“Iran RP Society“, a well-known Iranian NGO, has registered most of Iranian patients with Retinitis Pigmentosa (RP) or other inherited retinal dystrophies over the last two decades. Dr Ghaffari started collaborative projects with “Iran RP Society” since 2003. Since the beginning, Dr Ghaffari designed and managed research projects, and genetic services (genetic counseling and diagnostic genetic tests) in the RP center. He have also served educational services for the patients including regular monthly seminars, discussing mode of inheritance of RP, how to prevent the recurrence of disease in the family, available genetic tests, prenatal diagnosis, preimplantation genetic diagnosis and etc.
As no large scale study had been carried out in Iranian RP patients, the Dr Ghaffari, designed and directed several projects through which, the epidemiologic data of registered families were collected and genetic investigations using appropriate techniques available at the time of study were performed.
Some of the main projects are summarized below:
- 2007-2011: Determining the Distribution of Different Modes of Inheritance among Iranian Patients with Retinitis Pigmentosa by Pedigree Analysis of ~14000 Iranian RP patients from >4000 Families registered in Iran RP Society
- Comprehensive Genomic Approach to Inherited Retinal Dystrophies using Next Generation Sequencing
- Phase 1 (2010-2012): Targeted capture sequencing of selected families with high score of autosomal recessive RP
- Phase 2 (2013-Present): Target sequencing of patients with inherited retinal dystrophies using Ion Ampliseq Ophthalmology panel (316 genes) followed by whole exome sequencing
- 2017-Present: “Genetic Profiling of Common Hereditary Disorders to Identify the Distribution of Mutations in Iran Provinces: Hope Project”
- 2011-2012: Mutation Analysis of RHO Gene in Autosomal Dominant Retinitis Pigmentosa patients
- 2013-2014: Mutation Analysis of RP2 Gene in X-Linked Retinitis Pigmentosa patients
- Mutation analysis of RP2 gene using Sanger sequencing technique in 11 families with apparent X-Linked inheritance.