2nd Annual Robert J. Gorlin Symposium

Precision Medicine: A multidisciplinary approach

Program Chair: Jeanine R. Jarnes, PharmD
February 21, 2024
2:00 – 3:30 PM Eastern Standard Time (EST)

The Robert J. Gorlin Symposium honors the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was a geneticist, maxillofacial pathologist, and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium will focus on precision medicine in lysosomal diseases.

Overview

The goal of this 90 minute symposium held at WORLDSymposium 2023 will be to address the tremendous opportunity for Precision Medicine in lysosomal diseases. Over the past decade there has been much discussion about “Precision Medicine” and its use for many different diseases, including lysosomal disorders. Although it is not a new concept, more and more researchers and clinicians are recognizing that precision medicine must guide the path forward for patients with lysosomal diseases. At its core, the goal of precision medicine is to customize the treatment plan for a specific individual. This precision approach attempts to utilize expanded genotyping to guide clinicians to determine which treatments will most benefit a specific patient. In lysosomal disorders, the genotype and phenotype of the individual patient are particularly important. Clinicians must keep all of this in mind, along with environmental, geographic and cultural influences. The hope is for all patients with lysosomal disorders to be able to benefit from targeted diagnosis, prevention, and treatment plans. This symposium will tap into the resources of a multidisciplinary panel to provide a comprehensive approach to precision medicine going forward. The session will discuss the history of precision medicine, the role of pharmacogenetics and pharmacogenomics, the status of precision medicine with case examples for several lysosomal diseases, and how to implement precision medicine programs for  lysosomal diseases.  The session will conclude with a panel discussion and audience Q&A.  

Preliminary Agenda

Tuesday, February 21, 2023 (2:00 – 3:30 PM)

1:45 PMDoors Open and Participant Seating
2:00 PMWelcome and Introduction of Speakers (Jeanine R. Jarnes)
2:05 PMOverview of Precision Medicine (Jeanine R. Jarnes)
2:15 PMCase Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases (Filippo Pinto e Vairo)
2:35 PMNIH-Funded Resources: ClinGen and ClinVar (Jennifer Goldstein)
2:55 PMImplementation of Pharmacogenomics Programs within Clinical Settings (Jeanine R. Jarnes)
3:10 PMPanel Discussion and Audience Q&A
3:30 PMAdjourn 

Learning Objectives

At the conclusion of one or more of the proposed activities, participants will be better able to:

  • Review the definition of precision medicine, identifying opportunities to impact lysosomal disease diagnosis and treatment.
  • Delineate new analytical methods, multi-omic data analysis, and translational research to identify a diagnosis in patients for whom other testing was not sufficient to return a genetic diagnosis.
  • Discuss the role of the NIH ClinGen and ClinVar central databases, including the classification of pathogenicity and the resources available to clinicians. 
  • Identify steps to implement pharmacogenomics and precision medicine programs within clinical settings.

Target Audience

This activity is intended for healthcare professionals involved in the screening, diagnosis, management, and treatment of lysosomal diseases affecting both children and adults, with research and clinically relevant information geared specifically to the following professionals:

  • Medical and clinical geneticists; genetic counselors; pediatricians; neurologists; psychologists; nurse practitioners; physician assistants; registered nurses; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, lysosomal diseases.
  • Laboratory directors and technicians involved in genetic testing.
  • Researchers involved in lysosomal disorders and treatments.
  • Clinical, laboratory and research trainees of genetics and all biomedical sciences with a focus on lysosomal diseases.
  • Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics in the area of lysosomal diseases.
  • Advocates for patients with lysosomal diseases and their families.

Chair:
Jeanine R. Jarnes, PharmD, BCOP, BCPS
Assistant Professor, Department of Pediatrics
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
University of Minnesota
Minneapolis, MN, USA

Faculty:
Filippo Pinto e Vairo, MD, PhD
Associate Consultant,
Department of Clinical Genomics,
Center for Individualized Medicine
Associate Professor of Medical Genetics
Mayo Clinic
Rochester, MN, USA

Jennifer Goldstein, PhD, CGC
Senior Biocurator,
ClinGen Biocuration Core
Research Assistant Professor, Department of Genetics
UNC-Chapel Hill
Chapel Hill, NC, USA

This activity is jointly provided by Partners for Advancing Clinical Education (PACE) and WORLDSymposium™

Jointly Accredited Provider Logo

Joint Accreditation Statement:
In support of improving patient care, this activity has been planned and implemented by Partners for Advancing Clinical Education (PACE) and WORLDSymposium. PACE is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Education:
PACE designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nursing Continuing Education:
The maximum number of hours awarded for this Continuing Nursing Education activity is 1.5 contact hours.

This activity is supported by educational grants from Chiesi USA, Inc., Takeda Pharmaceuticals USA, Inc., 4D Molecular Therapeutics, and Ultragenyx.

Disclosure of Conflicts of Interest:
PACE requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose all financial relationships they may have with ineligible companies. All relevant financial relationships are thoroughly vetted and mitigated according to PACE policy. PACE is committed to providing learners with high-quality accredited CE activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of an ineligible company. 

Emerging Trends in Lysosomal Biology & Lysosomal Diseases: State-of-the-Art for Experts

Tuesday, February 21, 2023, 4:00 – 6:00 PM EST

For the eleventh consecutive year, WORLDSymposium™ began with “Emerging Trends”. This 2-hour CME/CE course provides a state-of-the-art update for experts working in lysosomal biology and lysosomal diseases. This course is a summary of the latest research trends and other advances in the field.

Seasoned researchers provide a global review of the past years’ advances, a state-of-the-art overview of lysosome biology, diseases and therapies. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases. This course is taught at the postgraduate level, e.g., those with a PhD, MD, PharmD, DDS, MS, MPH, etc.

The content provides comprehensive information on lysosomal diseases, but does not overlap or replace the scientific data being presented during WORLDSymposium 2023.

Learning Objectives

Upon completion of this educational activity, the participant should be better able to:

  1. Describe the basic structure, function and molecular biology of lysosomes.
  2. Identify specific lysosomal diseases, their clinical manifestations, and means of diagnosis.
  3. Review current treatments for lysosomal diseases, the potential side effects, and their expected clinical outcomes.
  4. Correlate the molecular biology of lysosomes with clinical features, diagnostic testing, and treatment approaches.
  5. Identify important regulatory considerations in the design of a clinical trial for lysosomal diseases.

2023 Emerging Trends Agenda

Introduction
Chester B. Whitley, PhD, MD

Lysosomal Function and Pathogenesis
Gregory A. Grabowski, MD

Clinical Features
Marc C. Patterson, MD

Newborn Screening
Amy Gaviglio, MS, LCGC

Lysosomal Disease Therapies
Jeanine R. Jarnes, PharmD

Regulatory Review
Christine Yuen-Yi Hon, PharmD

Patient Perspective
Jennifer Klein, MS 

Rare Disease Research
N. Matthew Ellinwood, DVM, PhD 

Panel Q&A
All Speakers

2023 Emerging Trends Faculty

Chair: Chester B. Whitley, PhD, MD
Course Director
WORLDSymposium and “Emerging Trends: State-of-the-Art for Experts”
Professor, Department of Pediatrics, and
Experimental and Clinical Pharmacology
University of Minnesota
Principal Investigator, Lysosomal Disease Network
Minneapolis, MN, USA

Gregory A. Grabowski, MD
Professor Emeritus 
University of Cincinnati College of Medicine 
Departments of Pediatrics, and Molecular Genetics,  
Biochemistry and Microbiology 
Division of Human Genetics 
Cincinnati Children’s Hospital Research Foundation 
Cincinnati, OH, USA 

Marc C. Patterson, MD, FRACP
Professor of Neurology, Pediatrics and Medical Genetics
Editor-in-Chief, Journal of Child Neurology and Child Neurology Open
Editor, Journal of Inherited Metabolic Disease and JIMD Reports
Mayo Clinic Children’s Center
Rochester, MN, USA

Amy Gaviglio, MS, LCGC
G2S Corporation
Newborn Screening and Molecular Biology Branch
Division of Laboratory Sciences, NCEH
Centers for Disease Control and Prevention
Minneapolis, MN, USA

Jeanine R. Jarnes, PharmD, BCOP, BCPS
Assistant Professor, Department of Pediatrics
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
University of Minnesota
Minneapolis, MN, USA

Christine Yuen-Yi Hon, PharmD
Clinical Analyst
Division of Rare Diseases & Medical Genetics
Office of New Drugs | CDER | FDA
Silver Spring, MD, USA

Jennifer Klein, MS
Operations and Program Management
Odylia Therapeutics
Scientific Advisory Board, ISMRD
Co-Founder, Mucolipidosis Collaborative Research Network 
Adult Resource Committee 
National MPS Society 
Durham, NC, USA 

N. Matthew Ellinwood, DVM, PhD
Chief Scientific Officer 
National MPS Society 
Durham, NC, USA 

Target Audience:
This activity has been designed for geneticists, pediatricians, primary care practitioners, registered nurses, nurse practitioners, physician assistants, genetic counselors, and other researchers and health care practitioners involved with the identification of disease mechanisms and potential treatments, or involved with the diagnosis and management of individuals with lysosomal diseases. In addition, the content is designed to be applicable to individuals with lysosomal diseases and their family members, as well as advocacy groups involved with raising awareness.

