Unlocking the Genetic Mysteries of Rare Diseases

Advances in sequencing the genome are unlocking mysteries about the underlying causes of both common and rare diseases. In an effort to build on existing research, The National Institutes of Health last month said 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.