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Research projects
FRANCE
ILE-DE-FRANCE
PARIS
EGR2: Pregnancy and Medically Assisted Conception in Rare Diseases
AP-HP.Centre - Université de Paris - Hôpital Cochin
Unité fonctionnelle de Médecine interne et centre de référence maladies rares
FRANCE
PROVENCE-ALPES-COTE D'AZUR
NICE
Study of SYK signaling in chronic inflammatory diseases
Centre Méditerranéen de Médecine Moléculaire
GERMANY
Berlin
BERLIN
CARPE: Endothelial Dysfunction and Cardiovascular Risk After Preeclampsia
Max-Delbrück-Centrum für Molekulare Medizin
Max-Delbrück-Centrum für Molekulare Medizin in der Helmholtz-Gemeinschaft
GERMANY
Niedersachsen
OLDENBURG
A pilot study to investigate the immunological regulation of preeclampsia
Klinikum Oldenburg AöR
Universitätsklinik für Gynäkologie und Geburtshilfe
GERMANY
Schleswig-Holstein
LÜBECK
DSDCare: Standardized healthcare-center-centered care of DSD over the life span
Universitätsklinikum Schleswig-Holstein - Campus Lübeck
Hormonzentrum für Kinder und Jugendliche - Lübeck
SPAIN
Cataluńa
BARCELONA
Analysis of the complement system as therapeutical target in severe preeclampsia and Hellp syndrome
Fundación Instituto de Investigación contra la Leucemia Josep Carreras
BET: Barcelona Endothelium Team
SPAIN
Cataluńa
BARCELONA
Cardiac Dysfunction and Remodeling in Patients With Preeclampsia Regulated by Antiangiogenic Environment: Clinical and Experimental Approach
IIB Sant Pau - Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau
Grupo de investigación en medicina perinatal y de la mujer
SPAIN
Madrid
MADRID
Improving diagnostic capacity and knowledge of pathogenesis of Primary Antiphospholipid syndrome through proteomics and transcriptomics
Instituto de Investigación Hospital 12 de Octubre
Fundación para la Investigación Biomédica del Hospital Universitario 12 de Octubre
SWITZERLAND
Suisse Alémanique
BERN
Association Between Preeclampsia, Antiphospholipid Syndrome and Postpartum Pulmonary Artery Pressure, Systemic Arterial Pressure and Cardiovascular Function
Universitätsspital Inselspital
University Hospital Inselspital
SWITZERLAND
Suisse Alémanique
ZÜRICH
Does Preeclampsia Affect Blood Loss During a Caesarean Procedure
UniversitätsSpital Zürich
Institut für Anästhesiologie
SWITZERLAND
Suisse Romande
LAUSANNE
Improving Cleft Lip/Palate management of care through genomic medicine
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
SWITZERLAND
Suisse Romande
LAUSANNE
The Neuroendocrine Control of Human Reproduction II
Hôtel des Patients - CHUV
Service d'Endocrinologie, diabétologie et métabolisme
UNITED KINGDOM
Greater London
LONDON
Liver Disease in Pregnancy
King's College London
King's College London Headquarters
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Identifying predictors of reversible congenital hypogonadotropic hypogonadism
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Molecular Basis of Pregnancy Complications in the Antiphospholipid Syndrome
Institution: Information not provided - US
FRANCE
GRAND-EST
ILLKIRCH-GRAFFENSTADEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - FR
Institut de génétique et de biologie moléculaire et cellulaire - IGBMC
Département Biologie du développement et cellules souches
FRANCE
ILE-DE-FRANCE
LE KREMLIN-BICĘTRE
Survey of the interest of ovarian cortex cryoconservation of girls affected by Turner syndrome: search for clinical and hormonal critera to select patients and caryotypic correlations
Hôpital Bicętre, GHU APHP. Université Paris Saclay
Service d'Endocrinologie et Diabčte de l'Enfant
GERMANY
Niedersachsen
HANNOVER
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Medizinische Hochschule Hannover
Institut für Biophysikalische Chemie
GERMANY
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies- DE
Universitätsklinikum Carl Gustav Carus an der TU Dresden
Institut für Klinische Genetik
HUNGARY
Közép-Magyarország
BUDAPEST
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - HU
Semmelweis University
Department of Biophysics and Radiation Biology
ITALY
TOSCANA
SESTO FIORENTINO (FIRENZE)
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies - IT
Universitŕ degli Studi di Firenze
Dipartimento di Biologia
SWITZERLAND
Suisse Alémanique
BERN
