June 2020

Conference: NDF GNEM Symposium Speaker Series
Title: Research Update on collected GNEM patient samples
Presenter: Katherine Koczwara and Monkol Lek
Link to recording
 

April 2021

Event: Yale 3 minute thesis competition final
Title: A Scientist’s guide to avoid becoming a movie villain: The Responsible and beneficial use of gene editing tools
Presenter: Kaiyue Ma
Link to recording
 

August 2021

Conference: NDF GNEM Symposium Speaker Series
Title: Translational GNE Myopathy Research in Cell Models
Presenter: Katherine Koczwara
Link to recording
 

October 2021

Conference: American Society of Human Genetics (ASHG)
Title: Assessment of mitochondrial genome constraint in the gnomAD database of 50,000 individuals using a composite likelihood model
Presenter: Nicole Lake
Link to recording

 

March 2022

Conference: Muscular Dystrophy Association (MDA) Clinical & Scientific Conference
Title: Using CRISPR/Cas9 nickase as a novel approach to correct large duplications in DMD
Presenter: Shushu Huang
Link to recording

Conference: Muscular Dystrophy Association (MDA) Clinical & Scientific Conference
Title: Using high-throughput assays to improve the interpretation of rare variants in the context of the dystroglycanopathies
Presenter: Kaiyue Ma
Link to recording

 

October 2022

Conference: NDF GNEM Symposium Speaker Series
Title: Developing an AAV Gene Therapy for GNE Myopathy (GNEM)
Presenter: Katherine Koczwara
Link to recording