Ciliopathies
Skeletal Ciliopathies
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Clinical Resources
Short-rib polydactyly
Patient Cohorts
Patient cohort
Jeune asphyxiating thoracic dystrophy
Patient Cohorts
Patient cohort
Ellis Van Creveld syndrome
Patient Cohorts
Patient cohort
Renal Ciliopathies
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Clinical Resources
Nephronophthisis
Patient Cohorts
> 1500 patients with NPH
Retinal dystrophies including ciliopathies
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Clinical Resources
X-linked retinitis pigmentosa
Leber congenital amaurosis (LCA)
In vivo models
Cep290 del/del mouse model
In vivo models
Cep290 Ki mouse models
Samples
DNA and fibroblasts from LCA10 patients
In vitro models
Fibroblasts from patients
Protocols
Injection of naked 2′-O-Methyl-phosphorothioate (2’OMePS) antisense-oligonucleotides (AON) for LCA10 patients
Therapeutic Approaches
Antisense oligonucleotide therapy technology
Patents
Methods for the treatment of retinal dystrophies by exon36 skipping strategy
Patents
Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof
Patents
Compositions and methods for the treatment of leber congenital amaurosis
Patient Cohorts
>700 patient cohort
Rod-cone dystrophies including X-linked retinisis pigmentosa (XLRP)
Samples
DNA samples from patients with XLRP
Patient Cohorts
300 patientscohort
Neuronal Ciliopathies
Research Models and Biological Samples
Therapeutic and Diagnostic Development
Clinical Resources
Malformations of cortical development
Hydrolethalus syndrome (HLS)
Joubert syndrome (JS)
Meckel syndrome (MKS)
Corpus callosum malformations