Florida Institute for Pediatric Rare Diseases - FSU

🧬 Welcome Dr. Ashley Cannon to the Florida Institute for Pediatric Rare Diseases (IPRD)

IPRD is pleased to welcome Ashley Cannon, PhD, MS, CGC, as the inaugural Director of the IPRD Master’s Program in Genetic Counseling.

Dr. Cannon is a clinician–scientist and certified genetic counselor with more than 20 years of experience in molecular genetics and leadership in genetic counseling, clinical genomics and precision medicine programs. Her career spans clinical care, translational research and large-scale genomics initiatives, including roles at the University of Alabama at Birmingham and InformedDNA. She has authored more than 40 scientific publications and was recognized as a Francis S. Collins Scholar for her leadership in neurogenetics research and clinical care.

At IPRD, Dr. Cannon will lead development of FSU’s new Master’s Program in Genetic Counseling, launching in Fall 2027. The program will help address the national shortage of genetic counselors while strengthening Florida’s capacity to deliver high-quality genomic medicine for patients and families.

David H. Ledbetter, PhD, FACMG, Senior Associate Director of IPRD, who helped recruit Dr. Cannon to the institute, noted: “We are thrilled to attract someone with Dr. Cannon’s experience and stature in the fields of human genetics and genetic counseling to lead our new Master’s degree program. She will help us attract outstanding students and additional faculty to our rapidly growing clinical genomics program.”

“Dr. Cannon brings a rare combination of scientific depth, clinical expertise and program leadership,” said Pradeep Bhide, Ph.D., Director of IPRD. “We are delighted to welcome her to IPRD and look forward to her leadership in training the next generation of genetic counselors."

Please join us in welcoming Dr. Cannon to the IPRD community. ✨

Florida Leads the Nation in Protecting Genetic Privacy 🧬📜
A recent commentary in Science highlights a critical issue: while federal law protects against genetic discrimination in health insurance, gaps remain. States like Florida are leading the way with stronger protections for life, long-term care, and disability coverage.

🧑‍👩‍👧‍👦 Key Insights:
These safeguards are essential as genomic medicine advances, allowing families to participate in testing and research without fear of discrimination. At the Florida Institute for Pediatric Rare Diseases (IPRD), we’re building a genome-first approach to rare disease care, including the upcoming Sunshine Genetics newborn genome sequencing pilot to identify serious conditions earlier in life.

💡 Why it matters:
• Earlier diagnosis shortens the diagnostic odyssey
• Precision treatments start sooner
• Families access life-saving care and research with confidence
Florida’s leadership in both genomic medicine and privacy protections makes it a national model, and IPRD is proud to be part of that effort.

👉 Read the full article:

Genetic information in insurance: Guiding questions for state regulation Many legislative efforts do not adequately address public concerns of genetic discrimination in insurance

✨ IPRD Commemorates Rare Disease Day 2026 with National Leaders in Genomics

On Feb. 27, the Florida Institute for Pediatric Rare Diseases (IPRD) convened national leaders in genomics, diagnostics, and academic medicine to spotlight Florida’s growing leadership in precision public health. Explore our full Rare Disease Day 2026 coverage and highlights: https://iprd.med.fsu.edu/rare-disease-day-2026/

🌍 Why it matters:
30M Americans and 300M people worldwide live with a rare disease. For many families, diagnosis takes years. Clinical whole genome sequencing is helping shorten and ultimately end this diagnostic odyssey.

🎤 Highlights included:
• Keynote by Eric Green, M.D., Ph.D., Chief Medical Officer of Illumina, Inc.
• Roundtable moderated by David H. Ledbetter, Ph.D., FACMG
• Discussion of Florida’s groundbreaking Sunshine Genetics Act, championed by State Representative Adam Anderson.

🧬 A major milestone: Launch of the IPRD Diagnostic Laboratory in partnership with Quest Diagnostics and supported by Illumina Laboratory Services, expanding access to clinical whole genome sequencing and expert interpretation across Florida.

