Yale studies cited among top 10
breakthroughs of 2006
Research by Haifan Lin, director of the Yale Stem Cell Center, and Josephine Hoh, associate professor in the Departments of Epidemiology & Public Health and Ophthalmology, was recognized as one of the 10 most significant scientific breakthroughs of the year by the journal Science.
Among several studies cited by the journal related to macular degeneration were two led by Hoh. In those studies Hoh and her collaborators identified a gene variant that increases the risk of developing the aggressive "wet" form of age-related macular degeneration (AMD). This disorder causes light-sensitive cells in the retina to break down, resulting in a progressive loss of central vision. It is the most common cause of blindness in people over the age of 50.
Hoh reported that she and her colleagues found a single nucleotide polymorphism, a one-base change in the sequence, of the regulatory part of the HTRA1 gene on chromosome 10, that leads to a greatly increased risk of developing the wet form of AMD.
Lin, professor of cell biology, was among four scientists whose laboratories were listed as contributing to breakthroughs in the field of small RNA molecules -- or, more specifically, Piwi-interacting RNAs (piRNAs). These molecules are abundant in the testes of several animals, including humans, and they are distinctly different from their small RNA cousins. Scientists are investigating where else in the body they might congregate.
The Lin lab first discovered the piwi/argonaute gene family in 1998. It is presently the only known family of genes essential for the self-renewal of stem cells in both animal and plant kingdoms. The scientists' studies showed that these genes also play key roles in fertility and cancers. The current discovery of piRNAs by the Lin lab and others may reveal a new way through which these genes regulate the activities of other genes. Such regulation might bear important implications to the understanding and treatment of infertility and cancers.
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