ASXL RARE RESEARCH ENDOWMENT

Matched Genetic Counseling Student:

Elian Silverman Bentley is a second-year genetic counseling student at Vanderbilt University. Prior to pursuing genetic counseling, she earned a master’s degree in science writing from Johns Hopkins University in 2019. Elle has written for healthcare advertising agencies, the TED Ideas Blog, the TED Blog, and Grinnell Magazine.

Student Initiatives:

I will create a series of family-centered written articles and accompanying short videos (recorded PowerPoint presentation with video voice-over) that address the following questions:

1. What causes ASXL-related disorders?

2. What does my child’s genetic report mean?

3. What are epigenetics and how does that relate to ASXL-related disorders?

4. Gene therapy seems really promising. Is it possible in ASXL-related disorders?

Proposed ARRE Foundation projects:

Apply science writing and communication skills to create educational videos and write articles for families affected by ASXL-related disorders

• Learn to be an effective advocate for patients and families affected by ASXL related disorders (and the rare disease community, more broadly)

• Employ the principles of health literacy in the creation of resources for a lay audience to ensure that the information is engaging and digestible

• Aid families and patients in understanding their potential role and opportunities for involvement in research