - HUDERF Dermatologie

Follow-up of Fertility in Young Adults Who Did or Did Not Store Testicular Tissue Before Gonadotoxic Treatment for Fertility Preservation Universitair Ziekenhuis Brussel Universitair Ziekenhuis Brussel (UZ Brussel)

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

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

Rho GTPases and rare skin diseases IMAGINE - Institut des Maladies Génétiques Institut IMAGINE - INSERM U1163

ERA-NET TRANSCAN: BRCAddict - BRCAness as a therapeutic target for solid high-risk childhood tumors Deutsches Krebsforschungszentrum KITZ - Hopp-Kindertumorzentrum Heidelberg

Modulating BMP axis to prevent muscle loss, dismantling of NMJ and denervation in cancer cachexia Venetian Institute of Molecular Medicine Fondazione per la ricerca Biomedica avanzata ONLUS

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children Oslo University Hospital, Ullevaal NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Theraputic drug monitoring of patients across the ages at a referral center SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

Noninvasive dynamic neuroimaging in epilepsy Instituto Superior Técnico LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Clinical, genetic and allelic heterogeneity of early-onset hereditary kidney diseases: novel molecular causes of congenital anomalies of the kidney and urinary tract Fundació Puigvert Laboratorio de Biología Molecular

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases ISCIII - Instituto de Salud Carlos III Centro de Investigación Biomédica en Red de Enfermedades Raras

A powerful web-based discovery platform for rare disease genetics Institution: Information not provided - US

Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: the kidscanseq study Institution: Information not provided - US

Personalized whole body staging for children with cancer: a solution to the conundrum of long-term side effects from ct and pet/ct scans Institution: Information not provided - US

Project 1: optimization of therapeutic approaches for children with relapsed sarcomas using precision medicine. Institution: Information not provided - US

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT Kepler Universitätsklinikum - Med Campus IV. Universitätsklinik für Kinder- und Jugendheilkunde

Detection and simulation of femoroacetabular impingement University of Ottawa School of Electrical Engineering and Computer Science (EECS)

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

Establishment of a scalable semantic data architecture for study of chronic disease Trinity College Dublin ADAPT Centre

Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources Trinity College Dublin School of Computer Science and Statistcs - O'Reilly Institute

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 ISGlobal - Instituto de Salud Global de Barcelona Programa de investigación en Enfermedades no transmisibles y medio ambiente

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases Hospital Universitario Fundación Jiménez Díaz Servicio de Genética Clínica

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE) Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research Newcastle University Institute of Genetic Medicine

Multicentric Research projects

TAG: TogetherAgainstGenodermatoses - amélioration des soins de santé et assistance sociale pour les patients et les familles touchées par les génodermatoses sévères Fondation René Touraine Institut de Recherche sur la Peau, Fondation René Touraine

RASopathy network: disorders of the Ras-MAPK pathway Department of Health

NsEuroNet: European network on Noonan syndrome and related disorders IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO A.R. Genetica e Malattie Rare

NSEURONET: European network on Noonan syndrome and related disorders IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO A.R. Genetica e Malattie Rare

ExPO-r-Net: European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment St. Anna Kinderkrebsforschung Children's Cancer Research Institute

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells Institut Curie Macromolécules et Microsystèmes en Biologie et en Medecine

EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies Hertie-Institut für klinische Hirnforschung (HIH) Abteilung für Neurologie mit Schwerpunkt Epileptologie

TORPEDO: Targeting Of Resistance in PEDiatric Oncology Institution: Information not provided - DE

TRANSCAN-2: Aligning national/regional translational cancer research programmes and activities Institution: Information not provided - IT

GENESKIN: European network on rare genetic skin diseases Istituto Dermopatico dell'Immacolata - IRCCS Laboratorio di Biologia Molecolare e Cellulare

RARECARE: surveillance of rare cancers in Europe Fondazione IRCCS Istituto Nazionale dei Tumori S.S. di Epidemiologia Valutativa

RARECARENet: Network informativo sui tumori rari Fondazione IRCCS Istituto Nazionale dei Tumori S.S. di Epidemiologia Valutativa

EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use The National Hospital For Neurology and Neurosurgery Department of Clinical and Experimental Epilepsy

EPOC: European paediatric oncology off-patent medicines consortium Northern Institute for Cancer Research, Medical School, Newcastle University Northern Institute for Cancer Research

EUNEFRON: the European network for the study of orphan nephropathies Cliniques universitaires Saint-Luc - UCLouvain Laboratory of Nephrology

EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED) Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie

HELICAL - Health Data Linkage for Clinical Benefit Trinity College Dublin ADAPT Centre

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases Azienda Ospedaliera di Padova Clinica Pediatrica

International Clearinghouse for Birth Defects Monitoring Systems Universitätsklinikum Magdeburg A.ö.R MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Molecular and functional pathogenesis in NF1 and related diseases
UZ Leuven - Campus Gasthuisberg

