The article, published online on February 27, 2017, is titled “Genome-wide Analyses Identify Common Variants Associated with Macular Telangiectasia Type 2” and explores the latest findings in a 10-year study of MacTel, a relatively rare retinal disorder that affects the vasculature of the macula.
Columbia Ophthalmology researcher Rando Allikmets, PhD is the William and Donna Acquavella Professor of Ophthalmic Sciences (in Ophthalmology and Pathology and Cell Biology), and Research Director at the Edward S. Harkness Eye Institute. He is the head of genetic research of an ongoing, multi-center international effort funded by San Diego-based Lowy Medical Research Institute. Dr. Allikmets’ laboratory has been performing genetic analyses for the MacTel consortium for about 10 years now with the goal to identify the genetic basis of the disorder to guide search for therapeutic intervention. Specifically, the ongoing research is utilizing genetic information, from families with multiple members affected with MacTel and from sporadic cases from many countries around the world, obtained by several techniques including whole exome and whole genome sequencing and SNP arrays.
In this particular study, the genome-wide association analysis (GWAS) method was used by the consortium to identify the genomic loci which are associated with the development of MacTel. Significant findings include the identification of several loci associated with retinal vasculature and metabolic traits, which are hoped to hold key genetic insights and details about the disease for future detailed analyses. In short, the study revealed major pathways underlying the disease development, which are discussed in the article available here.
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