JUNE 3—DAY 1: the Who, What, and When

DRAFT Agenda as of 5/17/2021

JUNE 3—DAY 1: The Who, What, and When

12:00 noon Welcome Remarks Joni L. Rutter, Ph.D., Acting Director, National Center for Advancing Translational Science (NCATS), National Institutes of Health (NIH)

12:10 p.m. Day 1 Overview Robert Green, M.D., MPH, Professor of Medicine, Harvard Tippi MacKenzie, M.D., Professor of Surgery, University of California, San Francisco

12:20 p.m. Gene-Targeted Therapies for All Who Need Them: Tremendous Opportunities, Tremendous Challenges Christopher P. Austin, M.D., CEO-Partner, Flagship Pioneering

12:40 p.m. Milasen: The First Truly Individualized Medicine and Its Impact on the Future of Drug Development Julia Vitarello, Mila's mom & Founder and CEO, Mila's Miracle Foundation

1:00 p.m. Current State of Treatments This session will give an overview of three gene-targeted therapeutic platforms: gene therapy, oligonucleotide therapy, and somatic genome editing Moderator: Philip John (P.J.) Brooks, Ph.D., Program Director, Office of Rare Diseases Research (ORDR), NCATS, NIH Panelists: • James Wilson M.D., Ph.D., Director, Gene Therapy Program, University of Pennsylvania’s Perelman School of Medicine • Timothy Yu, M.D., Ph.D., Neurogeneticist, Boston Children’s Hospital and Harvard Medical School • David R. Liu, Ph.D., Director, Merkin Institute of Transformative Technologies in Healthcare

1:45 p.m. Break

2:00 p.m. Working Group 1: The Who, What and When - Presentations and Discussion Introductions • Melissa Wasserstein, M.D., Professor of Pediatrics and Genetics, Albert Einstein College of Medicine • Priya Kishnani, M.D., MBBS, Chief, Medical Genetics Division, Duke University Medical Center (DUMC) Presentations and Discussion

Gene-Targeted Therapies—Agenda

4:15 p.m. Closing Remarks • Huda Zoghbi, M.D., Investigator, Howard Hughes Medical Institute • Steven Gray, Ph.D., Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical Center 4:30 p.m. Adjourn

JUNE 10—DAY 2: Infrastructure and Mechanics

12:00 noon Welcome Remarks Walter Koroshetz, M.D., Director, National Institute of Neurological Disorders and Stroke, NIH

12:10 p.m. Day 2 Overview Robert Green, M.D., MPH, Professor of Medicine, Harvard Tippi MacKenzie, M.D., Professor of Surgery, University of California, San Francisco

12:20 p.m. Current State of Patient Identification This session will provide an overview of several current pathways through which individuals with rare genetic disorders are being identified.

Moderator: Tiina K. Urv, Ph.D., Program Director, ORDR, NCATS, NIH Panelists: • Teresa Sparks, M.D., Perinatologist, University of California, San Francisco • Don Bailey, Ph.D., Director, Center for Newborn Screening, Ethics, and Disability Studies, RTI International • Stephen Kingsmore, MBChB, BAO, B.Sc., D.Sc., President and CEO, Rady Children’s Institute for Genomic Medicine (RCIGM) • Robert Green, M.D., MPH, Professor of Medicine, Harvard

1:20 p.m. Patient Story • Stephen Kingsmore, MBChB, BAO, B.Sc., D.Sc., President and CEO, RCIGM • Christina Kettler, Mother of Fitz Kettler • Daniel Kettler, Father of Fitz Kettler • Fitz Kettler, Genomic Trailblazer, Gene Therapy Clinical Trial Participant

1:40 p.m. Break

2:00 p.m. Working Group 2: Infrastructure and Mechanics - Presentations and Discussion

4:15 p.m. Closing Remarks Tom Defay, Ph.D., Deputy Head, Diagnostics Strategy and Operations, Alexion Pharmaceuticals, Inc.

4:30 p.m. Adjourn

JUNE 17—DAY 3: Regulatory and Equitable Access

12:00 noon Welcome Remarks Diana Bianchi, Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH

12:10 p.m. Day 3 Overview Robert Green, M.D., MPH, Professor of Medicine, Harvard Tippi MacKenzie, M.D., Professor of Surgery, University of California, San Francisco

12:20 p.m. Plenary Talk R. Alta Charo, J.D., Professor of Law and Bioethics, University of Wisconsin at Madison

12:40 p.m. Regulatory talk Peter Marks, M.D., Ph.D., Director, Center for Biologics Evaluation and Research (CBER), Food and Drug Administration (FDA)

12:55 p.m. Equity talk Vence Bonham, J.D., Senior Advisor to the NHGRI Director on Genomics and Health Disparities, National Human Genome Research Institute (NHGRI), NIH

1:15 p.m. Patient Story Maria Kefalas, Ph.D., Author, Advocate, and Philanthropist, The Calliope Joy Foundation and Cure MLD

1:30 p.m. (England’s Program) Professor Sir Mark Caulfield, MD, FRCP, FESC, FPharm, FBHS, FMedSci, Chief Scientist, Genomics England

1:45 p.m. Break

2:00 p.m. Working Group 3: Regulatory and Equitable Access - Presentations and Discussion

4:15 p.m. Closing Remarks Robert Green, M.D., MPH, Professor of Medicine, Harvard Tippi MacKenzie, M.D., Professor of Surgery, University of California, San Francisco

4:30 p.m. Adjourn