We are incredibly excited to attend the American Society of Human Genetics (ASHG) 2025 Annual Meeting in Boston! This meeting provides a forum for presentation and discussion of cutting-edge science in all areas of human genetics and genomics. We have posted a quick summary of our planned events below.
Find us at booth #629!
Wednesday, October 15, 3:15 - 3:45PM at Theater 2 Exhibit and Poster Hall/Lower Level
The omics era has greatly expanded the repertoire of approaches available for researchers and clinicians to unravel the complexity underpinning human health. Next Generation Sequencing (NGS) approaches can characterize genomes, epigenomes, transcriptomes, proteomes and metabolomes. Here we present comprehensive multiomics workflows utilizing both short- and long-read technologies to rapidly produce a diverse set of results from a single sample. High throughput integrative omics workflows drive greater insights in human health, allowing for a rapid combined approach to address the biological questions at hand.
Presenter Bio: With over 15 years of experience with multiomics technologies, Dr. Andrea O’Hara guides technological innovations and life-cycle management at GENEWIZ from Azenta Life Sciences. She earned her Ph.D. from the University of North Carolina at Chapel Hill in genetics and molecular biology and a B.A. in biology from The John Hopkins University. Dr. O’Hara completed her postdoctoral training at the National Institutes of Health, focusing on genomic alterations in various endometrial cancers.
Katye Milligan, Kuan Yu Cheong, Xiangying Mao, Carrie Ziemniak, Andrea O’Hara, Chris Mozdzierz, David Corney, Haythem Latif
Omics Technologies Poster Wednesday Session (October 15, 2:30-4:30PM): Board 4036W at Exhibit and Poster Hall/Lower Level
High-throughput screening using traditional or 3D organoid cell culture has become a foundational tool in the process of identifying compounds, small molecules, or biologics with potential pharmaceutical activity that can be studied further in lead optimization studies. Recent advances in NGS have built upon this research by incorporating low-cost, high throughput transcriptional screening assays with phenotyping approaches. Incorporating proteomic insights with a multi-omic approach provides a more complete understanding of cellular activity. Recent advances in proteomics technologies, including proximity-extension assays, have enabled reduced-cost, high-plex, scalable analysis of the proteome without sacrificing quality.
In this proof of principal study, RNA-seq and Olink proteomics were used on a series of samples as a means to incorporate high-plex multi-omic analysis in the early drug discovery pipeline. HT1080 cells were exposed to varying levels of TNF-alpha. Cell lysates and culture medium were collected and analyzed in parallel to characterize the intra-cellular and inter-cellular signaling responses. To test both the sensitivity, specificity and reproducibility of the proteomics assay, one microliter per sample was used to determine abundance of approximately 1,000 proteins in the well-characterized NF-kB response. Transcriptional changes were also confirmed using traditional RNA-Seq methods. As these results show, high-throughput proteomic analysis, together with transcriptional alterations detected by RNA-seq, support and confirm multi-omic changes, indicating proteomic analysis can also be leveraged for drug screening.
Andrea O’Hara, Laure Turner, Jeff Tio, Yongjun Fan, Haythem Latif
Omics Technologies Poster Thursday Session (October 16, 2:30-4:30PM): Board 4055T at Exhibit and Poster Hall/Lower Level
Amyotrophic lateral sclerosis (ALS) is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. The pathological hallmark of ALS is the presence of inclusion bodies (abnormal aggregations of protein) in the cytoplasm of motor neurons, with TDP-43, SOD1 and FUS proteins being most common. These proteins aggregations can be due to a host of mutations to these protein encoding genes directly, or by mutations to genes associated with protein degradation, cytoskeleton and axonal transport. Over 40 genes have been identified as being associated with Amyotrophic Lateral Sclerosis (ALS). While some of these genes are more common than others, they collectively account for a significant portion of both familial and sporadic ALS cases. Cell-free nucleic acids can be used as robust biomarkers to determine disease development and progression, with liquid biopsy being an efficient method to detect specific cfRNA. Specifically, cfRNA can be utilized to detect cryptic introns: an intron that is not spliced out and is released into the blood stream in patients with ALS.
Here we describe liquid biopsy cfRNA extraction and RNA-Seq analysis on a series of ALS affected and control samples. Preliminary testing of the cfRNA isolation method was first applied to a series of liquid biopsy control samples spiked with miRNA. Traditional methods of cfRNA isolation may be unable to achieve sufficient yields to detect the low allele frequency rates required for liquid biopsy testing. Several extraction kits were tested including a novel cfRNA isolation technique that has highly efficient recovery rates of cfRNA with variable input amounts of 1-100 mL of sample. Following successful pilot studies with control samples, cfRNA was isolated from 5 additional liquid biopsy samples: 4 diagnosed ALS and one healthy control. The cfRNA was then subjected to highly sensitive RNA-Seq to evaluate a series of ALS-associated biomarkers. As these results show, cfRNA can be extracted from a limited amount of plasma, with detection of rare biomarkers associated with disease. This method is not limited to plasma and cfRNA, with the potential for application in other biofluids including urine, and other nucleic acid types including mitochondrial DNA.
Stop by our booth to snap a picture with Gene the Wizard and be entered to win an exclusive prize pack!*
*Terms and Conditions: To qualify for the GENEWIZ Picture Post promotion, you must take a picture of yourself/your group with Gene at the GENEWIZ Booth, ASHG booth 629, and then post the picture on LinkedIn, X or BlueSky, tagging #GWZASHG. By entering, you agree to indemnify and hold harmless GENEWIZ, its affiliates, officers, directors and employees from any third party claims arising in connection with your entrance in the contest, including any claim of violation of an individual’s right to privacy or publicity. Odds of winning are based on number of participants. One winner will be chosen and will receive a prize pack valued <$100 USD.