SF1next - Understanding the clinical and genetic complexity of human steroidogenic factor 1 (SF-1/NR5A1) variants in sex and steroid biology
Inselspital Universitätsspital
Pädiatrische Endokrinologie und Diabetologie
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Identification of small molecule that act on gsp, the etiologic mutation responsible for fibrous dysplasia/mccune-albright syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Investigation of x chromosome haploinsufficiency on germ cell development using t
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Gender-specific effects in physiology; pathophyiology and longevity
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Regulation of vertebrate gonad formation by fibroblast growth factor signaling
Institution: Information not provided - US
CANADA
Alberta
EDMONTON
Autonomic nervous system function and metabolic profiling in children with PWS
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
CANADA
Alberta
EDMONTON
Evidence-based approach to dietary management of Prader Willi Syndrome
University of Alberta
Department of Pediatrics, Division of Endocrinology and Metabolism
FRANCE
GRAND-EST
STRASBOURG
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
FRANCE
HAUTS-DE-FRANCE
ADDRESS: NOT PROVIDED - FR
Food practices socialization of children with Prader-Willi syndrom
Institution: Information not provided - FR
FRANCE
NOUVELLE AQUITAINE
PESSAC
Adrenal deficiency : clinical study
CHU de Bordeaux-GH Sud - Hôpital Haut-Lévęque
Unité d'Endocrinologie et oncologie endocrinienne
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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
FRANCE
PROVENCE-ALPES-COTE D'AZUR
MARSEILLE
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
GERMANY
Berlin
BERLIN
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
GERMANY
Niedersachsen
GÖTTINGEN
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
ITALY
FRIULI VENEZIA GIULIA
TRIESTE
miRNA in Prader-Willi syndrome
Area Scienze Park - Campus di Basovizza
Centro Studi Fegato
ITALY
LAZIO
FIUMICINO
Prader-Willi syndrome: genetic, metabolic and endocrine functional neuroanatomy
IRCCS Ospedale Pediatrico Bambino Gesů - SEDE PALIDORO
U.O. di Endocrinologia
ITALY
LAZIO
ROMA
RegistRare: the new National Platform dedicated to Rare Diseases Registries
ISS - Istituto Superiore di Sanitŕ
Centro Nazionale Malattie Rare
ITALY
LOMBARDIA
CUSANO MILANINO
Advanced biotechnologies for diagnosis of rare genetic diseases with multiple pathogenetic mechanisms
Istituto Auxologico Italiano
Laboratorio di Biologia Molecolare
SPAIN
Cataluńa
ESPLUGUES DE LLOBREGAT
The gut microbiome as a therapeutic target in Prader-Willi syndrome: effects on metabolic health and social behavior
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
SPAIN
Cataluńa
SABADELL
Effect of deep propioception stimulation on sleep disorders, behaviour and brain connectivity in adults with Prader-Willi syndrome
Parc Taulí Hospital Universitari
Fundació Parc Taulí - Institut Universitari UAB
SWEDEN
Region Stockholm
SOLNA
Understanding Genetic Mechanisms in Disorders and Development of Diagostic Methods
Karolinska Institutet
Department of Molecular Medicine and Surgery (MMK)
SWEDEN
Region Örebro län
ÖREBRO
Study on cognitive hearing sciences (Linnéus HEAD) in Ushers, Alström syndrome, CHARGE and other syndromic deafness disorders
Örebro Universitetssjukhus
Örebro University Hospital
UNITED KINGDOM
Greater Manchester
ADDRESS: NOT PROVIDED - UK
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - UK
Institution: Information not provided - UK
UNITED KINGDOM
West Midlands
BIRMINGHAM
EURO-WABB: EURO-Rare Diabetes Project (coordination)
Birmingham Children's Hospital NHS Foundation Trust
Diabetes Unit
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Genetic epidemiology of complex diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Cilium-associated structures in rod cells
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Mechanisms of retinal degeneration in inherited diseases
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Epigenetic therapy and prader-willi syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Neuroendocrine regulation of metabolism and neurocognition
