The 2024 RJH Summer Scholar Presentations Are Now Live!

Project Summary:  Individuals with Fragile X-associated primary ovarian insufficiency (FXPOI) have reported needing to visit multiple providers and advocate for their own diagnosis and care because providers were unaware of Fragile X-associated disorders.  FXPOI is defined as irregular (i.e., cycling every 4-6 months) or cessation of menses before 40 (premature menopause) in females who carry an FMR1 premutation.  Prior research showed the average amount of time from symptom onset to FXPOI diagnosis was about one year.  Due to this provider gap in knowledge, further research was done to identify what these gaps in knowledge specifically are amongst women’s healthcare providers.  The study goal is to target these knowledge gaps through questions in a pre-test survey and assess if women’s healthcare provider knowledge of FXPOI is improved after reviewing the educational tool.  A post-test survey will be sent to the provider’s one month after reviewing the tool.  We will also look at whether demographics affect FXPOI knowledge and what general carrier screening practices and provider workups for primary ovarian insufficiency are.  The long-term goal would be for women’s healthcare providers to continue to refer to and share this educational tool to shorten the time to diagnosis for women with FXPOI and contribute to an improved quality of life and reproductive outcomes.

Project Summary:  We already know that where someone lives can have a big impact on their health.  Because women with the FMR1 premutation already have an increased risk of a variety of health issues due to genetic factors, it is important to also understand how one’s neighborhood can impact those health issues, for better or for worse.  This would help researchers and advocacy organizations know where to allocate their limited resources to have the greatest benefit on the health of women with the FMR1 premutation.

Project Summary:  Little is known about the changes in the brain that cause the major symptoms of FXTAS including problems with balance, walking, and memory. By using a non-invasive brain imaging cap, our team can measure activity in special areas of the brain that play roles in memory, attention, and the planning of movements. We ask participants to wear this brain imaging cap while performing activities that are affected by FXTAS such as walking under simple and more difficult conditions and completing a series of challenging cognitive tests. All study participants also have an MRI scan to take pictures of the brain, so that we can determine any connections between brain activation and structure. This research study is important because our findings will provide more information about how the disease develops and can assist with the development of effective treatments for FXTAS, which currently do not exist.

Project Summary:  Fragile X syndrome is the most common inherited cause of autism, with a mutation in the FMR1 gene that encodes for a critical RNA-binding protein FMRP. Genes in our body contain instructions from DNA to make proteins, which are essential for building cells in our bodies.  These cells, particularly neurons, form connections called synapses that allow them to communicate and create networks. Within these networks, proteins play a critical role in maintaining and shaping circuits in the brain. Neural circuits are a group of interconnected neurons that work together like a complex web of pathways, to process information and give rise to behavior.  For developing effective therapies for treating FXS, it is crucial to study how disruptions across levels of neuronal function (molecular, cellular, circuit) ultimately lead to abnormal processing of sensory information and social, communication alterations seen in FXS patients as well as FXS rodent models. Atypical sensory processing is a core feature of FXS and markedly elevated sensitivity to sound stimuli is the most prevalent and debilitating symptom of FXS. By studying how sound processing is altered in FXS rat models, we seek to determine if these changes stem from disruptions in protein synthesis, a crucial process for proper neuronal function. Increased synthesis of proteins is pathological in FXS and by understanding what these proteins are and why they are problematic, we can start to understand the factors impacting FXS such as underlying neural circuits. This summer project proposal will determine if auditory processing deficits in FXS are the result of cellular-molecular changes in the auditory system. Ultimately, our goal is to contribute to the development of therapies that can improve the lives of individuals and families affected by FXS.