What is Li-Fraumeni Syndrome (LFS)?

What is Li-Fraumeni Syndrome (LFS)?

The goal here is to try to get information to people who have just been diagnosed, who are completely overwhelmed by this whole thing, so let’s start with the basics: what is Li-Fraumeni syndrome? Well, Li-Fraumeni syndrome is an inherited cancer condition. It’s caused by mutations in a gene that’s called TP53. Individuals who have…

Integrating genomics into pediatric primary care: a public health perspective

>>Muin Khoury: Hello everyone. I’m Muin Khoury, Director of the Office of Public Health Genomics, at the Centers for Disease Control and Prevention. I’m truly delighted today to speak with you about the integration of genetics and genomics into pediatric primary care. In the next decade, we’ll have increasing opportunities for such integration. This will…

Molecular Diagnostic Tests in Children With Autism Spectrum Disorder

Molecular Diagnostic Tests in Children With Autism Spectrum Disorder

[ Music ]>>The JAMA Network. [ Music ] [ Silence ]>>Hello. My name is Bridget Fernandez. I’m a medical geneticist working in Saint Johns Newfoundland, and I’m a Professor of Genetics and Medicine at Memorial University of Newfoundland. The Autism Spectrum Disorders are remarkably heterogeneous in terms of their clinical presentation as well as the…