From News Desk
King Faisal Specialist Hospital and Research Centre (KFSHRC) has reinforced its position as an institution engaged in rare disease research by contributing nearly 10% of the global entries in the Online Mendelian Inheritance in Man (OMIM) database, a major reference for genetic and hereditary disorders.
By generating such a significant share of entries, KFSHRC not only enhances the understanding of rare diseases but also empowers the international scientific community with essential genomic data, fostering innovation in precision medicine and the development of novel therapies.
OMIM, maintained by Johns Hopkins University, contains over 27,000 entries on human genes and genetic conditions; and has been continuously updated for more than five decades. It serves as the daily reference point for nearly every clinician and researcher in genetics worldwide, making KFSHRC’s contribution a vital part of advancing rare disease diagnostics and the interpretation of genetic mutations.
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