Florida Institute for Pediatric Rare Diseases - FSU

07/21/2026

A recent article from The Scientist highlights promising research into a potential gene therapy for fragile X syndrome, a rare inherited genetic condition caused by changes in the FMR1 gene. It is the most common inherited cause of intellectual disability and autism, and can affect learning, behavior, speech, and social development.

In a preclinical mouse study, researchers used an adeno-associated virus (AAV)-based therapy to restore production of the FMRP protein, leading to improvements in seizures, behavior, and brain activity.

While this research is still in the early stages and has not yet been tested in people, the findings add to growing evidence that gene therapy could one day help treat rare genetic diseases by addressing their underlying genetic cause. Continued advances in genomics, viral vector technology, and gene delivery are bringing researchers closer to developing more targeted treatment options for individuals and families affected by rare diseases.

Learn more about this story: https://www.the-scientist.com/gene-therapy-reverses-fragile-x-deficits-in-mouse-study-74760?utm_campaign=38834271-TS_News%20Alerts_2026&utm_medium=email&_hsenc=p2ANqtz-_I2OVNtPVldC_T33OvtpG4jKWqaLFl-FM2wc2fHrWHCy9_QNzo0p4PrUuy13iw5BSQcSq2ozZYV0lv0WwS8xTeQFvhug&_hsmi=429370667&utm_content=429370667&utm_source=hs_email&fbclid=IwY2xjawTNlQVleHRuA2FlbQIxMABicmlkETFNSG9xV3NCOXdyZm1QQlh3c3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHnnQZcdFVjJayRt3sqVnO0h0_w38EPgaIgE6Vdj06rPX40c1LXg-jG7vqE0v_aem_KdtZwcV7iwFm9gZ16o8fCQ

The Florida Institute for Pediatric Rare Diseases (IPRD) is proud to support research on fragile X syndrome in the laboratories of Yuan Wang and Deirdre Mc Carthy (IPRD Assistant Director). In addition, IPRD Viral Vector and Gene Editing Core supports the development of next-generation gene therapies by providing researchers with expertise in viral vector design, production, and gene editing technologies. By supporting research and strengthening the infrastructure needed to advance precision medicine, we are helping accelerate discoveries that could improve the lives of children and families affected by rare diseases.

Learn more about the IPRD Viral Vector and Gene Editing Core: https://iprd.med.fsu.edu/viral-vector-core/

A new AAV-based gene therapy successfully improved seizures, behavior, and brain activity in fragile X syndrome mice, paving the way for clinical development.

07/20/2026

On July 14, FSU College of Medicine welcomed the inaugural cohort of the FSU Visiting Scholars Partnership Program (VSPP), bringing together distinguished scientists from the Indian Institutes of Technology and the Indian Institute of Science.

The Florida Institute for Pediatric Rare Diseases was honored to participate in this exciting day of scientific exchange. IPRD Director Pradeep Bhide, Senior Associate Director for Precision Medicine David H. Ledbetter, PhD, FACMG, and Associate Director for Genomics Cynthia Vied, showcased the Institute's programs and explored opportunities for international collaboration in artificial intelligence, precision medicine, biomedical imaging, digital health, genomics, and other emerging technologies that have the potential to transform the diagnosis and treatment of rare diseases.

The event highlighted the growing opportunities for interdisciplinary collaboration at the intersection of engineering, technology, and medicine, while strengthening global partnerships that will advance research, innovation, education, and patient care.

Thank you to Nidish Narayanaa Balaji, Suddhasatwa Basu FNA, FNASc, FNAE, FRSC (UK), FIE, Debopam Das, Prosenjit Das, Tufan Kumar Guha, (PhD), Namrata Gundiah, Bhaskar Kanseri, Amit Mehndiratta, and Mohammed Ibrahim Sugarno for visiting and sharing your expertise. We look forward to future collaborations that drive innovation and improve outcomes for children with rare diseases.

07/16/2026

06/16/2026

For decades, newborn screening has relied on a heel-prick blood test that identifies a limited number of serious conditions shortly after birth. While every state's program differs, Florida currently screens for 60 serious conditions and diseases at birth.

06/12/2026

We recently partnered with the A.J. Anderson Foundation to host our inaugural event, bringing together over 200 families, researchers, and advocates for a transformative Rare Disease Symposium featuring insightful updates on genomic newborn screening and advances in gene therapy.

This landmark gathering marked the beginning of a long-term collaboration dedicated to elevating voices, accelerating research, and improving outcomes for children and families affected by rare diseases.

Click the link to read the full coverage of this incredible event: https://iprd.med.fsu.edu/2026-rare-disease-symposium/

06/08/2026

06/05/2026

Conference brings together researchers, clinicians, industry leaders and families to discuss advances in genomic screening and gene therapy For families