Gene Function Studies to Investigate Rare and Undiagnosed Diseases
Since 2008, the Undiagnosed Disease Program (UDP) in NHGRI's Intramural Research Program has identified more than 15 gene variants that may play a role in very rare disorders. As part the program's 2012 expansion, the NIH Common Fund UDP has just announced funding for researchers to determine what these genes do and whether they are involved in diseases. Read the Announcement Read additional FOA information
NIH researchers link enzyme deficiency with faulty DNA replication and cancer
NIH researchers have discovered a cancer-causing flaw that can occur when ATAD5, one of many enzymes in the replication process, is deficient. The defect causes DNA replication to stall and the normal precision of replication proteins to become chaotic. The study appeared in the Dec. 31, 2012, advance online issue of the Journal of Cell Biology. Read more
Video for The Genetics of Parkinson Disease: Insights from a Mendelian Disorder is now available
On Dec. 7, 2012, Ellen Sidransky, M.D., senior investigator in NHGRI's Medical Genetics Branch, presented The Genetics of Parkinson Disease: Insights from a Mendelian Disorder. The full video of this third lecture in the Genomics in Medicine Lecture series is now available. See the Video
Bioluminescent comb jellies begin to shed light on the evolution of vision
Bioluminescent sea creatures that emit and detect light are providing clues to the evolution of sight and may, in time, shed light on our understanding of eye diseases. Research published in the December 21 issue of BMC Biology has pinpointed the genes involved in making and sensing light in this organism.
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