2017-Present: “Genetic Profiling of Common Hereditary Disorders to Identify the Distribution of Mutations in Iran Provinces: Hope Project”

Principal Investigator: SR Ghaffari

Principal associate Investigator: M Rafati

The first phase of this project which attracted >700,000$ has focused on genetic profiling of 1000 patients (in the first phase) with inborn errors of metabolism, neurogenetic disorders or inherited retinal dystrophies by targeted capture sequencing using Ion Ampliseq Inborn Errors of Metabolism (594 gees), Ion ampliseq Neurological (751 genes) or Ion Ampliseq Ophthalmology (316 genes) panels

Be the first to comment

Leave a Reply

Your email address will not be published.


This site uses Akismet to reduce spam. Learn how your comment data is processed.