ASXL Symposium Series - Part I

AЯRE ASXL Conference 2018, UCLA Los Angeles - Loren D.M. Pena, MD, PhD:

Shashi Pena Syndrome - The new kid on the ASXL block

Loren D.M. Pena: “I am a clinical geneticist with a strong interest in new gene discovery and development of new therapies for rare disorders. As an investigator in the Undiagnosed Diseases Network at Duke, I was part of the team that described the initial cohort of individuals with ASXL2 disorders. I am also a clinical trialist in the rare disease space and have been involved in studies utilizing the most cutting edge technologies, including gene therapy. We are living in a time of rapid knowledge acquisition, and I am excited to partner with the AЯRE Foundation in further developing our knowledge of the ASXL disorders.”

View Part 1 of the presentation here:

View part 2 of the presentation here: