Objective
The primary objective was to enhance molecular studies in retinitis pigmentosa (RP) such as: DNA linkage analyses, fine mapping, isolation and analysis of Retinitis Pigmentosa genes, the isolation of candidate genes for retinal diseases, screening for microdeletions of syndromic and non-syndromic cases and elucidation of the gene function.
Collaborative investigations have been carried out in European countries into the molecular genetics of retinitis pigmentosa (RP) diseases. Results are as follows:
the gene for choroideremia (TCD) was isolated and sequenced for point mutations;
the gene for autosomal dominant retinitis pigmentosa (ADRP) was localized on chromosome 3q and provided the basis for the subsequent detection of the first rhodopsin mutation in the United States;
molecular technology for screening for point mutations in ADRP has been introduced to participating laboratories and the mutation spectrum of a large number of European patients showed differences from that of the American population;
a cluster of families segregating 4 autosomal recessive retinitis pigmentosa (ARRP) was ascertained and deoxyribonucleic acid (DNA) from blood samples is being used collaboratively for mapping in ARRP;
genes have been identified for Usher Syndrome type I and Norrie Syndrome;
use of linked DNA markers and probes detecting deletions allowed early diagnosis including predictive testing of a number of RP types;
information has been disseminated to researchers, doctors and patient organizations.
Definition of Retinitis Pigmentosa (RP): RP is a general term used to refer to a large group of progressive eye-disorders, primarily involving the retina. RP can be present at birth (congenital RP), it is most often diagnosed in childhood or early adulthood, most affected are legally blind by the age of 40. Macular degeneration is the leading cause of legal blindness in adults over 60. Leber's congenital amaurosis and Stargardt's disease are of infantile and juvenile onset, respectively. Usher syndrome is the leading cause of combined (congenital) deafness and (juvenile onset) progressive blindness. In addition to classical RP and allied retinopathies (eg gyrate atrophy, choroideremia), many RP-syndromes (>50) exist in which pleiotropic genes involve specific progressive pathologies of the central nervous system (eg dementia cerebellar ataxia), deafness, renal disease, and others.
Improved ascertainment and improved assessment of informative patients are prerequisites for proper molecular studies in RP: Although the inherited retinal dystrophies comprise a large variety of specific entities, genetically informative cases for molecular studies may be rare and constitute the limiting factor for scientific progress. The proposed ascertainment programme was therefore based on a double strategy: (a) ophthalmologists, eye-clinics, institutions for the blind and (b) registries and media of RP-patient organisations. Improved assessment of patients entering genetic studies is urgently needed using advanced ophthalmological methods, because a number of genetically different RP-types cannot be distinguished on clinical grounds as of yet. For this purpose a Common European Protocol for ophthalmological investigations was proposed within the programme of the Concerted Action as well as the instalment of the European Information Service on complex RP-syndromes.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.
- natural sciences biological sciences genetics DNA
- medical and health sciences clinical medicine nephrology
- medical and health sciences basic medicine neurology dementia
- medical and health sciences basic medicine pathology
- medical and health sciences clinical medicine ophthalmology retinopathy
You need to log in or register to use this function
Programme(s)
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Multi-annual funding programmes that define the EU’s priorities for research and innovation.
Topic(s)
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Data not available
Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.
Call for proposal
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Data not available
Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.
Funding Scheme
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Funding scheme (or “Type of Action”) inside a programme with common features. It specifies: the scope of what is funded; the reimbursement rate; specific evaluation criteria to qualify for funding; and the use of simplified forms of costs like lump sums.
Coordinator
48149 Münster
Germany
The total costs incurred by this organisation to participate in the project, including direct and indirect costs. This amount is a subset of the overall project budget.