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Far from Futile: The Value of Perimortem Rapid Exome (MTCC - Exhibit Halls DE) - Jan 10, 2024 - Abstract #ACMG2024ACMG_926;
For our patient's family, benefits of learning a result in the perimortem period included the ability to confirm a diagnosis and find closure without further investigations like autopsy, avoiding the need to be re-contacted or return to the medical center where their child died to discuss results, and improved coverage of testing compared to postmortem testing. Additionally, compared to autopsy, rapid genomic testing provides results in at least 1-2 weeks while autopsy can take 6-12 weeks to complete.
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Journal: Predicting Deleterious Non-Synonymous Single Nucleotide Polymorphisms (nsSNPs) of HRAS Gene and In Silico Evaluation of Their Structural and Functional Consequences towards Diagnosis and Prognosis of Cancer. (Pubmed Central) - Nov 16, 2022
Stability analysis predicted rs1554885139, rs770492627, rs1589792804, rs730880460, rs104894227, rs104894227, and rs121917759 as unstable...Furthermore, Kaplan-Meier bioinformatics analyses indicated that the HRAS gene deregulation affected the overall survival rate of patients with breast cancer, leading to prognostic significance. Thus, based on these analyses, our study suggests that the reported nsSNPs of HRAS may serve as potential targets for different proteomic studies, diagnoses, and therapeutic interventions focusing on cancer.
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Clinical, Journal: Novel Associations Between Interleukin-15 Polymorphisms and Post-training Changes of Body Composition Parameters in Young Nonobese Women. (Pubmed Central) - Jul 25, 2019
Based on the important role of interleukin-15 (IL-15) in human metabolism and, in consequence, in body composition modulation, we examined whether rs1589241 and rs1057972 polymorphisms, analyzed individually or in combination, would influence the effects of a training program...Our data highlight novel associations between specific IL-15 genotype and different post-training changes of FM% and FFM parameters. The results suggest that harboring the rs1057972 A allele and/or the [T;A] haplotype is favorable for achieving specific positive training-induced body composition changes.
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Journal: Large-scale exploratory genetic analysis of cognitive impairment in Parkinson's disease. (Pubmed Central) - Nov 30, 2017
These included GBA rs2230288 (E326K; PFDR = 2.7 × 10-4) for JoLO, PARP4 rs9318600 (PFDR = 0.006), and rs9581094 (PFDR = 0.006) for HVLT-R total recall, and MTCL1 rs34877994 (PFDR = 0.01) for TMT B-A...We have conducted the first large-scale PD cognitive genetics analysis and nominated several new putative susceptibility genes for cognitive impairment in PD. These results will require replication in independent PD cohorts.
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