Recorded Sessions Available for On-Demand ReplayThe virtual ADVANCE 2022, Sanfilippo Community Conference, July 7-8, 2022, brought together families and caregivers, scientists and researchers, clinicians and therapists, advocates, biotechs, and supporters. All to engage and advance the work to help children with Sanfilippo Syndrome. Hosted by Cure Sanfilippo Foundation, ADVANCE featured high-level collaboration, information sharing, and Sanfilippo-specific learning sessions. Topics included the role of inflammation and the immune system in Sanfilippo, new treatment approaches, Sanfilippo subtype-specific sessions, ABA and Sanfilippo, and much more. ADVANCE 2022 recordings of the two days of sessions are available below. Each video’s description details the sessions, the speakers, and the recording times for each session.
ADVANCE 2022 Recordings
Day 1 – Part 1Welcome and Opening (8:18 – 18:20) | Glenn and Cara O’Neill [Co-Founders and President and Chief Science Officer, respectively, Cure Sanfilippo Foundation | Parents of Child with Sanfilippo Type A] “Research Happening Now” Session (Part 1) Targeting Heparan Sulfate (19:55 – 1:26:50) | Luigi Pavone [Professor Biochemistry, Molecular Medicine, and Medical Biotechnology at University of Naples Federico II]; Karl Johe [Chief Executive Officer of ReMotorTherapeutics]; Diego Medina [Cell Biology and Disease Mechanisms at Telethon Institute of Genetics and Medicine (TIGEM)]; and Antonella Capuozzo and Giancarlo Parenti [Telethon Institute of Genetics and Medicine (TIGEM)] joined for Q&A Dopamine, Autism, and Applied Behavior Analysis (ABA) in Sanfilippo [1:26:51 – 2:16:06) | Elvria DeLeonibus [Group Leader, Neurogenetics, at Telethon Institute of Genetics and Medicine (TIGEM)] (partial recording available); and Suzanne Moore [Clinical Director at Bardin Behavioral Health] Connecting Life & Science: Sanfilippo Type C (2:16:10 – 3:06:28) | Christi Ormeroid, Cybill Aros-Pearson, and Marisa DiChiacchio [parents of children with Sanfilippo Type C]; Lauren Dengle [Assistant Professor, Pediatrics and Neurology & Neurotherapeutics at UT Southwestern]; and Rafael Badell-Graum [Post Doctoral Fellow, BioMedical Research Facility, at University of California, San Diego] Lunch & Learn: Advancing Newborn Screening (3:06:31 – 3:32:06) | Matthew Ellinwood [Chief Scientific Officer for National MPS Society]; and Melissa Wasserstein [Professor of Pediatrics and Genetic Medicine at Albert Einstein School of Medicine]
Day 1 – Part 2“Moving Towards the Clinic” (Advancing Translational Programs) Session – Part 1 (0:25 – 57:35) | Ami Kamitani [International Project Unit at JCR Pharmaceuticals]; Haiyan Fu [Associate Professor, Gene Therapy Center, at University of North Carolina School of Medicine]; and Elizabeth Jalazo [Assistant Professor Genetics & Metabolism at University of North Carolina]; Srikanth Singamsetty [Scientific Director of Phoenix Nest]; joined by Mathias Schmidt [President and CEO of JCR USA] for Q&A Resources and support available through Courageous Parents Network to help you find your way (1:00:35 – 1:25:52) | Jennifer Siedman [Director of Family Engagement at Courageous Parents Network | Parent of Child with Sanfilippo Type B] Updates on Active Clinical Trials (Part 1) (1:30:10 – 2:35:40) | Mercé Pineda [Senior Neuropaediatrics Consultant at SJD Barcelona Children’s Hospital]; Thomas Mathers [Founder, President and CEO of Allievex Corporation]; and Emil Kakkis [Founder, President and Chief Executive Officer of Ultragenyx]
Day 1 – Part 3Roundtable: Sanfilippo Awareness on TikTok (0:05 – 25:27) | Noelle Pacl [Parent of Child with Sanfilippo Type A | TikTok Creator, @Love_Logan07]; and Jennifer Sarkar [Parent of Child with Sanfilippo Type A | TikTok Creator, @IAmMrsNesbitt] Roundtable: Fundraising, Empowerment, and Community (31:00 – 1:01:47) | Sara Burroughs [Parent of Child with Sanfilippo Type A]; and Jason and Theresa Wacker [Parent of Child with Sanfilippo Type A] Connecting Life & Science: Sanfilippo Type B (1:05:35 – 1:57:44) | Valerie Byers, Becky Jordan, and Julie Koch [Parents of Children with Sanfilippo Type B]; Elizabeth Jalazo [Assistant Professor Genetics & Metabolism at University of North Carolina]; and Michael Przybilla [Assistant Professor, Department of Pediatrics, at University of Minnesota] Day 1 Closing (1:57:45 – 1:58:47) | Glenn O’Neill [Co-Founder and President Cure Sanfilippo Foundation | Parent of Child with Sanfilippo Type A]