Jointly Accredited Provider Logo

Joint Accreditation Statement:
In support of improving patient care, this activity has been planned and implemented by Partners for Advancing Clinical Education (PACE) and WORLDSymposium. PACE is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physician Continuing Education:
PACE designates this activity for a maximum of 2.0 AMA PRA Category 1 Credit(s)™.  Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Nursing Continuing Education:
The maximum number of hours awarded for this Continuing Nursing Education is 2.0 contact hours. 

Genetic Counselor CEUs:
The National Society of Genetic Counselors (NSGC) has authorized WORLDSymposia, LLC, to offer up to 2.583 CEUs or 25.83 Category 1 contact hours for the activity 19th Annual WORLDSymposium 2023. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification. 

  • WORLDSymposium – 2.583 CEUS or 25.83 Category 1 contact hours 
  • Emerging Trends – 0.200 CEUs or 2.00 Category 1 contact hours 

WORLDSymposium™ 2023 Preliminary Program on Lysosomal Diseases

On Tuesday afternoon, the 2nd Annual Robert J. Gorlin Symposium honored the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was an maxillofacial pathologist, geneticist and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium focused on precision medicine in lysosomal diseases.

Following the Gorlin Symposium, seasoned researchers provided a global review of the past years’ advances, including a state-of-the-art overview of lysosome biology, diseases and therapies in the Emerging Trends Session. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases.

1:45 PM2nd Annual Robert J. Gorlin SymposiumPrecision Medicine: A Multidisciplinary Approach
2:00 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States		Welcome and Introduction of Speakers and Overview of Precision Medicine
2:15 PMFilippo Pinto e Vairo
Mayo Clinic
Rochester, MN, United States		Case Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases
2:35 PMJennifer Goldstein
UNC-Chapel Hill
Chapel Hill, NC, United States		NIH-Funded Resources: ClinGen and ClinVar
2:55 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States		Implementation of Pharmacogenomics Programs within Clinical Settings
3:10 PMPanel Discussion and Audience Q&A
Emerging Trends
State-of-the-Art for Experts
4:00 PMChester B. Whitley
Course Director
University of Minnesota
Minneapolis, MN, United States		Introduction and Course Overview
4:01 PMGregory A. Grabowski
Cincinnati Children’s Hospital Research Foundation
Cincinnati, OH, United States		Lysosomal Function and Pathogenesis
4:15 PMMarc C. Patterson
Mayo Clinic Children’s Center
Rochester, MN, United States		Clinical Features
4:30 PMAmy Gaviglio
Centers for Disease Control and Prevention
Minneapolis, MN, United States		Newborn Screening
4:45 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States		Lysosomal Disease Therapies
5:00 PMChristine Yuen-Yi Hon
Office of New Drugs | CDER | FDA
Silver Spring, MD, USA		Regulatory Review
5:15 PMJennifer Klein
National MPS Society
Durham, NC, United States		Patient Perspective
5:30 PMN. Matthew Ellinwood
National MPS Society
Durham, NC, United States		Rare Disease Research
5:45 PMChester B. Whitley
Moderator
University of Minnesota
Minneapolis, MN, United States		Open Q&A
6:00 PMBe the Catalyst Event

After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2023 officially began with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions are designed to improve our understanding or prediction of the phenomena involved in lysosomal pathology at a molecular, cellular, and animal model level in order to forwardly think about diagnosis and treatment of lysosomal conditions. These Basic Science sessions are always innovative and present the latest findings in the field. Download the WORLDSymposium 2023 program (PDF 200KB).

Basic Science

Moderators: Brian Bigger, Lalitha Belur, and Michael Przybilla

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States		Welcome & Announcements
Presentation of 2023 Roscoe O. Brady Award to William A. Gahl
William A. Gahl
National Human Genome Research Institute
Bethesda, MD United States		Roscoe O. Brady Award Presentation: Pursuing Advances in Rare and Undiagnosed Diseases
8:00 AMXiangli Zhao
New York University Grossman School of Medicine
New York, NY, United States		A brain penetrant progranulin-derived biologic protects against neuronopathic Gaucher disease
*2023 Young Investigator Award Recipient
Yi Lin
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States		Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1
Zhenting Zhang
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States		A multifaceted evaluation of microgliosis and differential cellular dysregulations of mTOR signaling with fluctuating lysosome function in neuronopathic Gaucher disease
*2023 Young Investigator Award Recipient
Irene Serrano Gonzalo
Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales
Zaragoza, Spain		Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease
Moderated Q&AXiangli Zhao, Yi Lin, Zhenting Zhang, and Irene Serrano Gonzalo
9:00 AMMaria Fuller
SA Pathology
North Adelaide, Australia		Signature biomarkers for diagnosis, screening, and biochemical monitoring of the mucopolysaccharidoses
Rebecca C. Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States		Biomarkers of disease severity in multiple sulfatase deficiency
Hannah Best
Cardiff University
Cardiff, United Kingdom		The Batten disease associated protein CLN3 is required for the efflux of lysosomal K+
*2023 Young Investigator Award Recipient
Tyler M. Pierson
Cedars-Sinai Medical Center
Los Angeles, CA, United States		Modeling CLN6 with IPSC-derived neurons and glia
Moderated Q&AMaria Fuller, Rebecca C. Ahrens-Nicklas, Hannah Best, and Tyler M. Pierson
10:00 AMBreak
10:30 AMFrancyne Kubaski
Greenwood Genetic Center
Greenwood, SC, United States		Sensitivity and specificity of four lysosomal disorder biomarkers in dried blood spots
Neil Kasaci
Lysosomal and Rare Disorders Research and Treatment Center
Fairfax, VA, United States		Caspase inhibitors can counteract inflammasome activation and caspase-1 mediated fibrosis in Fabry disease
*2023 Young Investigator Award Recipient
Saida Ortolano
Galicia Sur Health Research Institute
Vigo, Spain		PBXs: New pharmacological chaperones to increase α-galactosidase A activity in Fabry disease cellular models
Efecan Aral
University of Massachusetts – Amherst
Amherst, MA, United States		Establishing personalized medicine in Fabry disease through functional analysis of disease mutants
Moderated Q&AFrancyne Kubaski, Neil Kasaci, Saida Ortolano, and Efecan Aral
11:30 AMBreak and Satellite Symposia
1:00 PMBehzad Najafian
University of Washington
Seattle, WA, United States		The spectrum of podocyte injury in later onset (LO) variants of Fabry disease (FD)
David Smerkous
Oregon State University
Corvallis, OR, United States		Development of an online cloud-based tool for automatic measurement of foot process width (FPW) using deep learning (DL): Applications in assessment of podocyte injury in Fabry disease (FD)
*2023 Young Investigator Award Recipient
Alex J. Shamoun
University of Florida
Gainesville, FL, United States		Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II
Marta Artola
Leiden University
Leiden, Netherlands		1,6-epi-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease
Moderated Q&ABehzad Najafian, David Smerkous, Alex J. Shamoun, and Marta Artola
2:00 PMMahsa Taherzadeh
McGill University
Montreal, QC, Canada		Severe neuronal demyelination in Sanfilippo disease
Frederick Ashby
University of Florida
Gainesville, FL, United States		Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction
Chloé Dias
Université Toulouse III Paul Sabatier
Toulouse, France		Microglia-derived extracellular vesicles promote neuropathology in Sanfilippo syndrome
*2023 Young Investigator Award Recipient
Angela J. Espejo
Pontificia Universidad Javeriana
Bogotá D.C., Colombia 		Magnetite nanoparticles as a vehicle to transport recombinant hexosaminidase A and B through an in vitro model of the blood-brain barrier
Moderated Q&AMahsa Taherzadeh, Frederick Ashby, Chloé Dias, and Angela J. Espejo
3:00 PMPoster Session Exhibit Hall
5:15 PMSpeed Mentoring Session

After the presentation of the 2023 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Thursday were dedicated to the Translational Research category. In 2023, many of the presentations were dedicated to research topics in gene therapy, including innovations occurring in genetic therapeutic approaches in translation from laboratory to the clinic. Download the WORLDSymposium 2023 program (PDF 200KB).

