Gabriella Miller Kids First Pediatric Research Program Spring Webinar and Research Showcase. Watch a recording of the full webinar.
Link to the Annual Meeting of the American Society of Human Genetics (ASHG) Meeting Recap: The Gabriella Miller Kids First DRC Partners with the NIH INCLUDE Project to Share Latest Research Breakthroughs at the 2022 ASHG Annual Meeting
Link to the full webinar: https://www.youtube.com/watch?v=N_x3iwyf5J4.
View slides from all the webinar presentations.
Kids First Investigators Presentations (starts at 19:48): Drs.Hakon Hakonarson, Nara Sobreira, Joaquin Espinosa
- Genetics at the Intersection of Childhood Cancer and Birth Defects
- Genome-wide Sequencing to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors
- Epigenome analysis in the Human Trisome Project
Link to the full webinar: https://www.youtube.com/watch?v=ieT1e_Jp8HQ
Kids First Investigator Presentation (starts at 15:43) Dr. Philip Lupo
Project: Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome
Link to full webinar:https://www.youtube.com/watch?v=A2mRd5Z5eio
Kids First Investigator Presentation (starts at 11:16): Dr.Jamie Flerlage
Project: Familial Predisposition to Hematopoietic Malignancies
Link to full webinar:https://www.youtube.com/watch?v=6lGbSnn3JGw
Kids First Investigator Presentation (starts at 4:43): Dr. Elizabeth Engle
Project: Detection of novel genetic bases for congenital cranial dysinnervationdisorders (CCDDs) using whole genome sequencing
Link to full webinar:https://www.youtube.com/watch?reload=9&v=Ei8QM5LUMqk&ab_channel=KidsFirstDataResourceCenter
Kids First Investigator Presentation (starts at 5:22): Dr. Sharon Plon
Project: Novel cancer susceptibility mutations
Link to full webinar: https://www.youtube.com/watch?v=c8SuJF0dCTA
Kids First Investigator Presentation (start at 31:29): Dr. Wendy Chung
Project: De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders