View Only-Adult Genetics in the Pacific Northwest: The View from Seattle-The View from Seattle- MP4

Video Transcription

Video Summary

The video transcript summarizes a case conference hosted by the University of Washington. The first case presented is of an 18-year-old woman with a movement disorder called ADCY5-related dyskinesia. The patient had choreiform movements of her limbs and mild dysarthria, which persisted during sleep. The presentation discusses the genetic basis of ADCY5-related dyskinesia and the challenges in diagnosing and treating this condition. The second case presented is of a 65-year-old man with pancreatic cancer and a strong family history of the disease. Genetic testing revealed a mutation in the BRCA2 gene. The presentation emphasizes the importance of identifying genetic causes of cancer and the implications for treatment and screening in at-risk family members. The third case presented is of a 32-year-old man with colon cancer. He was found to have a mutation in the P10 gene, indicative of Cowden syndrome. The presentation highlights the different hereditary colon cancer syndromes and the importance of genetic testing and screening in high-risk individuals. The video concludes with a question and answer session, addressing various questions about the featured cases.

Keywords

University of Washington

ADCY5-related dyskinesia

genetic testing

pancreatic cancer

BRCA2 gene

Cowden syndrome

hereditary colon cancer syndromes

diagnosing

treating