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Physiology; psychology; and genetics of obesity
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
The regulation of pubertal onset and reproductive development
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Ocular complications of CHARGE Syndrome: The role of Sox11
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Stimulating Retina Regeneration from Muller Cells in Progressive Retinal Degenerations
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Structural basis of BBSome-mediated ciliary exit
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Characterizing the neural crest response to BMP signaling through gastrulation and neurulation - US
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Molecular underpinnings of Prader-Willi syndrome
Institution: Information not provided - US
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US
Imprinted snoRNA loci and circadian entrainment
Institution: Information not provided - US
FRANCE
ILE-DE-FRANCE
PARIS
Evolution of the psychosocial impact of the diagnostic announcement of Rokitansky syndrome: EIPSAMRKH5
Hôpital Necker-Enfants Malades
Service d'endocrinologie, gynécologie et diabétologie pédiatrique
GERMANY
Baden-Württemberg
TÜBINGEN
Impact of MRKH syndrome in somatic, social and mental health
Universitäts-Frauenklinik Tübingen
Frauenklinik
GERMANY
Baden-Württemberg
TÜBINGEN
Investigation of histological and immunohistochemical organisation of the uterine rudiments in MRKH patients
Universitäts-Frauenklinik Tübingen
Frauenklinik
GERMANY
Baden-Württemberg
TÜBINGEN
Impact of MRKH syndrome in somatic, social and mental health
ViTa-Gebäude Talklinikum
Abteilung Psychosomatische Medizin und Psychotherapie am Universitätsklinikum Tübingen
SPAIN
Cataluńa
ESPLUGUES DE LLOBREGAT
M.BRAIN: Brain organoids for MAGEL2 related syndromes
Fundació Sant Joan de Déu - Institut de Recerca Sant Joan de Déu
Grupo de investigación del Metabolismo energético mitocondrial
UNITED KINGDOM
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
Multicentric Research projects
- University College Cork
- UNIVERSITY COLLEGE CORK, NATIONAL UNIVERSITY OF IRELAND
- Nottingham Health Science Partners
- Clinical Chemistry Division
- Cologne Center for Genomics (CCG) der Universität zu Köln
- Abteilung Dermatogenetik
- Universitätsklinikum Carl Gustav Carus an der TU Dresden
- Institut für Klinische Genetik
- UCL Institute for Women's Health
- UCLH Women's Health Division
- Universitätsklinikum Magdeburg A.ö.R
- MONZ - Fehlbildungsmonitoring Sachsen-Anhalt
- TIGEM - Telethon Institute of Genetics and Medicine
- Laboratorio di Ricerca
- University of Trento
- Chromatin & Epigenetics Laboratory
- Developmental Psychiatry - University of Cambridge
- Learning Disabilities Research Group
- Department of Health
- Institution: Information not provided - US
IRELAND
County Cork
CORK
IMPROvED: IMproved Pregnancy Outcomes by Early Detection; personalized medicine for pregnant women: novel metabolomic and proteomic biomarkers to detect pre-eclampsia and improve outcome
UNITED KINGDOM
Nottinghamshire
NOTTINGHAM
INTERPREGGEN: Genetic studies of pre-eclampsia in Central Asian and European populations
GERMANY
Nordrhein-Westfalen
KÖLN
SkinDev: In vitro and in vivo models of congenital rare skin diseases for molecular characterization and drug screening
GERMANY
Sachsen
DRESDEN
PREDACTING: Predicting the clinical outcome of non-muscle actinopathies
UNITED KINGDOM
Greater London
LONDON
EuroPSI - European Network for Psychosocial Studies in Intersex / Diverse Sex Development
GERMANY
Sachsen-Anhalt
MAGDEBURG
International Clearinghouse for Birth Defects Monitoring Systems
ITALY
CAMPANIA
NAPOLI
EUCILIA: Pathophysiology of rare diseases due to ciliary dysfunction: nephronophthisis, oral-facial-digital type 1 and bardet-biedl syndromes
ITALY
TRENTINO ALTO ADIGE
POVO
Chrom_rare: Unveiling the molecular basis of chromatinopathies to delineate innovative therapeutic solutions
UNITED KINGDOM
Cambridgeshire
CAMBRIDGE
PWS: Prader-Willi Syndrome: a model linking gene expression, obesity and mental health
UNITED KINGDOM
Greater London
LONDON
RASopathy network: disorders of the Ras-MAPK pathway
UNITED STATES
Washington
ADDRESS: NOT PROVIDED - US