Molecular Genetics of Retinal Degenerations
Parole chiave
Astratto
Descrizione
Objective: This project, Molecular Genetics of Retinal Degenerations will study the inheritance of genetic retinal degenerations, both Mendelian and complex, in families of many nationalities and ethnic backgrounds in order to identify the genes that, when mutated, cause retinal degenerations and the pathophysiology through which they act.
Study Population: The number of subjects to be enrolled has no logical upper limit, but will be at least 250 and below 5,000 during the next 5 years. The study consists of ascertaining individuals, and especially families with multiple individuals, affected by retinal degenerations including retinitis pigmentosa (RP) and also other closely related retinal degenerations such as Usher syndrome (USH) and Bietti crystalline dystrophy (BCD).
Design: These patients and their families will undergo detailed ophthalmological examinations and, where indicated, additional non-investigational examinations to characterize their retinal degeneration and determine their affectation status. A blood sample will be collected from each individual for isolation of DNA and in some individuals for lymphoblastoid transformation to establish a renewable source of DNA. Linkage analysis, association analysis, physical mapping, and mutational screening will be carried out to identify the specific gene and the mutations in it that are associated with retinal degenerations in this family. If necessary, the gene product will be characterized biochemically.
Outcome Measures: Linkage will be determines using the lod score method and mutations in specific genes will be assessed using a combination of residue conservation, blosum score, and molecular modeling. Association will be determined using chi-square and Fisher exact tests. Biochemical, metabolic, and physiological effects will be individualized to the specific assay.
Date
Ultimo verificato: | 06/22/2016 |
Primo inviato: | 09/29/2005 |
Iscrizione stimata inviata: | 09/29/2005 |
Primo pubblicato: | 10/02/2005 |
Ultimo aggiornamento inviato: | 04/03/2018 |
Ultimo aggiornamento pubblicato: | 04/04/2018 |
Data di inizio effettiva dello studio: | 09/25/2005 |
Data stimata di completamento dello studio: | 06/22/2016 |
Condizione o malattia
Fase
Criteri di idoneità
Età idonea per lo studio | 4 Years Per 4 Years |
Sessi idonei allo studio | All |
Accetta volontari sani | sì |
Criteri | - INCLUSION CRITERIA: Patients that meet diagnostic criteria for specific retinal degenerations will be recruited from the NEI and collaborating clinics. Subjects with the following will be recruited: 1. Individuals or family members of individuals with Retinal degenerations, either congenital, childhood, or age related. 2. Adults must be capable of providing their own consent. 3. All subjects must be able to cooperate with study examination and phlebotomy. 4. Older than 4 years of age. EXCLUSION CRITERIA: 1. Diseases, infections, or trauma that mimic primary retinal degenerations. 2. Children requiring sedation for study procedures. |
Risultato
Misure di esito primarie
1. V [Ongoing]