Thursday, July 24th, 2025: Long Island Marriott

6:30 am - 8:30 pm: ☀️ SUNRISE SOCIAL BREAKFAST: Grand Ballroom | 8:00 AM: ReNU Warrior/Sibling Superhero Drop-Off: Lighthouse Room | Childcare Supervision Assistance

8:30 am - 8:55 am: 🧬 Welcome and Introduction to the Inaugural ReNU Hope Family Conference

8:30 - 8:50: Welcome on behalf of ReNU Syndrome United | Jessica Margrill, President, ReNU Syndrome United

8:50 - 8:55: Welcome from Ian Krantz, MD, Division Chief of Pediatric Genetics, Cohen Children’s Medical Center, System Vice President of Pediatric Genetics, Northwell Health

8:55 am - 9:10 am Bridging Medicine and Media: Communicating Rare Diseases with Purpose and Impact | David Langer, MD, Chair of Neurosurgery, Lenox Hill Hospital, Vice President of Neurosurgery, Northwell Health

9:10 am - 10:20 am: From Mystery to Meaning: Ending the Diagnostic Odyssey | The Groundbreaking Discovery & Current Understanding of ReNU Syndrome

9:10 ReNU Diagnosis Video & Introduction: Lindsay Pearse, Vice President, ReNU Syndrome United

9:20 - 9:35 (15 mins) Ernest Turro, PhD, Associate Professor, Mount Sinai: “How Advances in Genetics & Health Systems Enabled the Discovery of ReNU Syndrome”

9:35 - 9:45 (10 mins) Yuyang Chen, PhD Candidate, Big Data Institute, University of Oxford: “The Discovery of RNU4-2”

9:45 - 9:55 (10 mins) Daniel Greene, PhD, Assistant Professor, Mount Sinai: “The Discovery of RNU4-2”

9:55 - 10:10 (15 mins) Nicky Whiffin, PhD, Associate Professor, Big Data Institute, University of Oxford: “Next Steps: Further Understanding ReNU Syndrome”

10:10 - 10:20 (10 mins) Audience Q&A

10:20 am - 10:35 am: BREAK

10:35 am 11:50 am: Insights into ReNU | Science, Symptoms, & the Future of Clinical Care

10:35 - 10:40 (5 mins) Introduction: Kim Salazar, MD, Secretary, ReNU Syndrome United

10:40 - 10:55 (15 mins): Scott Perry, MD, Head of Neurosciences, Cook Children’s Hospital | “The Role of Epilepsy in ReNU & Epilepsy Management Research”

10:55 - 11:10 (15 mins): Irene Valenzuela, MD, Clinical Geneticist, Hospital Vall d’Hebron | “Osteoporosis & the Bone Health of ReNU Patients”

11:10 - 11:25 (15 mins): Maya Chopra, MBBS, FRACP, Director, Translational Genomic Medicine & Clinical Geneticist, Boston Children’s Hospital | “The Building Blocks of Clinical Trials & the Importance of Participation in Natural History Studies & Registries”

11:25 - 11:40 (15 mins): Seth I. Berger, MD, PhD, Clinical Geneticist, Children’s National Medical Center & Translational Genomics Director for Rare Disease, Ambry Genetics | “Advancing Diagnostics for ReNU Syndrome

11:40 - 11:50 (10 mins): Audience Q&A

11:50 am - 12:05 pm: Unique Guide to ReNU Syndrome & Sibling Superheroes | Introduction: Heather Margrill, Director, ReNU Syndrome United

11:52 - 12:00 (8 mins) Anna Pelling, BSc, PhD, Sr. Communications Officer, Unique

12:00 - 12:05 ReNU Siblings Read Story, Video, and Recognition Moment

12:05 pm - 1:40 pm: 🍽️ LUNCH | Morning Wrap-Up & Introduction to Resources - Lauren Schwarze, Treasurer, ReNU Syndrome United

🔬 Research Row 🔬

Northwell Health - Survey

Halgrímsson Lab, University of Calgary - FaceGene - AI Facial Recognition

GestaltMatcher - AI Facial Recognition

Mount Sinai - INDEED Research Study Investigating ReNU

Sampled - Biorepository, blood sample kits, Stanford study

📋 ReNU Resources 📋

Jessica Thompson, MA, SEIT - Special Education

James Campo, DPT, CSCS - Physical Therapy

Maria Parrino, MS, CCC-SLP, TSSLD - Speech & Language / Augmentative & Alternative Communication (AAC)

Pamela J. Carlton, MS, MT-BC - Music Therapy

Lauren Merrill Budd, MS SLP - Speech & Language / Feeding Specialist

John Yrungaray, MBA & Migan Orton Lightfoot, BSN, MSCN, CRNI - MOOG Medical, Feeding Pump Demonstration and Q&A

🎙️ ReNU Media Opportunities 🎙️ - Documentary, Photography, Podcast

1:40 pm - 2:25 pm: Shared Journeys, Enduring Hope: ReNU Family Voices & Perspectives, Moderator: Heather Kainz, Director, ReNU Syndrome United

Panelists: Kathy Liu (mom to Eleanor, age 4), Lisa Osborne (mom to Cooper, age 15), John Cooper (dad to James, age 12), Jessica Eddings (mom to Isla, age 5)

2:25 pm - 3:35 pm: The Road Ahead, Navigating the Emerging Therapeutic Landscape for ReNU Syndrome | Introduction: Kim Salazar, MD, Secretary, ReNU Syndrome United

2:25 - 2:40 (15 mins) John Rinn, PhD, Leslie Orgel Professor of RNA Science, Biofrontiers Institute, University of Colorado “Overview of the Emerging Therapeutic Landscape”

2:40 - 3:20 (40 mins) Martin McDonough, Introduction to n-Lorem

Stanley T. Crooke, MD, PhD, Founder & CEO, n-Lorem Foundation “An Overview of the n-Lorem Foundation”

Konstantina Skourti-Stathaki, PhD, Sr. Director of Discovery & Research, n-Lorem Foundation “Update on ReNU Syndrome Therapeutic Research Efforts”

3:20 - 3:30 (10 mins) Jeff Milton, Executive Fellow, St. Jude’s Children’s Research Hospital & CTO, La Jolla Labs “Building Effective Strategies for Rare Disease Treatments”

3:35 Close out session | Kim Salazar, MD

3:35 pm - 3:50 pm: BREAK

3:50 pm - 4:15 pm: ReNU Syndrome United | Join the Advocacy Journey

What We Working Towards at ReNU Syndrome United & Our Hope for the Future | Lindsay Pearse, Vice President, ReNU Syndrome United

Rachel Johnson, Head of Fundraising & Awareness Committee, ReNU Syndrome United

Sarah Warwick, Head of Global Coordination Committee & Head of ReNU Syndrome United Australia

(3 mins) Closing Video

(2 mins) Final Thank You & Acknowledgements

4:15 pm - 6:00 pm: FREE TIME

6:00 pm - 8:00 pm: ReNU Hope Dinner & Award Celebration