2021 ACMG Annual Clinical Genetics Meeting - Product Theaters-Precision Medicine and the Application of -Omics for Lysosomal Storage Disorders

Precision Medicine and the Application of -Omics for Lysosomal Storage Disorders

Video Transcription

Video Summary

In this Takeda-sponsored video presentation by Wael Al-Hurtani, a clinical geneticist and metabolism physician at Boston Children's Hospital, the topic of discussion is the evolving approach to precision medicine. Precision medicine takes into account individual variability in genes, environment, and lifestyle to tailor treatment to an individual's genetic background or genotype. Key components of precision medicine include genomics, proteomics, metabolomics, and transcriptomics. The Precision Medicine Initiative, launched in 2015, aims to accelerate understanding of individual variability and improve health by tailoring prevention and treatment of disease to genetic, environmental, and lifestyle variations. The video discusses how precision medicine applies to rare diseases, such as lysosomal storage disorders. It explores the importance of newborn screening, metabolomics, and biomarkers in precision medicine for lysosomal storage disorders. The presentation also includes case studies illustrating the impact of precision medicine in patient management. The video concludes with a discussion of future directions in advancing precision medicine for lysosomal storage disorders, such as the need for better molecular diagnostics, data analytics, and biorepositories. Overall, precision medicine offers personalized and targeted approaches to improve patient care and outcomes.

Asset Subtitle

Takeda US Medical

Keywords

precision medicine

individual variability

genomics

metabolomics

lysosomal storage disorders

patient care