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Funded by an IRDiRC member =

Research projects

AUSTRIA

WIEN
WIEN

Correcting nucleotide excision repair-associated diseases
AKH BT 25.3
Ce-M-M- Research Center for Molecular Medicine of the Austrian Academy of Sciences

CANADA

Ontario
TORONTO

Funded by an IRDiRC memberDeciphering the Role of UBR1 E3 Ubiquitin Ligase using a C. elegans Model
Mount Sinai Hospital
Lunenfeld-Tanenbaum Research Institute

FRANCE

ILE-DE-FRANCE
PARIS

Constitutive hematologic diseases: clinical and therapeutic research, molecular biology
CHU Paris-GH St-Louis Lariboisière F.Widal - Hôpital Saint-Louis
Service d'hématologie pédiatrique

GERMANY

Baden-Württemberg
FREIBURG

GERMANY

Baden-Württemberg
FREIBURG

EWOG-MDS-RC-06: TCR Vbeta repertoire and PNH clones in children with Refractory Cytopenia (RC). An open nonrandomised multicenter prospective study
Zentrum für Kinder- und Jugendmedizin Freiburg
Klinik für Pädiatrische Hämatologie und Onkologie

GERMANY

Bayern
ERLANGEN

Cartilage-Hair Anauxetic dysplasia spectrum: functional studies and genotype-phenotype correlations
Humangenetisches Institut am Universitätsklinikum Erlangen
Humangenetisches Institut

ITALY

CAMPANIA
NAPOLI

Funded by an IRDiRC memberDesigning therapeutic strategies to rescue epidermal defects in AEC syndrome
Biotecnologie Avanzate Srl
Ceinge Biotecnologie Avanzate SCarl

ITALY

CAMPANIA
NAPOLI

EUCILIA: thorough analysis of animal models with mutant BBS, OFD1, or NPHP protein (WP1)
TIGEM - Telethon Institute of Genetics and Medicine
Laboratorio di Ricerca

ITALY

LAZIO
ROMA

Study of inherited skin disorders: molecular pathogenesis, diagnosis and genotype-phenotype correlation
IRCCS Ospedale Pediatrico Bambino Gesù - SEDE GIANICOLO
U.O.C. di Dermatologia

JAPAN

JAPAN
ADDRESS : NOT PROVIDED - JP

Funded by an IRDiRC memberPathogenesis and novel therapeutic approarches in RASoapthies
Institution: Information not provided - JP

NETHERLANDS

Gelderland
NIJMEGEN

TREATCilia: Novel Therapeutic Avenues for dynein-related Ciliopathies
Radboudumc - Radboud universitair medisch centrum
Afdeling Genetica

SPAIN

Andalucía
SEVILLA

Mathematical models of disease mechanisms to reformulate drugs for rare diseases
Fundación Progreso y Salud
Área de bioinformática clínica

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberEpigenetic responses to changes in the nuclear redox environment. Possible therapeutic targets in rare diseases
INCLIVA
Grupo de investigación en Fisiopatología celular y orgánica del estrés oxidativo

SPAIN

Murcia
MURCIA

Dyskeratosis congenita. New models, new molecular keys and new treatments
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales

SPAIN

Murcia
MURCIA

Funded by an IRDiRC memberMechanisms involved in hematopoietic alterations and cancer in the dyskeratosis congenita. Search for therapies
IMIB - Instituto Murciano de Investigación Biosanitaria Virgen de la Arrixaca
Grupo de Cirugía digestiva, endocrina y trasplante de órganos abdominales

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberGenetic disorders of immunodeficiency and inflammatory disease
Institution: Information not provided - US

FRANCE

ILE-DE-FRANCE
PARIS

Funded by an IRDiRC memberHomeotic transformation of the jaw and central respiratory disorders in Auriculo-Condylar syndrome
IMAGINE - Institut des Maladies Génétiques
Equipe "Embryologie et Génétiques des malformations congénitales"

GERMANY

Bayern
ERLANGEN

ECP-002e: Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 - DE
Kinder- und Jugendklinik des Universitätsklinikums Erlangen
Abteilung für Molekulare Pädiatrie

GERMANY

Bayern
MÜNCHEN

Investigation of the genetics of the hair shaft abnormality pili annulati in 5 families
Klinik und Poliklinik für Dermatologie und Allergologie - Campus Innenstadt
Interdisziplinäres Zentrum für genetische und seltene Hautkrankheiten

GERMANY

Hessen
GIEßEN

RBM28: comprehensive analysis of its role in human disease and neuroepithelial tissue development
Justus-Liebig-Universität Gießen
Institut für Biochemie - AG Prof. Dr. A. Bindereif

GERMANY

Sachsen
LEIPZIG

Large scale genomic deletions in mice to identify specific keratin functions
TRM Universität Leipzig
Translationszentrum für Regenerative Medizin (TRM) Leipzig

ITALY

VENETO
ZELARINO

UNITED KINGDOM

Tayside
DUNDEE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberPreclinical evaluation of vorinostat in alopecia areata
Institution: Information not provided - US

Multicentric Research projects