Webinar information
Date: June 19, 2024
Time: 9:00 AM PT / 6:00 PM CEST
Mitochondrial diseases are one of the most common metabolic disorders, affecting over 1 in 5000 individuals. Resulting from hereditary defects in the mitochondrial respiratory chain, their varied severity, presentation, and affected tissues often pose diagnostic challenges, exacerbated by the absence of mitochondrial DNA (mtDNA) analysis from conventional genetic testing panels. This omission often leads to diagnostic delays as healthcare providers must order separate tests to complete a comprehensive diagnostic workup.
In this webinar, we explore the genetic underpinnings of mitochondrial diseases, spotlighting the mitochondrial genome and the intricacies of mtDNA testing via next-generation sequencing. We also discuss the advantages of integrating mtDNA analysis into disease specialty panels, enhancing diagnostic efficacy, and expediting patient care. Through compelling case examples, we demonstrate the clinical impact of this comprehensive testing approach.
Webinar objectives
- Explore the mitochondrial genome and its role in hereditary conditions
- Outline key considerations for mitochondrial genome testing
- Analyze Blueprint Genetics’ case examples to illustrate the benefits of integrating mitochondrial DNA analysis into diagnostic panels
Unable to attend live? By registering, you will receive a link to a recording of the webinar to watch at your convenience.
Speakers
Torry Howell
Torry Howell, MS, CGC is a clinical genomic liaison at Blueprint Genetics. She received her Bachelor of Science in Biology from Boston College in Boston, Massachusetts and her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas. She is certified by the American Board of Genetic Counselors. Prior to joining Blueprint Genetics in 2022, she worked as a genomic science specialist for Quest Diagnostics in Marlborough, Massachusetts and as a genetic counselor in a hereditary oncology clinic at Scripps Memorial Hospital in La Jolla, California.