By Hilary Rosselot
Congratulations to 2023’s three NFXF Summer Scholars — Aditi Mahajan, Alexandra Singleton, and Maureen Butler!
The Randi J. Hagerman Summer Scholars Research Awards are designed to introduce undergraduate and graduate students to the field of Fragile X research. We do this by funding summer projects that add to the body of knowledge around Fragile X in meaningful ways.
Our 2023 awardees were asked to summarize their summer project in a 15-minute video presentation and provide a short paragraph about their experience. You can watch each of the presentations and read the summaries below.
Join us in celebrating the future of Fragile X research and thanking these students and their mentors for their dedication to Fragile X!
Aditi Mahajan
The Electroretinogram and FMRP: Correlating Biomarkers for Fragile X Disorders
Affiliation: Senior at the University of California, Davis, majoring in Global Disease Biology and minoring in History
Supervisor: Dr. Dr. Randi J. Hagerman, University of California, Davis, Developmental and Behavioral Pediatrics
Project Summary:The Electroretinogram and FMRP project will assess whether electroretinograms, which measure the activity of the retina, can be used as a reliable marker to detect deficits in FMRP in both those with FXS and those with premutation involvement. The b-wave deficits in the ERG may also correlate with other behavior problems and help us understand how BK channel deficits relate to the phenotype of FXS and premutation involvement. The study will involve a series of questionnaires and assessments, a clinical ERG reading, and molecular analyses. This study can potentially lead to an easy and quick way to screen for Fragile X involvement or FMRP deficits and how this affects behavior.
in their own words
“I worked with Dr. Randi Hagerman at the UC Davis MIND Institute during my final year as an undergraduate at UC Davis. During my fellowship I had the unique opportunity to interact directly with the Fragile X community through my work as a clinical researcher. I obtained electroretinogram readings, learned how to quantify FMRP levels in blood samples, administered sensory and adaptive questionnaires, and recognized the significance of BK channel function in those with Fragile X. I have come to learn the Fragile X community is based on a strong foundation of teamwork and support. The mentorship I received through the summer fellowship allowed me to develop my professional skills in research and appreciate the importance of interdisciplinary collaboration. The cutting-edge research at the MIND Institute represents hope and possibility for the Fragile X community. I am so grateful to have had the chance to work with Dr. Randi Hagerman and the NFXF towards the shared goal of improving the lives of those affected by Fragile X.”
—Aditi Mahajan, UC Davis MIND Institute
Alexandra Singleton
FXPOI Survey in Women’s Healthcare Providers
Affiliation: First-year student in the Emory University Genetic Counseling Training Program
Supervisor: Emily G. Allen, PhD, Emory University, Department of Human Genetics
Project Summary: Patients with Fragile X-associated primary ovarian insufficiency (FXPOI) have been reported to have a long period of time between the onset of symptoms and receiving a diagnosis, with an average time of over a year. FXPOI is defined as menopause before age 40 caused by a premutation in the FMR1 gene. Several patients have reported having to bring educational materials to their providers because they were unaware of Fragile X-associated disorders. The goals of this study are to identify the current knowledge base of FXPOI in women’s healthcare providers and to see if provider demographics affect their knowledge of FXPOI as well as to identify POI related genetic testing and carrier screening patterns in their practice.
in their own words
“Our study aims to identify where gaps in knowledge of Fragile X-associated primary ovarian insufficiency (FXPOI) lie amongst women’s healthcare providers including physicians, advanced practice nurses, and medical students. Past studies have found that the average time to a FXPOI diagnosis after symptoms begin is over one year. Additionally, patients have reported bringing educational materials to their providers because they were unaware of Fragile X-associated disorders.”
“This summer, we distributed a survey via email to women’s healthcare providers and at a conference targeted toward OBGYN providers that assessed FXPOI knowledge, familiarity with primary ovarian insufficiency, reproductive carrier screening practices, and genetics exposure. By identifying these gaps in provider knowledge, our goal is to shorten the time to FXPOI diagnosis and improve quality of care for FXPOI patients and their families through provider-focused educational materials that will be created as part of a future project.”
—Alexandra Singleton, Emory University
Maureen Butler
The Biological Basis of Pragmatic Language in Fragile X Premutation Carriers
Affiliation: First-year doctoral student within the Clinical Psychology program at the Northwestern University Feinberg School of Medicine
Supervisor: Dr. Molly Losh, Northwestern University, Communication Sciences and Disorders
Project Summary:Pragmatic language, or how we use language in social contexts like conversations, is a complex language skill that allows us to build relationships and connect with others. Individuals with fragile X syndrome have difficulties with pragmatic language and often, people with the fragile X premutation (PM) have differences in how they use pragmatic language. Despite this, little is understood about the biological and genetic foundations of pragmatic language skills in women with the PM. This project aims to understand how biological factors might influence pragmatic language skills in PM carriers. To do this, we will examine the relationship between FMR1 genetic variation, a measure that indicates how the brain hears and represents sound, and pragmatic language abilities. Through this research, we hope to gain insight into the causes of language differences in FMR1 conditions. By understanding the root of these differences, we may be able to develop target language interventions, as well as investigate the relationship between pragmatics and clinical disorders experienced by many PM carriers such as anxiety and executive function difficulties, ultimately creating a path towards targeted treatment.
in their own words
“Participating in the National Fragile X Foundation Randi J. Hagerman Summer Scholars Award has been a truly incredible experience. The program has provided me the opportunity to conduct exciting, innovative research investigating the biological bases of social communication abilities in women who carry the FMR1 premutation. Through this work, I have started examining the biological foundations of prosodic synchrony, an important skill involved in social communication, through the novel application of a statistical analysis that incorporates the temporal dynamics of speech. The preliminary results discussed in my presentation show that this methodology may be sensitive in detecting subtle language differences in premutation carriers. This is a vital first step in developing social communication interventions for individuals with FMR1 conditions that the target underlying causes of language difficulties. As I continue to advance this project, I hope to publish my results in an academic journal. Not only has the Randi J. Hagerman Summer Scholars program given me with the opportunity to initiate this exciting project, but it has also provided an important platform to share this research with the Fragile X community. For me, engaging with and sharing my work with the community has been the most rewarding and impactful element of this program. I am so grateful for this experience and am honored to have been selected to participate in the Randi J. Hagerman Summer Scholars program.”
—Maureen Butler, Northwestern University
Congratulations Aditi, Alexandra, and Maureen! Keep in touch, we can’t wait to see what your futures hold.
about
Hilary Rosselot
Hilary joined the NFXF team in 2019. Prior to joining the NFXF team, she worked at the Cincinnati Fragile X Research and Treatment Center for over five years. She has experience as a clinical research coordinator across many types of clinical trials and served as the clinical research manager for the Cincinnati program. She earned a bachelor’s degree in psychology, a master’s, and is a SOCRA certified clinical research professional (CCRP). She enjoys time with family and friends, a great book, a strong cup of coffee and, of course, a good laugh!