2018 ASXL Research Symposium proceedings
Shashi Pena Syndrome - The new kid on the ASXL block
Presenter: Loren Peña, MD, PhD (Cincinnati Children’s)
Los Angeles, California, USA
July 27, 2018
Dr. Peña is 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, she was part of the team that described the initial cohort of individuals with ASXL2 disorders. She is also a clinical trialist in the rare disease space and have been involved in studies utilizing the most cutting edge technologies, including gene therapy. Dr. Peña says, “We are living in a time of rapid knowledge acquisition, and I am excited to partner with the ARRE Foundation in further developing our knowledge of the ASXL disorders.”