EGL Genetics Blog

Join Us For An Educational Webinar on EGL's Medical EmExome

Posted by Wendy Sheats on Jan 7, 2016 11:06:00 AM

Exome_Webinar_Image_JPG.jpg

Click Here to Register  <http://info.geneticslab.emory.edu/webinar-medical-emexome-a-new-strategy-for-diagnosing-patients-with-genetic-disordors>

Registration will close 1-hour prior to the webinar.

Please join us for this 1-hour discussion of EGL's Medical EmExome.

The purpose of this webinar is to answer frequently ask questions about clinical exome sequencing like:

  • What is the Medical EmExome?
  • When to choose the Medical EmExome?
  • What is the differences between trios analysis vs proband only analysis?
  • How to order Medical EmExome testing?

We will also discuss interesting EmExome cases which highlight successes and limitations of clinical exome sequencing.


Presenters

Associate Professor

Senior Director, Molecular Diagnostic Laboratory

Chief Quality Officer

Emory Genetics Laboratory (EGL)

Department of Human Genetics

Emory University

 

Lora J. H. Bean is an Associate Professor in the Department of Human Genetics and a Director of the Emory Genetics Laboratory Molecular Diagnostic Laboratory. She earned her B.S. degree from the Pennsylvania State University in Biology with an emphasis in Developmental Biology and Genetics and her PhD in the Department of Human Genetics at Case Western Reserve University. As a postdoctoral fellow at Emory University, she ascertained a large sample of Down syndrome with complete AVSD. This research has continued to determine in the role that genetic variation within genes play in the etiology of heart defects in Down syndrome.

 While at Emory University she also completed clinical laboratory training and achieved certification from the American Board of Medical Genetics in Molecular Diagnostics. Dr. Bean served as Laboratory Director in the Molecular Diagnostic Laboratory at Emory Genetics Laboratory (EGL) beginning in 2005 and continuing as a Senior Director in the Molecular Diagnostic Laboratory in 2013. The EGL Molecular Diagnostic Laboratory performs traditional clinical molecular testing, such as genotyping, fragment analysis and Southern blotting, but also newer techniques such as sequencing for rare diseases, next generation sequencing, gene targeted microarrays, and most recently whole exome sequencing. Dr. Bean has an interest in the application of molecular techniques in newborn screening and was responsible for implementation and oversight for the first five years of second tier molecular testing for cystic fibrosis newborn screening in the state of Georgia. In addition, Dr. Bean serves as a member of the American College of Medical Genetics Laboratory QA / QC Committee, an item writer for the American Board of Medical Genetics and a laboratory inspector for the College of American Pathologists.

 

Lindsey C. Mighion, MS, CGC

Laboratory Genetic Counselor

Emory Genetics Laboratory (EGL)

 

Lindsey Mighion is a board certified genetic counselor at Emory Genetics Laboratory. She received a B.A. in Biology from the University of North Carolina at Chapel Hill before earning a Master’s in Genetics, Genomics and Bioinformatics from the University of Connecticut. Lindsey has been a laboratory genetic counselor since completing her Master’s in genetic counseling at Arcadia University in 2013. Prior to working at EGL, she worked as a laboratory counselor at the Genetic Diagnostic Laboratory at the University of Pennsylvania.

Lindsey has worked as a molecular laboratory counselor at EGL for the past year, where she plays an active role in variant classification, correlation of patient clinical features with exome data, and communicating results of exome sequencing to healthcare providers.

Topics: exome sequencing, Medical EmExome

 

 

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