The Research
Dr. Webb's Research on POU4F1
Dr. Bryn D. Webb, along with collaborators, has published a pivotal study titled "Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor" in Human Mutation (2021). This research identifies a novel genetic cause of ataxia syndrome, highlighting the role of POU4F1 gene haploinsufficiency in the development of neurological symptoms.
To read the study, click HERE.
Patient Registry and Natural History Study
Natural history studies are important to understand the typical course of the disease in the absence of treatment, which is essential for designing and evaluating clinical trials.
The POU4F1 registry was recreated in REDCap (Research Electronic Data Capture). REDCap is a secure web-based platform built by academic institutions and used worldwide. REDCap allows us to collect surveys, medical information, and videos safely and effectively.
Supporting Research
Dedicated to advancing scientific knowledge in the field of disease research, POU4F1 Foundation, Inc. is committed to funding innovative projects that have the potential to make a significant impact on the lives of those affected by various illnesses. Our team of researchers and scientists work tirelessly to uncover new findings.
How can you help?
By supporting our foundation, you are contributing to the future of healthcare and helping us bring hope to patients worldwide. Join us in our mission to transform the landscape of disease research by subscribing to our Newsletter or making a donation.
