Recent years have seen the research and care of rare neurological diseases evolve from diagnosis and comfort care into treatment and hope, driven by advancements in biological understanding of disease and therapeutic technologies. The St. Jude Pediatric Translational Neuroscience Initiative (PTNI) is uniquely positioned to translate this knowledge into impactful clinical outcomes for children with these conditions.
The 2025 St. Jude Pediatric Translational Neuroscience Symposium, hosted by PTNI April 8-9, 2025, will bring together leading experts in pediatric neuroscience to discuss topics critical to accelerating advancement in the field. This inaugural Symposium will tackle critical issues including gene discovery, movement from identification of genetic variants to development of therapeutic candidates, and considerations for gene therapy and translational research. Speakers and attendees, including researchers, clinicians, patient advocates, and industry partners, will come together in person and virtually to learn about, share, and guide advances in addressing rare pediatric neurological diseases.
The 2025 St. Jude Pediatric Translational Neuroscience Symposium is presented by the St. Jude Biomedical Research Symposium, an annual series typically exclusive to the St. Jude research community. This year we are happy to host this event in a hybrid format, giving the public an opportunity to participate virtually. We look forward to robust engagement with attendees from across the rare pediatric neurological disease community.
Session topics
A comprehensive agenda of speakers will cover topics including the nervous system and non-neuronal considerations; biomarkers, gene discovery, and clinical impact; clinical perspectives on the development of gene therapy for rare diseases; and patient considerations following gene therapy. Speakers and agenda to come.
Session topics will include:
- Gene Discovery – What’s Next?
- From Genetic Variant to Therapeutic Candidates
- From Lead Candidate to Dosing the Patient
- Pre and Post Gene Therapy Considerations
- Unique Considerations in Translational Research for Ultrarare Diseases
- Beyond the Science: Ethical, Economic, and Equitable Access Considerations
2025 Keynote Speaker
Huda Zoghbi, MD, is a Distinguished Service Professor at Baylor College of Medicine, a Howard Hughes Medical Institute (HHMI) Investigator, and founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
Dr. Zoghbi graduated from the American University of Beirut and received her medical degree from Meharry Medical College. She completed pediatrics and neurology residencies and postdoctoral research training in molecular genetics at Baylor College of Medicine.
Dr. Zoghbi’s expertise ranges from neurodevelopment to neurodegeneration. She and Dr. Harry Orr discovered that spinocerebellar ataxia type 1 (SCA1) is caused by expansion of a polyglutamine tract. Their mechanistic studies on SCA1 inspired her work on common neurodegenerative diseases such as Alzheimer’s disease and Parkinson’s disease. She discovered that mutations in MECP2 cause Rett syndrome, characterized the molecular and circuit pathogenic mechanisms in Rett, and highlighted the importance of MeCP2 levels for normal brain function. Her group also discovered Math1/Atoh1 and showed that it governs the development of several components of the proprioceptive, balance, hearing, vestibular, and breathing pathways.
Dr. Zoghbi has trained more than 115 scientists and physician-scientists and has served on the National Academy of Medicine (NAM) Council, the National Institutes of Health (NIH) National Advisory Neurological Disorders and Stroke (NINDS) Council, and numerous scientific advisory boards. She has been elected to the National Academy of Medicine, the National Academy of Sciences, and the American Academy of Arts and Sciences.
Dr. Zoghbi’s honors include the Breakthrough Prize in Life Sciences, the National Academy of Sciences Jessie Stevenson Kovalenko Medal, the Lundbeck Foundation’s Brain Prize, and the Kavli Foundation’s Kavli Prize.
About the St. Jude Pediatric Translational Neuroscience Initiative (PTNI)
St. Jude Children’s Research Hospital is committed to transforming the treatment landscape for children living with catastrophic pediatric neurological disorders through its Pediatric Translational Neuroscience Initiative (PTNI). Launched in 2020, PTNI serves as a formalized mechanism for translational neuroscience that extends from fundamental bench science to experimental neurotherapeutics with an emphasis on working closely with stakeholders across multiple sectors, including other researchers and institutions, patient and community groups, industry, and policymakers.
Through collaborations and thought partnership, PTNI engages thought leaders to identify promising paths forward in the pediatric neuroscience space, convening scientists, clinicians, patient advocates, and others to address the unmet needs of children with these disorders.