Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
Quark to File IND for Eye Disease Rx in September; New Data Shows It May Treat Glaucoma
The drug's initial indication will be non-arteritic anterior ischemic optic neuropathy, a rare condition that can lead to permanent blindness, but the company expects to ultimately develop it as glaucoma therapy.
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