🎓 Florida State University President Richard McCullough shared his vision to position FSU as a national leader in genomics and introduced Ashley Cannon, director of IPRD’s new genetic counseling master’s program launching Fall 2027.

🔬 The day concluded with a research poster session and a family roundtable, reinforcing IPRD’s commitment to discovery, diagnosis, and partnership with the families we serve.

💙 The future of rare disease care is defined by delivering families answers faster.

FSU College of Medicine FSU Health Florida State University Division of Research

Rare Disease Day – Feb. 27 marks the official launch of the FSU IPRD Diagnostic Lab, in partnership with Quest Diagnostics, a global leader in diagnostic services.

⚡ The lab delivers fast, accurate results that advance patient care worldwide 🌍 and strengthens Florida’s precision medicine infrastructure 🧬 through cutting-edge whole genome and exome sequencing.

Together, we’re expanding the frontier of rare disease research and care. 🤝

FSU College of Medicine FSU Health Florida State University Division of Research

🎤 Join us on Feb. 27 for a conversation on how advances in genomics are transforming healthcare and redefining what’s possible for the rare disease community.

Guiding that conversation is our distinguished keynote speaker, Dr. Eric D. Green, M.D., Ph.D., presenting “From the Human Genome Project to the Realization of Genomic Medicine: A Scientific, Medical and Societal Journey.” 🧬

Dr. Green serves as Chief Medical Officer at Illumina, Inc., where he leads global efforts to advance the clinical application of genomics. For more than three decades, he shaped the field at the National Human Genome Research Institute, serving as director from 2009 to 2025, helping to position genomics as a cornerstone of modern medicine and public health. 🔬

FSU College of Medicine FSU Health Florida State University Division of Research

The Florida Institute for Pediatric Rare Diseases - FSU will host the 2026 Rare Disease Day symposium this Friday at the FSU College of Medicine to highlight advances in genomics, research and clinical care. With guest State Representative Adam Anderson and keynote address by Illumina, Inc. Chief Medical Officer Eric Green, M.D., Ph.D.

Read more ➡️ https://news.fsu.edu/news/health-medicine/2026/02/23/florida-institute-for-pediatric-rare-diseases-will-host-rare-disease-day-symposium-and-panel-discussion/

🌍 Rare Disease Day 2026
Join us on Friday, February 27 as we highlight how IPRD is advancing research to combat rare diseases impacting 30 million Americans through innovation and collaboration.

📧 Email: [email protected]
🅿️ Complimentary parking available in Spirit Way Parking Garage
FSU College of Medicine FSU Health Florida State University Division of Research

Congratulations to Janelle Stanton! 🎉
Stanton’s research has identified PSMC5 (https://www.genecards.org/cgi-bin/carddisp.pl?gene=PSMC5) as a critical gene underlying a newly defined syndromic neurodevelopmental disorder, revealing how disruptions in protein degradation lead to widespread effects on brain development, immunity, and metabolism.

Key Findings 🔬
• Variants in PSMC5 impair proteasome function, causing toxic protein aggregation and disrupted mitochondrial homeostasis
• Loss of PSMC5 results in neurodevelopmental abnormalities affecting learning and locomotion
• Proteasome dysfunction triggers mitochondrial injury and altered lipid metabolism

Why It Matters 🌟
These findings establish PSMC5 as an essential regulator of neurodevelopment and cellular homeostasis. By connecting proteasome dysfunction with neuronal impairment, metabolic disruption, and immune activation, the study clarifies disease mechanisms and highlights stress-response and immune-signaling pathways as promising therapeutic targets for rare neurodevelopmental disorders.

Learn More: https://www.nature.com/articles/s41467-025-65556-8

For American Heart Month, we’re spotlighting Stephen Chelko, Assistant Professor in the FSU College of Medicine, whose research focuses on arrhythmogenic cardiomyopathy (ACM), a rare inherited heart disease and leading cause of sudden cardiac death in young people. His work uncovers how genetic factors and cell signaling drive disease progression, opening doors for new ways to prevent fatal arrhythmias.

Learn more about his research by visiting Dr. Chelko’s lab at med.fsu.edu/biosci/chelko-lab.