Translational Research

Moderators: PJ Brooks, Amy Gaviglio, and Francyne Kubaski

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States		Welcome & Announcements
Presentation of 2023 Patient Advocate Leader (PAL) Award Announcement to Christine Waggoner and 2023 Young Investigator Awards Presentation
8:00 AMAnna-Maria Wiesinger
Paracelsus Medical University Salzburg
Salzburg, Austria		A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis
*2023 Young Investigator Award Recipient
Barbara K. Burton
Northwestern University Feinberg School of Medicine
Chicago, IL, United States		Newborn screening for mucopolysaccharidosis type II
Stuart M. Ellison
University of Manchester
Manchester, United Kingdom		Validation of a GMP stem cell gene therapy manufacturing process for mucopolysaccharidosis type II (MPS II) in preparation for an approved phase I/II clinical trial
Anna Luzzi
The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Torrance, CA, United States		Decreased regulatory T-cells in patients with Sanfilippo syndrome may allow the development of autoimmune disease
Moderated Q&AAnna-Maria Wiesinger, Barbara K. Burton, Stuart M. Ellison, and Anna Luzzi
9:00 AMKim M. Hemsley
Flinders University
Bedford Park, Australia		A prohibitin-targeting drug modifies aspects of disease in a mouse model of Sanfilippo syndrome
Simon Jones
St. Mary’s Hospital
Manchester, United Kingdom		Sustained biochemical engraftment and early clinical outcomes following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Oriana Mandolfo
University of Manchester
Manchester, United Kingdom		Developing an iPSC-based neural gene therapy approach for MPS IIIA
Nissrine Ballout
Université Toulouse III Paul Sabatier
Toulouse, France		Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB)
*2023 Young Investigator Award Recipient
Moderated Q&AKim M. Hemsley, Simon Jones, Oriana Mandolfo, and Nissrine Ballout
10:00 AMBreak & Exhibits
10:30 AMTroy Lund
University of Minnesota
Minneapolis, MN, United States		Decreases in CSF neuro-inflammatory markers are associated with gain in neurocognitive function after ERT + HCT in Hurler syndrome
Roselena S. Schuh
Universidade Federal do Rio Grande do Sul
Porto Alegre, Brazil		Nasal administration of laronidase-loaded liposomes aiming at mucopolysaccharidosis type I treatment
*2023 Young Investigator Award Recipient
Michael J. Przybilla
University of Minnesota
Minneapolis, MN, United States		Treating murine Hurler syndrome utilizing small-activating RNA following bone marrow transplant
Betul Celik
University of Delaware
Newark, DE, United States		Lentiviral gene therapy for mucopolysaccharidosis type IVA
Moderated Q&ATroy Lund, Roselena S. Schuh, Michael J. Przybilla, and Betul Celik
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMLeigh Fremuth
St. Jude Children’s Research Hospital
Memphis, TN, United States		AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study
Sandra Vranic
University of Manchester
Manchester, United Kingdom		Defect-free graphene enhances enzyme delivery to fibroblasts derived from the patients with lysosomal disorders
Paul J. Orchard
University of Minnesota
Minneapolis, MN, United States		Compassionate use of OTL-200 for patients with metachromatic leukodystrophy
Laura A. Adang
Children’s Hospital of Philadelphia
Philadelphia, PA, United States		Developmental delay can precede neurologic regression in metachromatic leukodystrophy
Moderated Q&ALeigh Fremuth, Sandra Vranic, Paul J. Orchard, and Laura A. Adang
2:00 PMLars Schlotawa
University Medical Center Goettingen
Goettingen, Germany		Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency
Aimee Donald
University of Manchester
Manchester, United Kingdom		Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report
Andreas Hahn
University Hospital Giessen
Giessen, Germany		Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme AGT-194
Jason A. Weesner
St. Jude Children’s Research Hospital
Memphis, TN, United States		Preclinical enzyme replacement therapy with a recombinant β-galactosidase-lectin fusion for CNS delivery and treatment of GM1-gangliosidosis
*2023 Young Investigator Award Recipient
Moderated Q&ALars Schlotawa, Aimee Donald, Andreas Hahn, and Jason A. Weesner
3:00 PMPoster SessionExhibit Hall
5:15 PMSatellite Symposia

Friday began with a keynote address from Dr. Peter Marks: “Taking Gene Therapy to the Next Level.” Following Dr. Marks’s address, the presentations shifted to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category had a US FDA Investigational New Drug (IND) application for a phase I-III clinical trial or hold an EMA Investigational Medicinal Product Dossier (IMPD) or equivalent. Clinical Outcomes abstracts also were presented. Download the WORLDSymposium 2023 program (PDF 200KB).

Clinical Applications

Moderators: Lynda Polgreen, Marc Patterson, and Filippo Vairo

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States		Welcome and Keynote Speaker Introduction
Peter Marks
Center for Biologics Evaluation and Research
US Food & Drug Administration (FDA)
Silver Spring, MD, United States		Keynote Address: 
Taking Gene Therapy to the Next Level
8:00 AMFrancesca Fumagalli
San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute
Milan, Italy		Long-term clinical outcomes of atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy [HSC-GT] for metachromatic leukodystrophy) with up to 11 years follow-up
Maria Jose de Castro Lopez
Hospital Clínico Universitario de Santiago de Compostela
Santiago, Spain		Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease
Robert J. Hopkin
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States		STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results
Valeria Calbi
San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute
Milan, Italy		Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use
Moderated Q&AFrancesca Fumagalli, Maria Jose de Castro Lopez, Robert J. Hopkin, and Valeria Calbi
9:00 AMJoseph Muenzer
University of North Carolina Chapel Hill
Chapel Hill, NC, United States		Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
Paul Harmatz
UCSF Benioff Children’s Hospital Oakland
Oakland, CA, United States		Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I
Raymond Y. Wang
CHOC Children’s Specialists
Orange, CA, United States		RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study
Cara O’Neill
Cure Sanfilippo Foundation
Columbia, SC, United States		Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
Moderated Q&AJoseph Muenzer, Paul Harmatz, Raymond Y. Wang, and Cara O’Neill
10:00 AMBreak & Exhibits
10:30 AMBarry J. Byrne
University of Florida
Gainesville, FL, United States		Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
Erin Huggins
Duke University
Durham, NC, United States		Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Priya S. Kishnani
Duke University Medical Center Durham
Durham, NC, United States		Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Jordi Diaz Manera
Newcastle University
Newcastle Upon Tyne, United Kingdom		AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study
Moderated Q&ABarry J. Byrne, Erin Huggins, Priya S. Kishnani, and Jordi Diaz Manera
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMEric Wallace
University of Alabama
Birmingham, AL, United States		First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study
John Bernat
University of Iowa Hospitals and Clinics
Iowa City, IA, United States		Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study
Melissa P. Wasserstein
Albert Einstein College of Medicine/Children’s Hospital at Montefiore
Bronx, NY, United States		Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
Roberto Giugliani
Federal University of Rio Grande do Sul
Porto Alegre, RS, Brazil		Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial
Moderated Q&AEric Wallace, John Bernat, Melissa P. Wasserstein, Roberto Giugliani
2:00 PMPramod K. Mistry
Yale University School of Medicine
New Haven, CT, United States		Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry
Jeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States		Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
Yoshikatsu Eto
Institute of Neurological Disease
Kawasaki City, Japan		Real-world data of enzyme replacement therapy with pabinafusp alfa for neuronopathic MPS-II: Updated clinical data from Japan
David L. Rogers
Nationwide Children’s Hospital
Columbus, OH, United States		Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Interim safety report
Moderated Q&APramod K. Mistry, Jeanine R. Jarnes, Yoshikatsu Eto, and David L. Rogers
3:00 PMPoster SessionExhibit Hall
5:15 PMSatellite Symposia

The fourth research day of the meeting began with the New Treatment Award. Then, for the fourth year, the Contemporary Forum allowed for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium were accredited and approved for CME credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allowed commercial interests to present their work to the WORLDSymposium audience, in that non-CME session, while being held to all the same standards as the ACCME accredited sessions and scored for merit and interest by the same Program Committee. Download the WORLDSymposium 2023 program (PDF 200KB).

