Advances in sequencing the genome are unlocking mysteries about the underlying causes of both common and rare diseases. In an effort to build on this existing research, The National Institutes of Health said last month that it will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases. As part of this effort the Centers of Mendelian Genomics is expected to get $40 million in new funding, as well as additional monies from other NIH divisions. We spoke to Lu Wang, director of the National Institutes of Health’s Center for Mendelian Genomics, about the center’s efforts to understand rare diseases, what’s been accomplished to date, and the significance of this new round of funding.

1 thought on “RARECast: Unlocking the Genetic Mysteries of Rare Diseases”

  1. Maureen McCutcheon says:

    With the Centers and new round of funding, would appreciate and hope there will be research of the rare conditions of Periodic Paralysis that will help to facilitate diagnoses and provide increased understanding with more up-to-date accurate info about the Genes and mutations responsible for Periodic Paralysis and also features that will hopefully also provide knowledge that will correct old and contradictory mis-info that hinders ability to get diagnosis at clinical level. At this time it’s estimated takes 20+ to get diagnosis, if get one at all. Some members of our support group have taken longer. Even over 50 years.

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