Thought Leader Perspectives

This year’s Genetics Virtual Week features valued customers and experts in the areas of rare disease genomics, molecular diagnostics, and precision medicine. Below are some compelling discussions that you won’t want to miss. Can't make the live event? Register and get access to the recordings.

WEDNESDAY, APRIL 20, 2022 | 1:30PM PDT/4:30PM EDT   Panel Presentation: Curating the Genome to Drive Precision Diagnosis in Clinical Care   Catherine Nester Vice President of Physician and Patient Strategies, Inozyme Pharma   Mark Kiel, MD, PhD Chief Scientific Officer, Genomenon The speakers will discuss how to surmount obstacles related to translating sequencing data into actionable results and propose curated variant content shared with the clinical community as a novel approach for accelerating rare disease diagnostic workflows and connecting patients to clinical studies and approved therapies. Learning Objectives: Identify how a combination of AI-based indexing and expert, manual review is used to produce disease-specific curated content. Summarize the clinical characteristics, diagnosis, and clinical testing for ENPP1 Deficiency. Examine how integration of disease-specific curated content into the variant interpretation workflow can increase diagnostic and treatment rates.

About Genomenon

Genomenon is an AI-driven genomics company that organizes the world’s genomic knowledge to connect patient DNA to scientific research in the diagnosis and development of treatments for patients with rare genetic diseases and cancer.

For more information, visit Genomenon.com