Contemporary Forum

Moderators: Nishitha Pillai, Dan Tagle, and Ellen Sidransky

6:15 AMSatellite Symposia
7:45 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States		Welcome and New Treatment Award
8:00 AMShababa T. Masoud
Denali Therapeutics
South San Francisco, CA, United States		ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, corrects heparan sulfate accumulation, lysosomal lipid storage and inflammation in MPS IIIA mouse brain
Asuka Inoue
JCR Pharmaceuticals Co., Ltd.
Kobe, Japan		Nonclinical pharmacodynamics, pharmacokinetics and safety profiles of anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase for mucopolysaccharidosis type IIIA
Andrew Hedman
M6P Therapeutics
St. Louis, MO, United States		Novel dual promoter AAV gene therapy platform ensures production of therapeutic soluble lysosomal enzymes with high M6P content to enable broad cellular uptake and cross correction in vivo
Charu Reddy
Codexis
San Carlos, CA, United States		An engineered β-galactosidase with improved stability and cross-correction for the potential treatment of GM1 gangliosidosis via AAV gene therapy
Moderated Q&AShababa T. Masoud, Asuka Inoue, Andrew Hedman, and Charu Reddy
9:00 AMStephanie Cherqui
University of California San Diego
La Jolla, CA, United States		Phase 1/2 clinical trial of autologous hematopoietic stem and progenitor cell (HSPC) gene therapy for cystinosis
Shyam Ramachandran
Sanofi
Waltham, MA, United States		AAV-ARSA-mediated gene replacement for the treatment of metachromatic leukodystrophy
Mathews Adera
AVROBIO, Inc.
Cambridge, MA, United States		The Guard1 clinical trial – A first in-human, phase 1/2 study evaluating AVR-RD-02, a hematopoietic stem cell (HSC) gene therapy for Gaucher disease: Preliminary safety, pharmacodynamic and clinical efficacy results from the subjects observed for up to 24 months post-infusion
Maria L. Escolar
Forge Biologics
Grove City, OH, United States		First-in-human phase 1/2 trial of intravenous FBX-101 following hematopoietic stem cell transplantation increases GALC activity, supports brain development, and improves motor function in patients with infantile Krabbe disease: RESKUE clinical trial
Moderated Q&AStephanie Cherqui, Shyam Ramachandran, Mathews Adera, and Maria L. Escolar
10:00 AMBreak & Exhibits
10:30 AMRaphael Schiffmann
4D Molecular Therapeutics
Emeryville, CA, United States		Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up
Russell Gotschall
M6P Therapeutics
St. Louis, MO, United States		M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe disease mice
Ana C. Puhl
Collaborations Pharmaceuticals, Inc.
Raleigh, NC, United States		Developing treatments for rare diseases on a shoestring: The Batten disease (CLN1) enzyme replacement therapy experience
Michael H. Gelb
University of Washington
Seattle, WA, United States		A glimpse into the feasibility of next generation sequencing for newborn screening of lysosomal and other diseases with second-tier biochemical assays as part of the screening process
Moderated Q&ARaphael Schiffmann, Russell Gotschall, Ana C. Puhl, and Michael H. Gelb
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMKyle Landskroner
Azafaros AG
Basel, Switzerland		AZ-3102 significantly increases survival and decreases neuroinflammation in a mouse model of Sandhoff disease
Yannan Xi
Maze Therapeutics
South San Francisco, CA, United States		Small molecule inhibition of glycogen synthase 1 restores autophagolysosomal and metabolic pathway dysfunction in a mouse model of Pompe disease
Shivakumar Pattada
BioStrategies LC
State University, AR, United States		RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model
Michael Tortorici
Aro Biotherapeutics
Berwyn, PA, United States		Centyrin-targeted glycogen synthase-1 siRNA conjugates: A novel therapeutic modality for the treatment of Pompe disease
Moderated Q&AKyle Landskroner, Yannan Xi, Shivakumar Pattada, and Michael Tortorici
2:00 PMNagy Habib
MiNA Therapeutics Ltd
London, United Kingdom		Drugging transcription factors with small activating RNAs: A novel approach for enhancing bone marrow therapy for monogenic rare diseases
Meera Modi
Takeda
Cambridge, MA, United States		Building a better translational model of neuropathic Gaucher disease
Yinyin Huang
Sanofi
Cambridge, MA, United States		Using single nuclear RNAseq to assess impact of AAV-ARSA gene therapy on oligodendrocyte populations
Kwi Hye Kim
REGENXBIO Inc
Rockville, MD, United States		In vitro pharmacology study using retina organoids and retina-on-a-chip of CLN2 patient-derived induced pluripotent stem cells
Moderated Q&ANagy Habib, Meera Modi, Yinyin Huang, and Kwi Hye Kim
3:00 PMPoster Session Exhibit Hall

Toward bringing the most recent research to the platform of WORLDSymposium 2023, after the late-breaking abstract submissions closed on December 1, 2022, selected late-breaking abstracts were identified by the Program Committee as being suitable for platform presentation. In order to provide access to the “hot-off-the-presses” content from these researchers, late-breaking abstracts were reviewed and scored, and the top-scoring abstracts were selected for presentation during the 2023 meeting. Download the WORLDSymposium 2023 program (PDF 200KB).

Late-Breaking Science

Moderators: Elizabeth Braunlin, Roberto Giugliani, and Rebecca Ahrens-Nicklas

8:00 AMLi Ou
Genemagic Bio
Agoura Hills, CA, United States		A meta-analysis of 39 AAV clinical trials for lysosomal diseases: Immunogenicity, toxicity, and durability
Lucas Tricoli
Children’s Hospital of Philadelphia
Philadelphia, PA, United States		Improved gene therapy for metachromatic leukodystrophy
Andrés Felipe Leal
Pontificia Universidad Javeriana
Bogotá D.C., Colombia		Assessment of an iron oxide-coupled CRISPR/nCas9 gene editing in mucopolysaccharidoses type IVA mouse model
Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States		The PS Gene-editing (PSG) System for treatment of lysosomal diseases
Moderated Q&ALi Ou, Lucas Tricoli, Andres Leal, and Chester B. Whitley
9:00 AMCan Ficicioglu
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States		RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): interim analysis of data from the first in human study
Kelly George
Sanofi
Cambridge, MA, United States		Anti-mouse-TfR-GAA fusion proteins for the treatment of Pompe disease targeting the central nervous system and peripheral tissues
Julie C. Ullman
Maze Therapeutics
South San Francisco, CA, United States		Results from a first in human study of MZE001, an orally bioavailable inhibitor of glycogen synthase 1 and potential substrate reduction therapy for Pompe disease
Benedikt Schoser
Ludwig-Maximilians-Universität München
Munich, Germany		Long-term efficacy and safety of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: A phase III open-label extension study (ATB200-07)
Moderated Q&ACan Ficicioglu, Kelly George, Julie C. Ullman, and Benedikt Schoser
10:00 AMBreak
10:15 AMXiomara Rosales
Neurogene Inc.
New York, NY, United States		Evidence from a study of CLN5 -/- sheep supporting dose escalation in an ongoing clinical trial of NGN-101 in pediatric patients with CLN5 Batten disease
Patricia I. Dickson
Washington University in St. Louis
Saint Louis, MO, United States		Intraventricular recombinant human N-acetylglucosamine-6-sulfatase corrects lysosomal storage in mucopolysaccharidosis type IIID mice
Eric H. Zanelli
Allievex Corporation
Boston, MA, United States		Tralesinidase alfa modifies the course of Sanfilippo syndrome type B
Akos Herzeg
Center for Maternal-Fetal Precision Medicine, UCSF
San Francisco, CA, United States		A phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders: Interim results
Moderated Q&AXiomara Rosales, Patricia I. Dickson, Eric H. Zanelli, and Akos Herzeg
11:15 AMWORLDSymposium 2023 Adjourns

2023 DIAMOND EXHIBITORS

Amicus Therapeutics

Amicus Therapeutics is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge medicines for rare metabolic diseases.

