Faculty, postdocs and scientists from the HudsonAlpha Institute for Biotechnology took their research to San Diego to share with scientists at the 2018 American Society of Human Genetics (ASHG) annual meeting. Researchers from the Institute contributed to the conference’s panel sessions, presentations and posters.

Kelly East, a genetic counselor from the HudsonAlpha Educational Outreach team, presented, “Supporting the practice of genomic medicine on the front lines,” and participated in a broader panel session on spreading genomic literacy to the masses, co-moderated by HudsonAlpha’s Adam Hott, EdD. The team shared expertise on helping a wide variety of audiences engage with and understand genomic medicine in a practical way. Those audiences can range from medical professionals to the patients themselves.

Representatives from the Institute also showcased a number of posters on Wednesday. From Greg Cooper’s lab, Michelle Thompson, PhD, Matthew Neu and Kevin Bowling, PhD, presented their research.

Thompson’s poster dealt with the sequencing results of a primarily trio-based cohort of 572 probands with developmental delay and intellectual disability (DDID). The research compared genetic sequencing for DDID patients with their parents, searching for de novo variations. The study generated a 29% diagnosis rate.

In part through that research, the Cooper Lab was able to establish a novel association of a variation on the RALA gene with a neurodevelopmental disorder. Neu’s poster covered the specifics of the new development. Researchers the world over contributed to the finding, with six different groups independently submitting the gene in question for further examination. The Cooper Lab was able to synthesize the data to make the newfound connection.

Bowling detailed efforts to sequence NICU babies across the south through a program called SouthSeq. The project aims to provide whole genome sequencing (WGS) for babies born with a congenital disease, looking for a genetic diagnosis. The aim is to demonstrate the value of WGS as an initial diagnostic tool. SouthSeq aims to target rural and minority populations that are frequently underserved by genetic resources.

The Myers Lab sent Brittany Lasseigne, PhD. Lasseigne described the systematic study of chromosomal instability across human cancers. The poster explained that chromosomal instabilities are linked to multiple parts of the diagnostic and prognostic process for cancer patients. This study set out to evaluate various chromosomal instability metrics, because there is not consensus on which are most biologically and clinically relevant.