DBMI Set to Share Innovations and Insights in Genetics at ASHG Meeting

This year, the American Society of Human Genetics (ASHG) will hold its annual meeting in Denver, Colorado, from Nov. 5—9 at the Colorado Convention Center. The event will explore various topics, including new technologies, applications, and research highlighting the year's most compelling advancements in genetics and genomics. The Department of Biomedical Informatics (DBMI) at the University of Colorado School of Medicine (SOM) will be prominently represented by more than 15 faculty members and trainees. We spoke with several of our primary faculty to gain insights into their presentations and to understand the benefits of attending this meeting.

Spotlight on DBMI at ASHG

Harriet Dashnow, PhD

Harriet Dashnow, PhD, assistant professor of biomedical informatics, plans to explore the fascinating world of de novo mutations and tandem repeats through a poster presentation on Wednesday, Nov. 6, from 2:30—4:30 p.m. Dashnow will share insights into this groundbreaking research, revealing how her team focused on genotyping tandem repeats to identify genetic diseases. She explained, “Although tandem repeats make up only about 9% of our genome, they are responsible for a significant portion of de novo mutations."

This research hones in on the most mutable regions of genes. It showcases a novel method Dashnow and her team developed to track de novo mutations across four generations of a family. While they don’t expect to find disease-associated mutations in this family, Dashnow highlighted the value of their findings, “By studying individuals who don’t have a disease, we can uncover how these mutations occur in a non-disease context. This knowledge can then be applied to at-risk families, helping us predict potential outcomes for them.”

Iain Konigsberg, PhD

Iain Konigsberg, PhD, research instructor of biomedical informatics, will dive into the use of blood-based 'omics data to predict both cross-sectional and longitudinal traits related to chronic obstructive pulmonary disease (COPD) on Thursday, Nov 7, from 11:30—11:45 a.m. Konigsberg shared that he and his team are developing 'omic risk scores (ORS), tools that integrate various omic features to predict a wide array of traits—from lung function measurements to crucial disease outcomes like exacerbations and mortality.

He pointed out, “This talk highlights the growing potential of 'omics data to not only inform biological discovery but also to enhance clinical prediction models."  Konigsberg shared that they aim to create innovative tools to stratify patients and personalize healthcare interventions by harnessing the rich datasets from large cohorts. He explained that the ability of ORS to forecast significant outcomes, such as disease progression, marks a vital leap toward precision medicine, particularly for chronic conditions like COPD.

Konigsberg is most excited to hear more about the growing emphasis on including diverse and underrepresented populations in genetic research. He emphasized, “There’s growing attention to the role of genetics in the context of social determinants of health—the conditions in which people are born, live, work, and age. These trends are crucial for ensuring that the benefits of genetic research are equitably distributed and that we understand disease in a broader, more comprehensive context.”

The community spirit at the ASHG meeting is something Konigsberg appreciates. He added, “While much of my collaborative work is done via Zoom, there’s nothing quite like meeting colleagues in person. It’s a rare opportunity to connect with friends and collaborators from around the world, share ideas, and even unwind together at social events. Plus, industry partners are known for hosting some sick parties!”

Emily Todd, MS, CGC

Emily Todd, MS, CGC, instructor of biomedical informatics, plans to discuss the innovative process of high-impact pathogenic variant (HIPV) reporting within the biobank through a poster presentation on Thursday, Nov. 7, from 2:30—4:30 p.m. Todd will explore the crucial role of sharing genetic results with participants and their families. Todd noted, “When we share HIPV results with biobank participants, we discuss the implications of these results on the health of the participants and their biological relatives,” she added, "Individuals who receive a HIPV result from the biobank are later surveyed on their experience, and my poster discusses survey results detailing actions taken by the participants related to family communication and actions taken by the family members related to these results."

Todd shared her excitement about presenting at this year's ASHG conference, "I strongly support our group presenting at a national conference to promote our programs, educate our peers on our research, and connect with others in the field who have similar interests."

She is particularly eager to expand her understanding of the biobank's potential. Todd emphasized, “I am most interested in learning how our biobank can provide information on prevalence, expression, and penetrance of pathogenic/likely pathogenic variants and how this information differs when studying whole populations as opposed to only studying those with a related diagnosis.”

The next generation of genomic scientists 

ASHG will provide a platform for many DBMI members to showcase their research, including second-year scholars from the Pathways in Genomic Data Science program (PATH-GDS). Additionally, students from the Pathways in Genomic Research Experiences for Undergraduates program (PATH-GREU) will be present, as this will be their first conference. 

In 2023, Audrey Hendricks, PhD, associate professor of biomedical informatics, collaborated with faculty at the University of Colorado Denver and the Metropolitan State University of Denver to create two research pathways in genomic science. Five-year grants were awarded by the National Human Genome Research Institute — totaling more than $3 million — to fund the two partnerships. These programs are designed to provide students with a comprehensive experience, including three eight-week rotations and a 17-month immersive research component over the course of two years. Students engage with various labs and explore different aspects of genomic research.

We look forward to their participation in their first national conference, where they can highlight their work and expand their professional networks.

Uniting experts in genomics

DBMI and PATH-GDS presenters include:

View the full schedule for the ASHG Annual Meeting at this link.