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Session Information

FRM F118 - Genetics and Genetic Testing: Beyond Mendel

Open admission to eligible categories, no tuition or ticket


Date: Monday, March 04

CME Credits: 2.00

Location: Room B114/115

Time: 1:00 PM - 3:00 PM

Director: Sharon A. Glick, MD, FAAD


  • Keith Choate, MD, PhD, FAAD
  • Daniela Kroshinsky, MD, MPH, FAAD
  • Sancy A. Leachman, MD, PhD, FAAD
  • Anne W. Lucky, MD, FAAD

Learning Objectives:
Following this course, the attendee should be able to:

  • Discuss the recent scientific advances in the genetic testing of melanoma, epidermolysis bullosa, and other genodermatoses.
  • Develop strategies to implement new genetic testing methods such as exome sequencing in the diagnosis of inherited skin disease.
  • Recognize new advances in prenatal diagnosis such as preimplantation genetic diagnosis.

This session will provide attendees with updates on genetic testing for skin disease including melanoma, epidermolysis bullosa and the ichthyoses and the latest techniques for prenatal diagnosis. The session will include a presentation on exome sequencing, a powerful new cost-effective method for identifying genes previously unidentifiable using conventional genetic studies. Direct to consumer genetic testing will be presented. Finally, ENCODE, The Encyclopedia of DNA Elements will be discussed.


Monday, March 04
1:00 PMIntroduction / Dr. Glick
1:05 PMOverview of Recent Advances / Dr. Glick
1:20 PMEpidermolysis bullosa and genetic testing / Dr. Lucky
1:40 PMMelanoma and genetic testing / Dr. Leachman
1:55 PMDirect to consumer genetic testing / Dr. Leachman
2:00 PMQ and A / Dr. Glick, Dr. Leachman, and Dr. Lucky
2:10 PMExome sequencing / Dr. Choate
2:30 PMPrenatal/Preimplantation Genetic Diagnosis / Dr. Kroshinsky
2:50 PMQ and A / Dr. Choate and Dr. Kroshinsky