Genetics of Fragile X

Join us as we host a panel of genetic counselors who specialize in Fragile X. Susan Howell, Rena Pressman, Marisa Vomvos, and trainee, Kate Shelly will address the intricacies of the genetics of Fragile X.

Our panelists will cover topics like genetic testing and the heritability/familial impact of Fragile X, carrier screening and panels, and family planning.

We recommend reviewing this resource prior to attending:

Come prepared with your questions. You may also submit your questions in advance when completing your registration. We will do our best to answer as many questions as possible.

If you have additional questions, feel free to email us at contact@fragilex.org. 

The webinar will be recorded and available to all registrants.

Learn More About the Panelists

Susan Howell, MS, CGC, MBA

Susan has been the Genetic Counselor and Clinic Coordinator for the Denver Fragile X Clinic, alongside Dr. Nicole Tartaglia, since 2008. She has co-authored the genetic counseling consensus document for the NFXF. She has worked on a multitude of clinical trials in Fragile X. She has been an active member of the Fragile X Clinics and Research Consortium and serves as a volunteer board member for the NFXF since 2023.

Rena Pressman, M. S., CGC

Rena Pressman is a genetic counselor at the University of Miami. She received her Masters of Science in Genetic Counseling from Arcadia University. She specializes in Fragile X syndrome, lysosomal storage disorders and pediatric genetics.

Marisa Vomvos, MS, CGC

Marisa completed her Master of Science in Genetic Counseling at Icahn School of Medicine at Mount Sinai in 2022 and became a member of the Clinical Genetics team at Mount Sinai following graduation. Since then, she has worked alongside Dr. Reymundo Lozano in the Fragile X Syndrome and Fragile X-Related Disorders Clinic, as well as in pediatric clinical genetics. She is currently the thesis advisor for a genetic counseling student’s project on caregiver perspectives on gene therapy for Fragile X syndrome.

Kate Shelly, PhD

Kate earned a PhD in Genetics and Genomics from Baylor College of Medicine, and her research focused on Fragile X-associated diseases. She moved to Atlanta in 2020 to pursue research within the Fragile X community at Emory as a post-doctoral fellow. She is excited to become a genetic counselor to contribute to the spectrum of care required by families with inherited diseases. Kate has been actively involved in the National Fragile X Foundation and was a 2022 NFXF Junior Investigator.