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Summary of the Inaugural ReNU Hope Conference and Scientific Symposium, July 23-25, 2025, Long Island, New York
Kelsey Crocker1, Jillian O'Toole2, Lindsay Pearse3
1Division of Medical Genetics and Genomics, Northwell Health, New Hyde Park, NY and Northwell Health, Great Neck, New York, USA.
Abstract:
The inaugural ReNU Hope Conference and Scientific Symposium was held from July 23-25, 2025 in Long Island, New York. This historic conference brought together the researchers responsible for the groundbreaking discovery of RNU4-2/ReNU syndrome, families, scientists, clinicians, trainees, therapeutic developers, and industry leaders from around the world. The key themes that emerged included: (1) Early recognition and diagnosis of ReNU Syndrome, (2) optimizing clinical care for this complex condition, (3) the importance of the family experience, (4) a need to elucidate the underlying genetic mechanism, (5) a need for quality natural history data and validated endpoints, and (6) exploring approaches to therapeutic development. This summary provides a broad overview of the conference, highlights the key presentations and discussions, and delineates priorities moving forward.
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