Sanofi

We are an innovative global healthcare company, driven by one purpose: we chase the miracles of science to improve people’s lives. Our team, across some 100 countries, is dedicated to transforming the practice of medicine by working to turn the impossible into the possible. We provide potentially life-changing treatment options and life-saving vaccine protection to millions of people globally, while putting sustainability and social responsibility at the center of our ambitions.

Takeda Pharmaceutical Company Limited

Takeda is a patient-focused, values-based, R&D-driven global biopharmaceutical company; our passion and pursuit of potentially life-changing treatments are rooted in our history. We know patients with rare diseases have spent their lives overcoming challenges. That’s why for 70+ years we’ve been working to support them in their fight.

2023 PLATINUM EXHIBITORS

Chiesi Global Rare Diseases

Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focuses on research and development of treatments for rare and ultra-rare disorders. The unit is also a dedicated partner with global leaders to patient advocacy, research and patient care.

JCR Pharmaceuticals Co., Ltd.

JCR Pharmaceuticals Co., Ltd. (TSE 4552) is a global specialty pharmaceuticals company that is redefining expectations and expanding possibilities for people with rare and genetic diseases worldwide. We continue to build upon our 47-year legacy in Japan while expanding our global footprint into the US, Europe, and Latin America. We improve patients’ lives by leveraging our expertise in manufacturing and R&D to advance medicine. Our core values – reliability, confidence, and persistence – benefit all our stakeholders, including employees, partners, and patients. Together we soar.

2023 GOLD EXHIBITORS

4D Molecular Therapeutics (4DMT)

4DMT is a genetic medicines company with a transformative discovery platform—Therapeutic Vector Evolution—that enables our “disease first” approach to product discovery and development, thereby allowing us to customize our AAV vectors to target specific tissue types associated with the underlying disease.

Astellas Gene Therapies

Astellas Gene Therapies is an Astellas Center of Excellence developing genetic medicines with the potential to deliver transformative value for patients. Based on an innovative scientific approach and industry leading internal manufacturing capability and expertise, we are currently exploring various gene therapy modalities, including gene replacement. We are based in San Francisco, California with manufacturing and laboratory facilities in South San Francisco, California and Sanford, North Carolina.

BioMarin Pharmaceutical

BioMarin is a world leader in developing and commercializing innovative therapies for rare diseases driven by genetic causes. With a 20+ year history, BioMarin remains steadfast to its original mission—to bring new treatments to market that will make a big impact on small patient populations. Visit www.biomarin.com to learn more.

Orchard Therapeutics

At Orchard Therapeutics, our vision is to end the devastation caused by genetic and other severe diseases. We aim to do this by discovering, developing and commercializing new treatments that tap into the curative potential of hematopoietic stem cell (HSC) gene therapy.

Passage Bio

Passage Bio (Nasdaq: PASG) is a clinical-stage genetic medicines company on a mission to provide life-transforming therapies for patients with CNS diseases with limited or no approved treatment options. Our portfolio spans pediatric and adult CNS indications, and we are currently advancing clinical programs in GM1 gangliosidosis and frontotemporal dementia and our preclinical pipeline, including programs in amyotrophic lateral sclerosis and Huntington’s disease. 

Ultragenyx

Ultragenyx is a biopharmaceutical company committed to bringing novel therapies to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved medicines and treatment candidates aimed at addressing diseases with high unmet medical need and clear biology, for which there are typically no approved therapies treating the underlying disease.

2023 EXHIBITORS

Aeglea BioTherapeutics

Aeglea specializes in rare metabolic disorders, developing novel medicines to bring better balance to the lives of patients and families battling these devastating diseases.

ARCHIMEDlife

ARCHIMEDlife is an innovative and dynamic Medical Laboratory providing high quality, specialized diagnostic services for Rare Diseases, located in Vienna, Austria. The company is committed to helping physicians and their patients avoid diagnostic odysseys by delivering leading-edge, rapid services. More than 20,000 physicians in 80 countries have trusted in ARCHIMEDlife.

Azafaros

Azafaros is a clinical-stage biotech start-up, founded in 2018 by experienced industry professionals and scientists. We aspire to address rare genetic lysosomal storage disorders through a pipeline of oral small molecules with disease-modifying capability. Based on discoveries from Leiden University and Amsterdam University Medical Center in the Netherlands, Azafaros’ initial objective is to develop a potential disease-modifying therapy for GM1 and GM2 gangliosidoses and Niemann Pick C.

Denali Therapeutics

Denali is a biotechnology company developing drug candidates engineered to cross the blood-brain barrier (BBB) for neurodegenerative diseases. Our scientific strategy is guided by three overarching principles: 1) genetic pathway potential; 2) engineering brain delivery; and 3) biomarker-driven clinical development. We are committed to advancing new potential treatments for lysosomal disorders that affect the brain, starting with DNL310, our investigational IV enzyme replacement therapy for Hunter syndrome (MPS II).

Freeline Therapeutics

Freeline Therapeutics is a clinical-stage biotechnology company developing transformative gene therapies for people with inherited systemic debilitating diseases.

Greenwood Genetic Center

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and resources, and research in the field of medical genetics.

Homology Medicines, Inc.

Homology Medicines, Inc. is a clinical-stage genetic medicines company dedicated to transforming the lives of patients suffering from rare diseases by addressing the underlying cause of the disease. Homology believes its initial clinical data and compelling preclinical data, scientific and product development expertise and broad intellectual property position the Company as a leader in genetic medicines.

Horizon Therapeutics

Horizon is a global biotechnology company focused on the discovery, development and commercialization of medicines that address critical needs for people impacted by rare, autoimmune and severe inflammatory diseases. Our pipeline is purposeful: We apply scientific expertise and courage to bring clinically meaningful therapies to patients. We believe science and compassion must work together to transform lives.

Immusoft Corporation

Immusoft is developing a cutting-edge approach to the sustained delivery of protein therapeutics using a patient’s own cells. The approach is called Immune System Programming (ISP™). ISP entails collecting a type of the patient’s immune cells, called B cells. In response to immune stimulation, B cells can turn into a biofactory state known as a plasma cell.

Inozyme

Inozyme Pharma is a global leader in developing therapies for rare mineralization disorders.

KemPharm Inc

KemPharm is a biotechnology company focused on the discovery, development and commercialization of novel treatments for rare diseases. KemPharm has a diverse product portfolio, combining a clinical-stage development pipeline with NDA-stage and commercial assets.

Lysosomal & Rare Disorders Research & Treatment Center, Inc

LDRTC uses the latest research to unravel underlying disease-causing mechanisms, discover new biomarkers, and explore new therapeutic pathways and treatment options for persons suffering from lysosomal and other rare diseases.

Protalix Ltd

Protalix, a biopharmaceutical company focused on development, production and commercialization of recombinant therapeutic proteins produced by our proprietary ProCellEx® plant cell-based protein expression system. Protalix developed taliglucerase alfa for treatment of Gaucher disease. The most advanced investigational drug in our pipeline is pegunigalsidase alfa, candidate for treatment of Fabry disease.

