VANCOUVER, OCTOBER 23. Presentations on the genetics of nail-biting, the identification of genetic modifiers of age-of-onset of ALS (Lou Gehrig’s disease), and three late-breaking abstracts—one on the TOPMed (Trans-Omics for Precision Medicine) project, another on the epigenetics of type 2 diabetes, and the final presentation on work to evaluate the potential of exome sequencing for newborn screening were highlights of the final day of the annual meeting of the American Society of Human Genetics (ASHG) in Vancouver, Canada. Chao Tian (photo) of 23andMe presented her group’s GWAS studies that showed 24 significant genome associations with nail-biting. Interesting connections between nailbiting and depression, anxiety, and restless legs syndrome were noted. Hyerim Kim presented her group’s work on the identification of genetic modifiers of the age-of onset of ALS associated with the expanded GGGGCC repeats. Because of the difficulty in identifying truly ALS-associated rare varients, Ms. Kim did whole-genome sequencing and functional genomics in a fly model of ALS. The first of the three late-breaking abstract presentations focused on the National Heart, Blood, and Lung Institute’s (NHBLI’S) TOPMed study (https://www.nhlbi.nih.gov/research/resources/nhlbi-precision-medicine-initiative/topmed) intended to accelerate advances, particularly in the areas of lung disease, cardiovascular disease, and blood disorders. The next presentation was on type 2 diabetes (TD2) and the speaker noted that more than 100 loci have been associated with diabetes and related disorders and that the majority of these loci are located in non-coding regions, particularly in enhancer regions—thus indicating problems in expression rather than function.
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