NFXF Webinar Series – I Have the Fragile X Premutation…Now What?
March 6 @ 8:00 PM – 9:00 PM EST
Join us for the next topic of the NFXF Webinar Series – I Have the Fragile X Premutation…Now What?. Drs. Deborah Barbouth, Emily Allen, Reymundo Lozano, and David Hessl will join us as we discuss the Fragile X premutation. The conversation will include a discussion about important healthcare considerations related to the Fragile X premutation and associated conditions, family planning, self-care/wellness, research across the Fragile X premutation, and the International Fragile X premutation registry. The webinar will be a one-hour Q&A session, moderated by Hilary Rosselot.
We recommend reviewing the 2022 Premutation Panel Discussion:
Come prepared with your questions. You may also submit your questions in advance when completing your registration. Additional questions may be asked during the webinar or email us at contact@fragilex.org. We will do our best to answer as many questions as possible.
The webinar will be recorded and available to all registrants.
Learn More About the Panelists
Dr. Deborah Barbouth is the medical director of the multidisciplinary South Florida Fragile X Clinic (SFFXC). She has contributed to the clinical care of patients and delved into the realm of translational genetics. The SFFXC provides comprehensive care and treatment to children and adolescents affected by Fragile X, while also offering compassionate support, services, and referrals to local and community programs. With the long-term vision of having a Fragile X clinic that serves all members of a family. The clinic has expanded to include an adult neurologist and psychiatrists to serve adults with Fragile X-associated tremor/ataxia syndrome (FXTAS), adults with Fragile X, and mothers of individuals with Fragile X.
Emily Allen graduated from the University of Georgia with a bachelor’s degree in biology and from Emory University with a PhD in genetics. She has worked on studies of Fragile X-associated disorders at Emory University with Dr. Stephanie Sherman since the early 2000s. Her primary research focus has been on disorders and characteristics associated with the Fragile X premutation, such as Fragile X-associated primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS).
Dr. Lozano, Assistant Professor of Psychiatry, Genetics and Genomic Sciences, and Pediatrics, is a pediatric and adult clinical geneticist with neurodevelopmental and aging research training. He has dedicated his research to better understand the molecular basis of neurodevelopmental disorders including autism and dementia. He directs the Fragile X Syndrome (FXS) Clinic at Mount Sinai and specializes in the treatment of FXS, Kabuki syndrome, Wiedemann-Steiner syndrome, and FOXP1. As a collaborator on several clinical trials in FXS and autism, Dr. Lozano is committed to finding targeted treatments and has consulted for genetic laboratories, pharmaceutical companies, and other non-profit organizations.
Dr. Hessl David is a licensed psychologist. His clinical interests involve cognitive, emotional, and behavioral evaluation of children, adolescents, and adults with neurodevelopmental disorders including Fragile X syndrome and autism. David is currently the director of the Translational Psychophysiology and Assessment Laboratory (T-PAL). His research focuses primarily on genetic, brain, environmental, and neuroendocrine factors affecting cognition and behavior in individuals with Fragile X-associated disorders. A second focus of Dr. Hessl’s work is the study of the Fragile X premutation. David co-directs an NIMH-funded project examining the trajectory of changes over time in brain structure, neuropsychology, and neurological/motor functioning in those with the FMR1 premutation. He is a leader of the efforts and a member of the Advisory Committee for the International Fragile X Premutation Registry.