QPS LLC

QPS is an award winning global CRO providing discovery, preclinical and clinical drug development services since 1995. Our mission is to accelerate pharmaceutical breakthroughs across the globe by delivering custom-built research services in Toxicology, DMPK, Neuropharmacology, Preclinical and Clinical Drug Development. QPS is known for quality, standards & technical expertise.

Recordati Rare Diseases

At Recordati Rare Diseases, we focus on the few – those affected by rare diseases. They are our top priority and at the core of everything we do.

REGENXBIO Inc.

REGENXBIO Inc. is a leading clinical-stage biotechnology company seeking to improve lives through the curative potential of gene therapy using our NAV® Technology Platform. Our gene therapy product candidates are designed to deliver functional genes, enabling the production of therapeutic proteins or antibodies that are intended to impact disease.

Travere Therapeutics

Travere Therapeutics is a biopharmaceutical company dedicated to identifying, developing and delivering life-changing therapies to people living with rare disease.

Worldwide Clinical Trials

Worldwide Clinical Trials is a global, midsize CRO that provides top-performing bioanalytical and Phase I-IV clinical development services to the biotechnology and pharmaceutical industries. Our full-service clinical experience ranges from early phase and bioanalytical sciences through late phase studies, post approval, and real-world evidence.

2023 PATIENT ADVOCATE SHOWCASE

Associação Sanfilippo Portugal

The Sanfilippo Association Portugal (ASFP) is a non-profit organization dedicated to encourage and support research programs in Sanfilippo syndrome (MPS III) leading to the implementation of future therapeutics and to disclose appropriate information related to the disease.

Cure GM1 Foundation

The CURE GM1 FOUNDATION’s mission is to fund research for the benefit of all those who suffer from GM1 gangliosidosis. This nonprofit organization was founded by parents of children who suffer from GM1 who seek to save the lives of all those who suffer from this wretched condition. The Cure GM1 Foundation is dedicated to directly funding research for a cure for GM1 gangliosidosis – a lysosomal storage disease that attacks the brain and spinal cord. Over 50% of those impacted die before their fifth birthday. GM1 is a progressive and degenerative condition with an extremely broad and debilitating array of symptoms and complications.

Cure Sanfilippo Foundation

Cure Sanfilippo Foundation is a 501c3 nonprofit with a mission to advocate for and fund research directed toward a cure or treatment options for children with Sanfilippo syndrome.

Gaucher Community Alliance

The Gaucher Community Alliance is a peer-to-peer patient support organization for those affected with neuronopathic and non-neuronopathic Gaucher disease to help them live their fullest lives possible. We support patients and families through peer-to-peer networking, support and education; government and legislative advocacy; and patient and family resources.

nternational Gaucher Alliance

We are a global patient umbrella organization (registered charity) representing the Global Gaucher patient community.

Living in the Light of Rare Diseases

Living in the Light™ is a patient advocacy initiative producing unique and engaging photo, video and written content that educates the biotech industry and medical communities about the realities of rare and chronic diseases, and the profound effect they have on families and daily life. At Living in the Light, we are driven by our mission: empowering families and individuals affected by rare and chronic diseases to be seen and heard as they relay their stories and advocate for their needs.

MLD Foundation

MLD Foundation is the oldest and most experienced advocacy group dealing with Metachromatic Leukodystrophy. Our mission is we C.A.R.E. – facilitating Compassion and support for those affected with MLD, increasing Awareness of MLD, influencing Research, and promoting Education. Our current main focuses beyond helping and supporting newly diagnosed families and others on the MLD journey are applying to the Recommended Unified Screening Panel (RUSP) to make MLD newborn screening a given in all the states and working on access and reimbursement for rare diseases especially gene therapies.

National MPS Society

The National MPS Society exists to find cures for MPS and ML. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

National Organization for Rare Disorders

NORD’s mission is to drive public policy, accelerate research and improve care for people living with rare diseases.

National Tay-Sachs & Allied Diseases Assoc. (NTSAD)

National Tay-Sachs & Allied Diseases Association (NTSAD) leads the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases by driving research, forging collaboration, and fostering community. Supporting families is the center of everything we do.

Pompe Support Network

We are run by, and for, members of the Pompe community. As members of the UK LSD Collaborative and the International Pompe Association, we Influence research into safe, effective and affordable therapies, advocate for access to therapies and medical devices, share experiences and projects to improve physical and mental wellbeing.

WORLDSymposium 2023 Poster Sessions

In 2023, over 450 scientific abstracts were presented at eight separate poster sessions. These sessions are an excellent opportunity to see, hear and discuss specific research topics directly with the abstract authors. Although the ePoster content was available to registered attendees throughout WORLDSymposium 2023 via the Mobile App, the opportunity for live Q&A with the presenters is limited to their the assigned live poster sessions.

Click here to download the 2023 poster listing.

All abstracts received by the October 1, 2022 deadline were considered for platform presentation and inclusion in the special lysosomes issue of Molecular Genetics and Metabolism (MGM) which were published in February 2023. Poster notifications and assigned poster numbers were sent to the first author of the submitted abstract in early January 2023.

The late-breaking abstract submission site closed on December 1, 2022. Due to publication deadlines, late-breaking abstracts are published in the program materials, and are not published in Molecular Genetics and Metabolism (MGM).

Registered attendees had access to an electronic copy of the program and abstracts via the WORLDSymposium 2023 mobile app. Registered attendees logged into the mobile app using the code they received with their invitation to the mobile app. The program and abstracts are copyrighted and were available to non-registrants through Elsevier.

It is the policy of WORLDSymposium to publish all abstracts with the list of authors exactly as the abstract was submitted to WORLDSymposium. The first author of the submitted abstract were listed as the presenting author on the Preliminary Program, Agenda, and Poster List.

2023: Posters were divided into eight (8) Separate Sessions

The poster sessions provide an excellent opportunity to discuss concepts, share knowledge, and exchange ideas with abstract authors and other WORLDSymposium participants. Authors who accepted a poster presentation were assigned to present their abstract during one of eight Live (in-person)  sessions in the Exhibit Hall, based on the final abstract category for each abstract. Poster presenters are required to be in attendance at their poster for their assigned timeframe.

In addition, all poster presenters are required to submit an electronic version of their poster to be available to attendees throughout WORLDSymposium 2023. Details on ePoster submission were sent to all first authors approximately one month prior to the start of WORLDSymposium 2023.

All registered attendees had access to the ePosters beginning at 3:00 PM EST on Wednesday, February 22, 2023. The ePosters were displayed on electronic kiosks in the Exhibit Hall, during Exhibit hours at WORLDSymposium and remained available throughout WORLDSymposium 2023 and on demand until March 14, 2024.

All ePosters will be in the Exhibit Hall in the Orlando Ballroom:

  • Basic Science Abstracts were presented on Wednesday, February 22 from 3:00-5:00 PM EST
  • Translational Research Abstracts were presented on Thursday, February 23 from 3:00-5:00 PM EST
  • Clinical Applications Abstracts were presented on Friday, February 24 from 3:00-5:00 PM EST
  • Contemporary Forum Abstracts were presented on Saturday, February 25 from 3:00-5:00 PM EST
Basic SciencePoster Session IWednesday,
February 22 		3:00-4:00 PM
Basic SciencePoster Session IIWednesday,
February 22 		4:00-5:00 PM
Translational ResearchPoster Session IIIThursday,
February 23 		3:00-4:00 PM
Translational ResearchPoster Session IVThursday,
February 23 		4:00-5:00 PM
Clinical ApplicationsPoster Session VFriday,
February 24 		3:00-4:00 PM
Clinical ApplicationsPoster Session VIFriday,
February 24 		4:00-5:00 PM
Contemporary ForumPoster Session VIISaturday,
February 25 		3:00-4:00 PM
Contemporary ForumPoster Session VIIISaturday,
February 25 		4:00-5:00 PM

Any poster numbers not listed were not presented as the author was unable to attend the conference.