Centrum Menselijke Erfelijkheid - UZ Leuven

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

Institute of Biomedicine

Neurofibromatosis type 1 Disease Model
Faculty of Medicine and University Hospital Motol

Department of Pediatrics

Implementation of non-invasive prenatal diagnosis of rare and severe monogenic diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin

Service de Médecine Génomique des Maladies de Système et d'Organe

Impact of cellular, genetic and epigenetic heterogeneity in the progression and treatment of peripheral nervous system tumors associated to Neurofibromatosis type 1
Instituto de Investigación Germans Trias i Pujol

Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Non-cell-autonomous circadian regulation of brain function
UNIGE Université de Genève

Département de Génétique et Evolution

Targeting tumors with nf1 loss
Institution: Information not provided - US

Molecular and signaling mechanisms of peripheral nerve sheath tumorigenesis
Institution: Information not provided - US

Mechanisms of nf1 pathophysiology underlying hyperactivity
Institution: Information not provided - US

Social competence in youth with neurofibromatosis type 1
Institution: Information not provided - US

NSEURONET: European network on Noonan syndrome and related disorders - FR
CHU Paris - Hôpital Robert Debré

UF de Génétique Moléculaire

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

GeNeRARe: German Network for RASopathies
Institute of Comparative Molecular Endocrinology der Universität Ulm

Cirstea Lab

Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
UKE - Universitätsklinikum Hamburg-Eppendorf

Institut für Humangenetik

GeNeRARe: German Network for RASopathies
UKE - Universitätsklinikum Hamburg-Eppendorf

Institut für Humangenetik

GeNeRARe: German Network for RASopathies
Universitätsmedizin Göttingen

Klinik für Thorax-, Herz- und Gefäßchirurgie

Li-Fraumeni syndrome-cancer predisposition syndrome registry
Medizinische Hochschule Hannover

Klinik für Pädiatrische Hämatologie und Onkologie

GeNeRARe: German Network for RASopathies
Heinrich-Heine-Universität Düsseldorf

Institut für Biochemie und Molekularbiologie II

NSEuroNet: European network on noonan syndrome and related disorders -DE
Heinrich-Heine-Universität Düsseldorf

Institut für Biochemie und Molekularbiologie II

GeNeRARe: German Network for RASopathies
Otto-von-Guericke-Universität Magdeburg

Abteilung Genetik & Molekulare Neurobiologie

Identification of new disease genes for neuro-cardio-facio-cutaneous syndromes by whole exome sequencing and further investigation by functional analysis of pathogenic mutations
Universitätsklinikum Magdeburg A.ö.R

Institut für Humangenetik

NSEuroNet: European network on noonan syndrome and related disorders -DE
Universitätsklinikum Magdeburg A.ö.R

Institut für Humangenetik

PanCareSurPass: PanCare studies of the scale-up and implementation of the digital Survivorship Passport to improve people-centred care for childhood cancer survivors - AT
Gesundheit Österreich GmbH

Christian Doppler Laboratory for Next Generation CAR-T Cells
St. Anna Kinderkrebsforschung

Children's Cancer Research Institute

Instand-NGS4P: Integrated and standardized NGS workflows for Personalised therapy - AT
St. Anna Kinderkrebsforschung

GENODERM: Development of a Genetic Analysis Method by Mendeliomes and Genomes in the Diagnosis of Genodermatoses and Rare Genetic Diseases With Cutaneous Expression
Hôpital Universitaire des Enfants Reine Fabiola - HUDERF

Dermatologie

Follow-up of Fertility in Young Adults Who Did or Did Not Store Testicular Tissue Before Gonadotoxic Treatment for Fertility Preservation
Universitair Ziekenhuis Brussel

Universitair Ziekenhuis Brussel (UZ Brussel)

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

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

Rho GTPases and rare skin diseases
IMAGINE - Institut des Maladies Génétiques

Institut IMAGINE - INSERM U1163

ERA-NET TRANSCAN: BRCAddict - BRCAness as a therapeutic target for solid high-risk childhood tumors
Deutsches Krebsforschungszentrum

KITZ - Hopp-Kindertumorzentrum Heidelberg

Modulating BMP axis to prevent muscle loss, dismantling of NMJ and denervation in cancer cachexia
Venetian Institute of Molecular Medicine

Fondazione per la ricerca Biomedica avanzata ONLUS

Diet, Gut Microbiota and Epigenetics - Identification of factors associated with successful dietary treatment of epilepsy in children
Oslo University Hospital, Ullevaal

NevSom - Nasjonalt kompetansesenter for nevroutviklingsforstyrrelser og hypersomier

Theraputic drug monitoring of patients across the ages at a referral center
SSE - Spesialistsykehuset for epilepsi, Oslo University Hospital

NK-SE - Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser

Noninvasive dynamic neuroimaging in epilepsy
Instituto Superior Técnico

LaSEEB-Evolutionary Systems and Biomedical Engineering Lab

Clinical, genetic and allelic heterogeneity of early-onset hereditary kidney diseases: novel molecular causes of congenital anomalies of the kidney and urinary tract
Fundació Puigvert

Laboratorio de Biología Molecular

Mechanistic models using Machine Learning for therapeutic targets discovery and drug repurposing in Rare Diseases
ISCIII - Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red de Enfermedades Raras

A powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: the kidscanseq study
Institution: Information not provided - US

Personalized whole body staging for children with cancer: a solution to the conundrum of long-term side effects from ct and pet/ct scans
Institution: Information not provided - US

Project 1: optimization of therapeutic approaches for children with relapsed sarcomas using precision medicine.
Institution: Information not provided - US

EuRR-Bone: European Registry for Rare Bone and Mineral Conditions - AT
Kepler Universitätsklinikum - Med Campus IV.

