View Only- Molecular Genetics of the Neurofibromatoses and Overlapping Disorders-Molecular Genetics of the Neurofibromatoses

Video Transcription

Video Summary

The video is a recording of the ACMG Genomics Case Conference. The conference is organized by the ACMG Education Committee and is intended to provide education on genomics and related topics. The presenters are Alicia Gomes, a Senior Board Certified Lab Genetic Counselor, and Lejeune Messiaen, Director of the Medical Genomics Laboratory and a professor in genetics. The conference covers various topics related to genomics, including the diagnosis and management of genetic disorders such as Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis. The presenters discuss the genetic basis of these disorders, the clinical manifestations, and the challenges in diagnosis and testing. They also provide information on the current understanding of genotype-phenotype correlations and the use of different testing approaches, such as RNA-based testing and next-generation sequencing. The conference aims to provide clinicians and laboratory professionals with the knowledge and tools needed to accurately diagnose and manage patients with these genetic disorders. The conference is supported by an educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Team, and continuing medical education credit is available for participants.

Keywords

ACMG Genomics Case Conference

genomics education

genetic disorders

Neurofibromatosis type 1

Neurofibromatosis type 2

Schwannomatosis

diagnosis and testing

genotype-phenotype correlations

next-generation sequencing