2023 Satellite Symposia Schedule

Wednesday, February 22, 2023, 6:15 AM – 7:15 AM
Exploring Next-generation Therapies to Mitigate Disease Progression in Pompe Disease
CE Satellite Symposium
Accredited provider: AKH Inc., Advancing Knowledge in Healthcare
Jointly provided by AKH Inc., Advancing Knowledge in Healthcare and Catalyst Medical Education, LLC
Supported by an independent educational grant from Amicus Therapeutics, Inc.
Click Here to Download Informational PDF

Wednesday, February 22, 2023, 6:15 AM – 7:15 AM
eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey
Sponsored by Sanofi
Click Here to Download Informational PDF

Wednesday, February 22, 2023, 11:45 AM – 12:45 PM
From Assay to Application: Writing the roadmap for metachromatic leukodystrophy newborn screening
Sponsored by Orchard Therapeutics
Click Here to Download Informational PDF

Wednesday, February 22, 2023, 11:45 AM – 12:45 PM
First for Fabry Disease: 20-years of Clinical and Real-World Evidence
Sponsored by Sanofi
Click Here to Download Informational PDF

Thursday, February 23, 2023, 6:15 AM – 7:15 AM
A treatment option for non-CNS manifestations of acid sphingomyelinase deficiency (ASMD): Patient and HCP perspectives on the transforming ASMD landscape
Sponsored by Sanofi
Click Here to Download Informational PDF

Thursday, February 23, 2023, 6:15 AM – 7:15 AM
Manifestations of Gaucher Disease: Rare or Under-recognized?
CE Satellite Symposium
Accredited provider: CME Outfitters, LLC
Supported by an educational grant from Takeda Pharmaceuticals USA, Inc.
Click Here to Download Informational PDF

Thursday, February 23, 2023, 11:45 AM – 12:45 PM
The Next Step Forward: Real World Experience in Patients with Late-Onset Pompe Disease
Sponsored by Sanofi
Click Here to Download Informational PDF

Thursday, February 23, 2023, 11:45 AM – 12:45 PM
Defining Patient-Focused Outcomes in Fabry Disease
Sponsored by Amicus Therapeutics, Inc.
Click Here to Download Informational PDF

Thursday, February 23, 2023, 5:15 PM – 6:15 PM
Understanding Phenotypic Variability in Lysosomal Diseases – Gaining a Foothold in Precision Medicine
Sponsored by Takeda Pharmaceutical Company Limited
Click Here to Download Informational PDF

Thursday, February 23, 2023, 5:15 PM – 6:15 PM
Fabry Disease is a Pediatric Disease
Sponsored by Sanofi
Click Here to Download Informational PDF

Friday, February 24, 2023, 6:15 AM – 7:15 AM
Following a path to multisystemic efficacy in Fabry disease
Sponsored by Amicus Therapeutics, Inc.
This satellite is open only to registered attendees from outside the United States. International participants only.
Click Here to Download Informational PDF

Friday, February 24, 2023, 6:15 AM – 7:15 AM
Uncovering the neurologic impact of enzyme deficiencies along the glycosphingolipid pathway: A case-based discussion
Sponsored by Sanofi
Click Here to Download Informational PDF

Friday, February 24, 2023, 11:45 AM – 12:45 PM
Challenges in delivering ERT in lysosomal disorders: Special considerations in LOPD
Sponsored by Amicus Therapeutics, Inc.
Click Here to Download Informational PDF

Friday, February 24, 2023, 11:45 AM – 12:45 PM
AAV Gene Therapy as a Potential Treatment Modality for Neuronopathic MPS II
Sponsored by REGENXBIO Inc.
Click Here to Download Informational PDF

Friday, February 24, 2023, 5:15 PM – 6:15 PM
One size does not fit all: Monitoring and management of anti-drug antibodies in lysosomal diseases with a focus on Fabry disease
Sponsored by Chiesi Global Rare Diseases
Click Here to Download Informational PDF

Friday, February 24, 2023, 5:15 PM – 6:15 PM
MPS IVA in adulthood: Recent findings from the largest global MPS IVA Registry Study
Sponsored by BioMarin Pharmaceutical Inc.
Click Here to Download Informational PDF

Saturday, February 25, 2023, 6:15 AM – 7:15 AM
Identifying, Monitoring, and Addressing Risk Factors Impacting Long-term Cardiac, Renal, and Neurological Disease Progression and Clinical Outcomes for Patients with Fabry Disease
CE Satellite Symposium
Accredited provider: Med Learning Group
Supported by an independent educational grant from Sanofi.
Click Here to Download Informational PDF

Saturday, February 25, 2023, 11:45 AM – 12:45 PM
The Rare Disease Ecosystem: A multi-stakeholder perspective on collaboration
Sponsored by Sanofi
Click Here to Download Informational PDF

Saturday, February 25, 2023, 11:45 AM – 12:45 PM
Pinpointing Alpha-Mannosidosis on the Map: Insights from the diagnostic odyssey of patients
Sponsored by Chiesi Global Rare Diseases
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2023 WORLDSymposium Young Investigator Awards Announced

Neil Kasaci, David Smerkous, Roselena S. Schuh, Zhenting Zhang, Chester B. Whitley, Chloé Dias, Nissrine Ballout, Jason A. Weesner, Anna-Maria Wiesinger (Not pictured: Hannah Best, Xiangli Zhao) 

Congratulations to the ten individuals selected to receive the 19th Annual WORLDSymposium Young Investigator Award. The award is a partial scholarship towards attendance at WORLDSymposium 2023. 75 investigators-in-training submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applications. WORLDSymposium would like to congratulate all of the applicants for their hard work.

The following individuals received the 2023 WORLDSymposium Young Investigator Award at the 19th Annual Scientific Meeting on Tuesday, February 23, 2023 at 7:30 AM EST:

  • Nissrine Ballout, Université Toulouse III Paul Sabatier, Toulouse, France
  • Hannah Best, Cardiff University, Cardiff, United Kingdom
  • Chloé Dias, Université Toulouse III Paul Sabatier, Toulouse, France
  • Neil Kasaci, Lysosomal and Rare Disorders Research and Treatment Center, Fairfax, Virginia, United States
  • Roselena S. Schuh, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
  • David Smerkous, Oregon State University, Corvallis, Oregon, United States
  • Jason A. Weesner, St. Jude Children’s Research Hospital, Memphis, Tennessee, United States
  • Anna-Maria Wiesinger, Paracelsus Medical University Salzburg, Salzburg, Austria
  • Zhenting Zhang, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, United States
  • Xiangli Zhao, New York University Grossman School of Medicine, New York, New York, United States

Christine Waggoner Received 2023 Patient Advocate Leader (PAL) Award

Past and Present Patient Advocate Leader Award Recipients
Chester B. Whitley, Cara O’Neill, Christine Waggoner, Terri L. Klein, and Mark Dant

Congratulations to Christine Waggoner, the recipient of the WORLDSymposium 2023 Patient Advocate Leader (PAL) Award. After reviewing numerous nominations, and considering many amazing individuals, the WORLDSymposium 2023 Awards Committee has selected Christine as the recipient of the 2023 PAL Award. Christine founded the Cure GM1 Foundation in April 2015 in honor of her daughter Iris and all those affected by GM1 gangliosidosis. Christine’s work at Cure GM1 has involved a broad range, including animal models, biomarkers, gene therapy, enzyme replacement therapy, patient registries, patient reported outcomes, newborn screening and the first-ever GM1 caregiver preferences study.

Christine received a B.A. from Brown University where she studied Visual Art and Computer Science. The combination of studies in art and technology served as a basis for her career in computer graphics and 3D feature film animation.  Christine holds 9 patents in computer graphics and has contributed to publications both pertaining to computer graphics and GM1 gangliosidosis. In 2017, Christine received the Sanofi TORCH award for outstanding patient advocacy.  She is also the recipient of an award for Outstanding Supporting Visual Effects in a Motion Picture and she is a member of the Association of Computing Machinery.  

The 2023 Patient Advocate Leader Award was presented at 7:30 AM EST on Thursday, February 23, 2023, at the 19th annual WORLDSymposium in Orlando, Florida.

WORLDSymposium™ 2023 Keynote Speaker

Peter Marks, MD, PhD Returned as Keynote Speaker on Friday, February 24, 2023

Peter Marks FDA Keynote WORLDSymposium 2023

WORLDSymposium was excited to announce the return of Peter Marks, MD, PhD, as the 2023 Keynote Speaker. Dr. Marks gave presentations to the WORLDSymposium audience in 2020 and 2021, providing important updates on the FDA’s role in rare disease research, and he presented the 2023 Keynote Address on Friday, February 24, 2023.

