Hope Project

SR Ghaffari MSc MD PhD

The aim of this project is to identify the reservoir of common genetic diseases mutations in the country. In the first phase, 1,500 patients with a primary diagnosis of preventable (during or before pregnancy ) hereditary metabolic diseases or genetic eye disorders will be tested.  After a comprehensive pedigree analysis,  patients with a recurrence risk of higher than 25%  in their first degree relatives are selected from a wide variety of populations.  The project is designed in such a way that the diagnostic approaches are in a step-by-step manner and if the final diagnosis is anticipated at each stage, the next step is stopped. The techniques used include basic diagnostic techniques as well as the high end technologies like next generation sequencing (NGS) or a combination of these. The rate of diagnosis is anticipated to be between 70% to  80%. Thus, it is estimated that around 1,000 to 1,200 patients will ultimately lead to a definitive diagnosis. Based on population estimates, about 10-12 thousand people from relatives of the tested patients will benefit from this phase of the project, which will be determined at a later stage at a much lower cost (using Sanger sequencing). The first phase of the project will last between six  months to one year. Initial screening is carried out at the Hope Generation Institute or designated centers with approved genetic counselors. Then, a final assessment and testing will be carried out at the Hope Generation Foundation Research Center.  Screening applicants should be introduced to the primary screening center via designated eye specialists or metabolic sub-specialist pediatricians. After a pedigree analysis and clinical re-evaluation, all qualified patients  will be tested. Upon funding the project, up to 5 phases will eventually investigate up to 5,500 cases.

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