Day 2 – Part 1Deep Dive: Inflammation, the Immune System, and Sanfilippo Syndrome (7:30 – 1:32:26) | Brian Bigger [Professor of Cell and Gene Therapy, The University of Manchester]; Michelina Iacovino [Asst. Professor of Pediatrics, Medical Genetics, at Univ. of California-LA & The Lundquist Institute]; Oriana Mandolfo [Researcher and PhD Candidate at The University of Manchester]; and Neta Shlezinger [Assistant Professor at The Hebrew University of Jerusalem] Connecting Life & Science: Sanfilippo Type A (1:32:27 – 2:31:04 | Elise Esposito, Wendy Ferguson, and Jenn Fuller [Parents of Children with Sanfilippo Type A]; Lisa Emrick [Asst. Professor, Pediatrics, Neurology and Developmental Neuroscience, at Baylor College of Medicine]; and Tierra Bobo [Post Doctoral Researcher, Gene Therapy Center, at UNC School of Medicine]
Day 2 – Part 2How Global Clinical Management Guidelines will help ensure the best care for children with Sanfilippo (2:06 – 20:47) | Cara O’Neill [Chief Science Officer, Cure Sanfilippo Foundation | Parent of Child with Sanfilippo Type A]; and Joseph Muenzer, MD, PhD [Professor, Pediatric Genetics and Metabolism, University of North Carolina School of Medicine] “Research Happening Now” Session (Part 2): Targeting alternate disease mechanisms and secondary storage in Sanfilippo (21:55 – 46:22) | Alessandro Fraldi [Associate Professor, University of Naples, Federico II, and Principal Investigator at CEINGE]; and Alexey Pshezhetsky [Professor of Pediatrics and Biochemistry at Montreal University] (recording not available for his presentation) Funding opportunities for research into Sanfilippo (46:57 – 1:13:12) | Jill Morris [Health Scientist Administrator, Division of Neuroscience, at National Institutes of Health]; and Cara O’Neill [Co-Founder and Chief Science Officer, Cure Sanfilippo Foundation | Parent of Child with Sanfilippo Type A] “Moving Towards the Clinic” (Advancing Translational Programs) Session – Part 2 (1:16:48 – 1:53:43) | Anna Bakardjiev [Executive Director, Development, at Denali Therapeutics]; and Tsui-Fen Chou [Research Professor of Biology and Biological Engineering at CalTech] and Jill Wood [CEO & Co-Founder Phoenix Nest Inc. | Parent of Child with Sanfilippo Type C]
Day 2 – Part 3How to Participate in the Science Beyond Treatment Trials (0:10 – 37:22) | Cara O’Neill [Co-Founder and Chief Science Officer, Cure Sanfilippo Foundation]; and Thomas Blanchard [Director, University of Maryland Brain and Tissue Bank] Updates on Active Clinical Trials (Part 2) (40:24 – 1:21:34) | Lynda Polgreen [Assoc. Prof. of Pediatrics at Geffen School of Medicine, UCLA, and Investigator, at The Lundquist Institute]; and Ralph Laufer [Chief Scientific Officer at Lysogene] Parenting Siblings of Children with Sanfilippo (1:30:03 – 2:13:00) | Kenneth Phelps [Associate Professor of Clinical Psychiatry at Prisma Health, University of South Carolina]; and Grey Chapin and Noah Siedman [rare siblings] Thank you and Closing (2:13:03 – 2:14:31) | Glenn and Cara O’Neill [Co-Founders and President and Chief Science Officer, respectively, Cure Sanfilippo Foundation | Parents of Child with Sanfilippo Type A
Cure Sanfilippo Foundation is grateful to the experts (scientists, clinicians, parents, and more) who shared their knowledge on a wide range of topics relevant to the Sanfilippo syndrome community. Cure Sanfilippo Foundation is also thankful for the partner sponsors that supported ADVANCE 2022: Denali Therapeutics, JCR Pharmaceutical Co., Lysogene, Orchard Therapeutics, and Ultragenyx Pharmaceutical Inc. Please stay tuned for announcements about future ADVANCE conferences. If you would like to be included in email updates from the Foundation, please let us know at email@example.com.