Scientific Meetings

May 2023

Gabriella Miller Kids First Pediatric Research Program Spring Webinar and Research Showcase. Watch a recording of the full webinar.

November 2022

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 

September 2022

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  
Projects:

• 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  

May 2022

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

September 2021

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

April 2021

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

October 2020

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

May 2020

Link to full webinar:https://www.youtube.com/watch?v=TddkIx3lZpI
Kids First Investigator Presentation (starts at 5:17): Dr. Mary L. Marazita
Project: Genetics studies of Orofacial Clefts 

September 2019

Link to full webinar:https://www.youtube.com/watch?v=NDatoQxvLKo 
Kids First investigator Presentation (start at 39:18): Dr. Sharon Diskin
Project: Genetic basis of neuroblastoma

April 2019

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