Q3139753 (Q3139753): Difference between revisions
Jump to navigation
Jump to search
(Changed an Item: Edited by the materialized bot - inferring region from the coordinates) |
(Created claim: summary (P836): Pigment retinosis (RP) includes a group of hereditary retina diseases (IRD) associated with progressive dysfunction of the sticks or cones, which leads to vision loss. There is a great genetic heterogeneity within IRDs with more than 250 genes identified, which has been hampering their genetic-molecular characterisation, so mass sequencing techniques are revolutionising the diagnostic process, although the genetic cause of 35 % of IRD cases is s...) |
||||||||||||||
| Property / summary | |||||||||||||||
Pigment retinosis (RP) includes a group of hereditary retina diseases (IRD) associated with progressive dysfunction of the sticks or cones, which leads to vision loss. There is a great genetic heterogeneity within IRDs with more than 250 genes identified, which has been hampering their genetic-molecular characterisation, so mass sequencing techniques are revolutionising the diagnostic process, although the genetic cause of 35 % of IRD cases is still unknown. The diagnosis of each patient is key to both genetic counseling and eventual inclusion in trials that with genetic therapies are beginning to be applied in these patients with promising results. Over the last few years, our group has managed to characterise a large percentage of patients with Gipuzkoa’s PR, using latest generation screening and genetic sequencing techniques. In this proposal we intend to complement this strategy with more far-reaching ones, such as sequencing the entire exome, or analysing the number of copies in patients without a diagnosis after a first analysis of 316 genes associated with IRD. We anticipate that the realisation of this project will lead to the genetic-molecular characterisation of the vast majority of PR patients in the Basque Country. (English) | |||||||||||||||
| Property / summary: Pigment retinosis (RP) includes a group of hereditary retina diseases (IRD) associated with progressive dysfunction of the sticks or cones, which leads to vision loss. There is a great genetic heterogeneity within IRDs with more than 250 genes identified, which has been hampering their genetic-molecular characterisation, so mass sequencing techniques are revolutionising the diagnostic process, although the genetic cause of 35 % of IRD cases is still unknown. The diagnosis of each patient is key to both genetic counseling and eventual inclusion in trials that with genetic therapies are beginning to be applied in these patients with promising results. Over the last few years, our group has managed to characterise a large percentage of patients with Gipuzkoa’s PR, using latest generation screening and genetic sequencing techniques. In this proposal we intend to complement this strategy with more far-reaching ones, such as sequencing the entire exome, or analysing the number of copies in patients without a diagnosis after a first analysis of 316 genes associated with IRD. We anticipate that the realisation of this project will lead to the genetic-molecular characterisation of the vast majority of PR patients in the Basque Country. (English) / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / summary: Pigment retinosis (RP) includes a group of hereditary retina diseases (IRD) associated with progressive dysfunction of the sticks or cones, which leads to vision loss. There is a great genetic heterogeneity within IRDs with more than 250 genes identified, which has been hampering their genetic-molecular characterisation, so mass sequencing techniques are revolutionising the diagnostic process, although the genetic cause of 35 % of IRD cases is still unknown. The diagnosis of each patient is key to both genetic counseling and eventual inclusion in trials that with genetic therapies are beginning to be applied in these patients with promising results. Over the last few years, our group has managed to characterise a large percentage of patients with Gipuzkoa’s PR, using latest generation screening and genetic sequencing techniques. In this proposal we intend to complement this strategy with more far-reaching ones, such as sequencing the entire exome, or analysing the number of copies in patients without a diagnosis after a first analysis of 316 genes associated with IRD. We anticipate that the realisation of this project will lead to the genetic-molecular characterisation of the vast majority of PR patients in the Basque Country. (English) / qualifier | |||||||||||||||
point in time: 12 October 2021
| |||||||||||||||
Revision as of 13:01, 12 October 2021
Project Q3139753 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | No label defined |
Project Q3139753 in Spain |
Statements
41,000.0 Euro
0 references
82,000.0 Euro
0 references
50.0 percent
0 references
1 January 2018
0 references
31 March 2021
0 references
ASOCIACION INSTITUTO BIODONOSTIA
0 references
43°19'20.71"N, 1°59'2.00"W
0 references
20069
0 references
La retinosis pigmentaria (RP) engloba un grupo de enfermedades hereditarias de la retina (IRD) asociada a la disfunción progresiva de los bastones y/o conos, que conlleva pérdida de la visión. Existe una gran heterogeneidad genética dentro de las IRD con más de 250 genes identificados, lo que ha venido dificultando su caracterización genético-molecular, por lo que las técnicas de secuenciado masivo están revolucionando el proceso diagnóstico, a pesar de lo cual aun se desconoce la causa genética del 35% de los casos de IRD. El diagnóstico de cada paciente es clave tanto para el consejo genético como para una eventual inclusión en los ensayos que con terapias genéticas se están comenzando a aplicar en estos pacientes con resultados prometedores. A lo largo de los últimos años nuestro grupo ha logrado caracterizar a un gran porcentaje de pacientes de RP de Gipuzkoa, utilizando técnicas de cribado y de secuenciado genético de última generación. En la presente propuesta nos planteamos complementar esta estrategia con otras de mayor alcance, como el secuenciado de todo el exoma, o el análisis del número de copias en aquellos pacientes sin un diagnóstico tras un primer análisis de 316 genes asociados a IRD. Anticipamos que la realización del presente proyecto conducirá a la caracterización genético-molecular de la gran mayoría de pacientes de RP del País Vasco. (Spanish)
0 references
Pigment retinosis (RP) includes a group of hereditary retina diseases (IRD) associated with progressive dysfunction of the sticks or cones, which leads to vision loss. There is a great genetic heterogeneity within IRDs with more than 250 genes identified, which has been hampering their genetic-molecular characterisation, so mass sequencing techniques are revolutionising the diagnostic process, although the genetic cause of 35 % of IRD cases is still unknown. The diagnosis of each patient is key to both genetic counseling and eventual inclusion in trials that with genetic therapies are beginning to be applied in these patients with promising results. Over the last few years, our group has managed to characterise a large percentage of patients with Gipuzkoa’s PR, using latest generation screening and genetic sequencing techniques. In this proposal we intend to complement this strategy with more far-reaching ones, such as sequencing the entire exome, or analysing the number of copies in patients without a diagnosis after a first analysis of 316 genes associated with IRD. We anticipate that the realisation of this project will lead to the genetic-molecular characterisation of the vast majority of PR patients in the Basque Country. (English)
12 October 2021
0 references
Donostia/San Sebastián
0 references
Identifiers
PI17_01413
0 references