View Only- New Disease Gene Discoveries – Genetic and Functional Evidence-New Disease Gene Discoveries

Video Transcription

Video Summary

The ACMG Genomics Case Conference discussed new disease gene discoveries, genetics, and functional evidence. The webinar was hosted by Baylor College of Medicine and supported by QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform. The presenters included visiting assistant professor Xia Wang, clinical postdoctoral fellow Dr. Chunan Chen, and Professor Christian Schaaf. In their presentations, the presenters discussed the discovery of new disease genes using examples of ABL1 and TRAF7 genes. For ABL1, they identified de novo missense variants in individuals with congenital heart defects and skeletal malformations. The functional studies revealed an increased activity of ABL1 kinase in these variants. For TRAF7, they identified missense variants in individuals with developmental delay, congenital heart defects, digital anomalies, and dysmorphic facial features. Functional studies showed a reduction in phosphoERK1 and ERK2 in the TRAF7 variants. The presenters emphasized the importance of genetic evidence, functional studies, and replication of findings in establishing a gene-disease relationship. They also mentioned the ClinGen project, which provides a standardized approach to curate evidence for gene-disease associations. The webinar concluded with a Q&A session.

Asset Subtitle

Hosted by Baylor College of Medicine

Keywords

ACMG Genomics Case Conference

disease gene discoveries

genetics

functional evidence

Baylor College of Medicine

QIAGEN Bioinformatics

Ingenuity Clinical Decision Support Platform

ABL1 gene

TRAF7 gene