Antisense Oligonucleotide Rescue of CGG Expansion–Dependent FMR1 Mis-Splicing in Fragile X Syndrome Restores FMRP
One of the most exciting advancements being done in Fragile XS research today is antisense oligonucleotide (ASO) therapy.
One of the most exciting advancements being done in Fragile XS research today is antisense oligonucleotide (ASO) therapy.
Researchers at the University of Wisconsin explored the relationship between obtaining a college degree and the manifestation of the neurodegenerative symptoms of FXTAS among women at elevated genetic risk.
Researchers across several institutions set out to develop a revised version of the FXTAS-RS designed to specifically assess FXTAS motor signs.
Researchers at the University of Wisconsin looked at the relationship and influence of FMR1 CGG repeats and stress on self-reported cognitive functioning in mothers.
Researchers at Emory University conducted qualitative interviews with 24 women with FXPOI exploring how FMR1 screening, physician education, and supportive care impacted their experience receiving a diagnosis. Their results are in!
The pandemic caused by the spread of the coronavirus disease (COVID-19), beginning in early 2020, had an impact beyond anything experienced in recent history. It is important to understand how this pandemic era has impacted school-aged children with FXS so that we may continue to successfully navigate the changes that come with living through a pandemic and to understand what we can improve in the case of a future pandemic.
Given the limited data regarding future planning specific to individuals with Fragile X Syndrome (FXS) and the growing population of this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans.
This study showed the significant impact that behavioral treatments can have on rates of challenging behaviors commonly exhibited by boys with FXS, particularly when parents are coached to implement the intervention with their child via telehealth.
Some caregivers and parents of individuals with FXS have given CBD supplements to the individuals they care for and learning about their insights and experiences is important. This was the first study to learn more about their observations and opinions regarding CBD to treat FXS.
Most individuals with FXS cannot state themselves that they are anxious and self-report is needed in current standardized assessments. The information analyzed in this study will result in the development of a measure where observable and quantifiable data on anxiety in those with FXS can become an outcome measure to be used in future research/trials.
This is the first time that Fragile X premutation carriers have been tracked in a longitudinal study. This study provides evidence for early markers of FXTAS that may be helpful in eventually identifying the best candidates for early, preventive intervention.
The first published publication from the International Fragile X Premutation Registry Advisory Committee. This International Fragile X Premutation Registry is an important first step and can serve as a useful tool for clinicians and researchers in the field.
Thanks to The European Fragile X Network, FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular.
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.