Table 1 Details of international projects established and supported by RDMM-Europe

From: Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)

Disease	ERN	Location of subcontractor	Scope	Model organism(s)	Reference
Developmental disorder	ITHACA	Rotterdam, the Netherlands	Gene validation; mechanism	Mouse embryo	Supplementary Fig. S1 and¹⁴
Malformative syndrome without intellectual disability representing distinct entity from Pitt-Hopkins syndrome	ITHACA	Pisa, Italy	Gene validation; mechanism; treatment	Xenopus & zebrafish	Supplementary Fig. S2
Cortical dysplasia, complex, with other brain malformations	ITHACA	Dijon, France	Gene validation; mechanism	Mouse	Supplementary Fig. S3
Demyelinating neuropathy with central involvement	RND	Oxon, UK	Gene validation; mechanism	Mouse	Supplementary Fig. S4
Microcephaly, developmental delay and facial dysmorphisms	ITHACA	Toronto, Canada	Gene validation; mechanism	Drosophila	Supplementary Fig. S5
Autosomal recessive hereditary spastic paraplegia (HSP)	RND	Miami, US	Gene validation; mechanism; treatment	Drosophila	Supplementary Fig. S6
Acute middle age onset respiratory insufficiency with selective muscle involvement	Euro-NMD	Washington, D.C., US	Gene validation	Mouse	¹¹
Polymalformative syndrome	ITHACA	Toronto, Canada	Gene validation; mechanism	Drosophila	-
Neurodevelopmental disorder	ITHACA	Oklahoma City, US	Gene validation	Zebrafish	-
Distal myopathy with some proximal involvement	Euro-NMD	Helsinki, Finland	Gene validation	Zebrafish	-
Neurodevelopmental disorders	ITHACA	Ghent, Belgium	Gene validation; mechanism	Drosophila	¹³
Hereditary spastic paraplegia, subtype SPG32	RND	Paris, France	Gene validation	Zebrafish	-
Intellectual disability and autism spectrum disorder	ITHACA	Lyon, France	Gene validation	Caenorhabditis elegans	-
Neurodevelopmental disorder	ITHACA	Milano, Italy	Gene validation	iPSC	-
Serrated Polyposis Syndrome (SPS)	GENTURIS	Cleveland, US	Gene validation	Cell–cell adhesion assay; mouse	-
Myopathy with severe (lethal) cardiac involvement	Euro-NMD	Sydney, Australia	Gene validation	Patient-derived cells	-
Intellectual disability	ITHACA	Oxon, UK	Gene validation	Mouse	-
Cornelia de Lange-related disorder	ITHACA	Doha, Katar	Gene validation	Zebrafish	-
Epileptic encephalopathy	Euro-NMD	Osaka, Japan	Gene validation; mechanism	Mouse	-
Global developmental delay, cardiac involvement and facial dysmorphism	ITHACA	Prague, Czech Republic	Gene validation	Mouse & zebrafish	-
Severe developmental delay, seizures and facial dysmorphisms	ITHACA	Prague, Czech Republic	Gene validation	Mouse & zebrafish	-
Developmental disorder	ITHACA	Munich, Germany	Gene validation	Mouse	-
Neurodevelopmental disorder (NDD)	GENTURIS	London, UK	Gene validation; mechanism; treatment	Zebrafish	-
Microcephaly, global developmental delay and craniofacial abnormalities	ITHACA	Paris, France	Gene validation; mechanism	Zebrafish	-
Complex dystonia-parkinsonism-ataxia phenotype	Euro-NMD	Oklahoma City, US	Gene validation	Zebrafish	-
A new genetic form of Hereditary Spastic Paraplegia (HSP)	Euro-NMD	Rotterdam, the Netherlands	Gene validation; treatment	Zebrafish	¹²
Polymalformative syndrome	ITHACA	Ghent, Belgium	Gene validation; mechanism	Drosophila	-
Medullary thyroid cancer and breast cancer	GENTURIS	Budapest, Hungary	Gene validation	Zebrafish	-
Autosomal-dominant cerebellar ataxia	RND	Massachusetts, US	Gene validation	Recombinant protein assay	-
Epileptic encephalopathy with severe brain degeneration	Euro-NMD	Geneva, Switzerland	Gene validation; treatment	Drosophila	-
Non-syndromic sensorineural hearing impairment	Euro-NMD	Göttingen, Germany	Gene validation	Mouse	-
Developmental and epileptic encephalopathy	Euro-NMD	Manitoba, Canada	Gene validation; mechanism; treatment	Drosophila	-
A distinct syndromic neurodevelopmental disorder	Euro-NMD	Ghent, Belgium	Gene validation	Xenopus & zebrafish	-

For each project, the table provides disease description, the European Reference Network for rare diseases (ERN) of the clinical partner that proposed a gene for validation, the geographic location of the seeding grant recipients (subcontractor), the main scope of the project, the model organism(s) and link to related publications. Further details about the first 6 projects are given in the Supplementary information. All other projects are listed in the order of the formal start dates defined by the conclusion of the subcontracts. RD, rare disease; RND, rare neurological diseases; ERN ITHACA, ERN for rare malformation syndromes, intellectual and other neurodevelopmental disorders; EURO-NMD, ERN for rare neuromuscular diseases; ERN GENTURIS, ERN for genetic tumor risk syndromes; iPSC: induced pluripotent stem cell.

Back to article page

Table 1 Details of international projects established and supported by RDMM-Europe

Search

Quick links