Yale researchers cited among top 10

Among the top 10 scientific breakthroughs of 2006, the journal Science has noted the work of two faculty members and a Yale alumnus for their research on the genetics of macular degeneration, the capacity of stem cells to copy themselves and the decoding of the Neanderthal genome.

The journal cited genomic studies of age-related macular degeneration (AMD) led by Josephine J. Hoh, Ph.D., associate professor of epidemiology and of ophthalmology and visual science, along with other studies as representing significant progress against the disease, the most common cause of blindness in people over the age of 50. In 2005, Hoh and colleagues linked a variant of a gene on chromosome 1 with the milder dry form of AMD. Last year a group led by Hoh identified a single change in a gene on chromosome 10 that leads to a much greater risk of developing the more aggressive wet form of the disease. [See “Yale Scientist Finds Two Genetic Anomalies Linked to Macular Degeneration.”]

Haifan Lin, Ph.D., professor of cell biology and director of the Yale Stem Cell Center, was one of four scientists who contributed to breakthroughs in the understanding of small RNA molecules known as Piwi-interacting RNAs,or piRNAs. Lin’s lab first discovered Piwi/Argonaute genes, which are essential for the self-renewal of stem cells, in 1998. But it was not understood what role these genes play in stem cell division until last year, when Lin’s group showed that Piwi/Argonaute proteins bind to piRNAs.

Alumnus Jonathan Rothberg, Ph.D. ’91, founded and chairs 454 Life Sciences, a Branford, Conn., company that created technology for the rapid sequencing of genomes. Two of the labs on the top 10 list used this technology, and Lin is using it in his work. Rothberg and collaborators in Europe analyzed DNA from a 38,000-year-old Neanderthal fossil and found that the difference between the human and Neanderthal genomes is just one base pair in 2,000.