Universitätsklinik für Kinder- und Jugendheilkunde

Detection and simulation of femoroacetabular impingement
University of Ottawa

School of Electrical Engineering and Computer Science (EECS)

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

Establishment of a scalable semantic data architecture for study of chronic disease
Trinity College Dublin

ADAPT Centre

Ensemble averaging for complex disease prediction in the large p small n domain from multiple data sources
Trinity College Dublin

School of Computer Science and Statistcs - O'Reilly Institute

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
ISGlobal - Instituto de Salud Global de Barcelona

Programa de investigación en Enfermedades no transmisibles y medio ambiente

RAREGenomics: Network of Genomic, Functional, Clinical and Therapeutic Resources for the Study of Rare Neurological Diseases
Hospital Universitario Fundación Jiménez Díaz

Servicio de Genética Clínica

EUROlinkCAT: Establishing a linked European Cohort of Children with Congenital Anomalies (partner DE)
Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt

Human Developmental Biology Resource (HDBR): an embryonic and fetal tissue bank for functional genetics and cell-based research
Newcastle University

Institute of Genetic Medicine

TAG: TogetherAgainstGenodermatoses - amélioration des soins de santé et assistance sociale pour les patients et les familles touchées par les génodermatoses sévères

Fondation René Touraine

Institut de Recherche sur la Peau, Fondation René Touraine

RASopathy network: disorders of the Ras-MAPK pathway

Department of Health

NsEuroNet: European network on Noonan syndrome and related disorders

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO

A.R. Genetica e Malattie Rare

NSEURONET: European network on Noonan syndrome and related disorders

IRCCS Ospedale Pediatrico Bambino Gesù - SEDE SAN PAOLO

A.R. Genetica e Malattie Rare

ExPO-r-Net: European Expert Paediatric Oncology Reference Network for Diagnostics and Treatment

St. Anna Kinderkrebsforschung

Children's Cancer Research Institute

CAMINEMS: Integrated Micro-Nano-Opto Fluidic systems for high-content diagnosis and studies of rare cancer cells

Institut Curie

Macromolécules et Microsystèmes en Biologie et en Medecine

EPICURE: Functional genomics and neurobiology of epilepsy: a basis for new therapeutic strategies

Hertie-Institut für klinische Hirnforschung (HIH)

Abteilung für Neurologie mit Schwerpunkt Epileptologie

TORPEDO: Targeting Of Resistance in PEDiatric Oncology

Institution: Information not provided - DE

TRANSCAN-2: Aligning national/regional translational cancer research programmes and activities

Institution: Information not provided - IT

GENESKIN: European network on rare genetic skin diseases

Istituto Dermopatico dell'Immacolata - IRCCS

Laboratorio di Biologia Molecolare e Cellulare

RARECARE: surveillance of rare cancers in Europe

Fondazione IRCCS Istituto Nazionale dei Tumori

S.S. di Epidemiologia Valutativa

RARECARENet: Network informativo sui tumori rari

Fondazione IRCCS Istituto Nazionale dei Tumori

S.S. di Epidemiologia Valutativa

EpiPGX: Epilepsy Pharmacogenomics: delivering biomarkers for clinical use

The National Hospital For Neurology and Neurosurgery

Department of Clinical and Experimental Epilepsy

EPOC: European paediatric oncology off-patent medicines consortium

Northern Institute for Cancer Research, Medical School, Newcastle University

Northern Institute for Cancer Research

EUNEFRON: the European network for the study of orphan nephropathies

Cliniques universitaires Saint-Luc - UCLouvain

Laboratory of Nephrology

EURENOMICS: European Consortium for High-Throughput Research in Rare Kidney Diseases (TERMINATED)

Zentrum für Kinder- und Jugendmedizin des Universitätsklinikums Heidelberg

Klinik für Kinderheilkunde I - Sektion Pädiatrische Nephrologie

HELICAL - Health Data Linkage for Clinical Benefit

Trinity College Dublin

ADAPT Centre

Brains for brain: research group of the European task force on brain and neurodegenerative lysosomal storage diseases

Azienda Ospedaliera di Padova

Clinica Pediatrica

International Clearinghouse for Birth Defects Monitoring Systems

Universitätsklinikum Magdeburg A.ö.R

MONZ - Fehlbildungsmonitoring Sachsen-Anhalt