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Benign Familial Neonatal Seizures (BFNS) as disease model for human idiopathic epilepsies: expansion of the genotype-phenotype correlations and insights into novel disease mechanisms – EUROBFNS
“Autoimmune liver diseases Epitope peptide mapping - The entry to novel and innovative diagnostic and therapeutic applications – EPINOSTICS
New Genes and Therapeutic Approaches to Osteopetrosis – OSTEOPETR
Understanding the WHIM syndrome and search for new therapies : molecular analysis of CXCR4 functions in leukocyte trafficking and activation – WHIMPATH
The syndrome of neutropenia, hypogammaglobulinemia, myelokathexis (WHIM; OMIM: #193670) is a rare primary immunodeficiency that transmits usually as autosomal dominant disease and manifests as recurrent bacterial infections and warts of hands, feet and genitalia. The genetic basis of the disease hav
Prospective study of individuals at risk for spinocerebellar ataxia type 1, type 2, type 3 and type 6 (SCA1, SC2, SCA3, SCA6) – RISCA
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of autosomal dominantly inherited progressive ataxia disorders. It is estimated that there are 30,000 individuals in the European Community that directly descend from individuals affected by a SCA disorder and th
Consortium for Clinical, Genetic and Experimental Research into Hereditary Diseases of the Podocyte – PODONET
Steroid-resistant nephrotic syndrome (SRNS) is a rare but important clinical condition. While in up to 50% of patients intensified immunosuppression can eventually induce disease rem-ission and prevent long-term sequelae, a major subset of cases appears to be caused by genetic abnormalities of genes
Myotubularinopathies : common molecular mechanism and tissue specificity – MTMPATHIES
Myotubularins (MTMs) define a large family of proteins with several members mutated in different neuromuscular disorders : demyelinating Charcot-Marie-Tooth (CMT) neuropathies (MTMR2 and MTMR13) and congenital myotubular/centronuclear myopathy (MTM1). These rare diseases are characterized by early o
International Kindler Syndrome Network. – KINDLERNET
This proposal deals with the molecular basis, diagnosis and genotype-phenotype correlations of Kindler syndrome (KS), a rare skin disorder with an intriguing, complex phenotype and high medical / research relevance. KS is caused by mutations in the KIND1 gene and manifests with congenital skin blist
International Hirschsprung Disease Consortium – HSCR
Hirschsprung disease (HSCR, 1/5,000 live births) is characterized by the congenital absence of enteric neurons and ganglia ganglion cells in the hindgut, leading to intestinal obstruction. The length of aganglionosis is variable and correlates with the severity of the disease. Despite the high numbe
Genetics, Pathophysiology, and Therapy of Hereditary Angioedema Type III – HAEII
Our proposal concerns a rare, potentially life-threatening swelling disease, named hereditary angioedema type III (HAE type III). In a collaborative effort between research groups from Germany, France, and Italy, we plan to analyze the genetic basis and pathophysiology of HAE type III. In contrast t
European & Mediterranean network on spastic paraplegias – EUROSPA
Hereditary spastic paraplegias (HSP) are a group of clinically and genetically heterogeneous diseases which mainly affect the corticospinal tracts. They result in a functional gait handicap often associated to various other neurological symptoms. Very few symptomatic treatments exist against those d
European Network on Rett Syndrome – EURORETT
Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for aut
An integrated clinical and scientific approach for craniofacial malformations – CRANIRARE
The CRANIRARE project aims to analyse the molecular and pathophysiological mechanisms of rare craniofacial malformations and to transmit the results into improved patient care. CRANIRARE will work on the molecular basis and gene identification of 12 selected rare craniofacial malformations. More tha