The Olivia’s Light Pediatric Rare Disease Conference

The Olivia’s Light Pediatric Rare Disease Conference is organized by University of Virginia (UVA) School of Medicine and will be held from Jun 09 - 10, 2025 at UVA Department of Student Health and Wellness, Charlottesville, Virginia, United States of America.

Description:
The Olivia’s Light Pediatric Rare Disease Conference aims to improve patient care for children and families impacted by a rare disease. The conference will highlight different aspects of the rare disease journey, with an emphasis on rapid broad genetic testing, particularly whole exome and whole genome sequencing. The conference will also highlight other components of patient care, including, early recognition of genetic conditions, a novel pathway to access broad genetic testing, ethical considerations and communication strategies in consultation, facilitating shared decision-making, community outreach and education, as well as, a look into the gaps and needs of patients and families.

What sets this conference apart is its focus on the often-underrepresented voices of children and families affected by a rare disease. Furthermore, the two-day event will provide a collaborative and interactive experience between leading experts in pediatrics, parents and industry professionals. This will create a welcoming environment for sharing insights and experiences. Olivia’s Light Pediatric Rare Disease Conference seeks to significantly impact the future of pediatric healthcare.

Objectives:
At the conclusion of this activity, learners will be able to:

• Describe the diagnostic odyssey for families of children with undiagnosed genetic conditions.
• Describe the evidence for the need of rapid genetic testing in acute setting.
• Identify the impact of rapid testing on patient care: where both positive and negative results matter.
• Identify a novel pathway to access whole exome sequencing
• Identify key prenatal phenotypes and neonatal presentations that may indicate underlying genetic disorders.
• Apply comprehensive imaging techniques to characterize phenotypes and achieve early diagnosis of genetic conditions.
• Implement shared decision-making from multiple lenses: contrasting parent and provider perspectives
• Define ethical considerations related to prenatal/neonatal consultations
• Describe the development of a novel clinical telehealth model providing behavioral interventions and caregiver training for individuals with fragile X syndrome (FXS)
• Identify current drug approvals for rare pediatric genetic diseases
• Describe emerging treatment options for rare disease including gene therapies, enzyme replacement therapies for rare neurogenetic disorders