Dr. Marks is the director of the Center for Biologics Evaluation and Research (CBER) at the U.S. Food and Drug Administration (FDA). The center is responsible for assuring the safety and effectiveness of biological products, including vaccines, allergenic products, blood and blood products, and cellular, tissue, and gene therapies. Dr. Marks and center staff are committed to facilitating the development of biological products and providing oversight throughout the product life cycle.

Dr. Marks received his graduate degree in cell and molecular biology and his medical degree at New York University. Following this, he completed an Internal Medicine residency and Hematology/Medical Oncology fellowship at Brigham and Women’s Hospital in Boston, where he subsequently joined the attending staff as a clinician-scientist and eventually served as Clinical Director of Hematology. 

He then moved on to work for several years in the pharmaceutical industry on the clinical development of hematology and oncology products prior to returning to academic medicine at Yale University where he led the Adult Leukemia Service and served as Chief Clinical Officer of Smilow Cancer Hospital. He joined the FDA in 2012 as Deputy Center Director for CBER and became Center Director in 2016.  Dr. Marks is board certified in internal medicine, hematology and medical oncology, and is a Fellow of the American College of Physicians. 

Dr. Marks is a renowned speaker and expert in numerous areas, including the current issues facing gene therapy research not only in the United States, but also from a global perspective. In addition, in his role at the FDA, he is integrally involved in the development and approval process for COVID-19 vaccines. In 2022, he became a Member of the National Academy of Medicine, one of the highest honors in the fields of health, science and medicine.

No one wanted to miss Dr. Marks’ Keynote Address: Taking Gene Therapy to the Next Level, on Friday, February 24, 2023 at 7:30 AM EST, at the 19th Annual WORLDSymposium in Orlando, Florida.

WORLDSymposium 2024 New Treatment Award

2023 New Treatment Award WORLDSymposium
Chester B. Whitley, Bill Sibold, Monica Kumar, Alaa Hamed, Shannon Resetich, Paul Hudson

WORLDSymposium strives to recognize important achievements in therapy for lysosomal diseases for treatments attaining regulatory approval. In recognition of achieving major milestones, WORLDSymposium reviews potential recipients for the New Treatment Award in 2023. This award honors “new treatments” that are viewed as providing value to patients with lysosomal diseases, and general acceptance as evidenced by approval by the U.S. Food and Drug Administration, European Medicines Agency, and other regulatory authorities.

The WORLDSymposium New Treatment Award for 2023 was presented to Sanofi for olipudase alfa-rpcp (Xenpozyme™) which provided clinical data meriting approval by the U.S. Food and Drug Administration (FDA) as the first disease-specific treatment of non-central nervous system (non-CNS) manifestations of acid sphingomyelinase deficiency (ASMD) in adult and pediatric patients. The New Treatment Award was presented on Saturday, February 25, 2023, at 7:45 AM EST, followed by a full day of Contemporary Forum abstract presentations.

William A. Gahl, MD, PhD Received the 2023 Roscoe O. Brady Award

View Dr. Gahl’s scientific presentation Pursuing Advances in Rare and Undiagnosed Diseases on YouTube.

Dr. Gahl is the Director of the Undiagnosed Diseases Program, a Senior Investigator in the Medical Genetics Branch and the Head of the Human Biochemical Genetics Section of the National Human Genome Research Institute (NHGRI).

Dr. Gahl’s research has focused on the natural history of rare metabolic disorders and the discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies of the lysosomal membrane transporters that carry cystine and sialic acid, respectively, out of the lysosome.

Dr. William A. Gahl graduated from the Massachusetts Institute of Technology and earned his M.D. and Ph.D. from the University of Wisconsin. He served as pediatric resident and chief resident at the University of Wisconsin hospitals and completed clinical genetics and clinical biochemical genetics fellowships at the NIH. Dr. Gahl elucidated the basic defects in cystinosis and Salla disease and helped bring cysteamine to new drug approval by the Food and Drug Administration as the treatment for cystinosis.

He has published over 650 papers, reviews, book chapters, and editorials, trained 42 biochemical geneticists and cultivated international experts in Hermansky-Pudlak syndrome, alkaptonuria, Oculocerebrorenal Syndrome of Lowe, Menkes disease, Congenital Disorders of Glycosylation, Griscelli Syndrome, Gray Platelet Syndrome, Joubert Syndrome, polycystic kidney disease and other ciliopathies, Hutchinson-Gilford Progeria, GNE myopathy, oculocutaneous albinism, sialuria, and free sialic acid storage disorders. His group identified the genes responsible for Hartnup disease, Gray Platelet Syndrome, two types of renal Fanconi syndrome, 3-methylglutaconic aciduria type III, a new neutrophil defect, and many other disorders.

In 2008, he established the NIH Undiagnosed Diseases Program (UDP), which has made more than 350 rare disease diagnoses and discovered 30 new genetic diseases. Dr. Gahl expanded the UDP to a national Undiagnosed Diseases Network and a worldwide Undiagnosed Diseases Network International. He established American Board of Medical Specialties certification for medical biochemical genetics. Dr. Gahl received the Dr. Nathan Davis Award for Outstanding Government Service from the AMA, the Service to America Medal in Science and the Environment, the EURORDIS Lifetime Achievement Award, and numerous other awards. In 2019, he was elected to the National Academy of Medicine.

Congratulations to Dr. Gahl from the entire WORLDSymposium audience! Dr. Gahl received the 2023 Roscoe O. Brady Award on Wednesday, February 22, 2023 at 7:30 AM EST, and this was followed by Dr. Gahl’s scientific presentation Pursuing Advances in Rare and Undiagnosed Diseases (view on YouTube).

WORLDSymposium registration is restricted to persons age 18 years and over only. This includes all Scientific Sessions and the Exhibit Hall.

The Registration Desk, located in the Palm Foyer on the Second Level of the Manchester Grand Hyatt San Diego, will be open during these times:

Sunday, February 4, 12:00 PM - 6:00 PM
Monday, February 5, 6:00 AM - 5:15 PM
Tuesday, February 6, 6:00 AM - 5:15 PM
Wednesday, February 7, 6:00 AM - 5:15 PM
Thursday, February 8, 6:00 AM - 5:15 PM
Friday, February 9, 7:30 AM - 10:00 AM

Appropriate dress is business casual. Please dress appropriately whenever attending in person session or appearing on pre-recorded or live video for presentations or when in video meetings.

Registration and attendance at, or participation in, WORLDSymposium Scientific Sessions and other related activities, constitutes an agreement by the registrant to permit WORLDSymposium use and distribution (both now and in the future) of the registrant or attendee’s image or voice in photographs, videotapes, electronic reproductions, audiotapes of such events and activities.

Attendees may take photos or screen captures of posters ONLY if the poster author agrees. Authors who do not want their posters to be photographed or screen captured will have to indicate as such on their posters. No other photography, or audio or video recording is allowed. Attendees who photograph or record poster information for which they have not obtained permission will be asked to leave the session immediately.

Taking photos, videos or audiotapes of slides, posters and presenters or questions and answers is strictly prohibited unless prior written permission is obtained from the presenter. Copyright and intellectual property law is observed during all WORLDSymposium presentations, sessions and events.

Attendees and media registrants are required to abide by any recording, photography, or screen capture requests made by speakers at any WORLDSymposium event. Photography and recording for personal reference is allowed. However, attendees and media registrants may not share or republish any materials from WORLDSymposium events, including but not limited to slides, unpublished data, or presentation materials, without explicit written permission from the presenter and WORLDSymposium. 

Poster Photo Policy: Attendees may take photos of posters ONLY if the poster author agrees. Authors who do not want their posters to be photographed will have to indicate as such on their posters. No other photography, or audio or video recording is allowed. Attendees who photograph or record poster information for which they have not obtained permission will be asked to leave the session immediately.

This policy aims to encourage presentation of the latest findings by protecting researchers sharing unpublished information, as well as prevent disruption in the session rooms.

Attendees are also asked to be respectful of their colleagues by silencing all mobile devices before entering meeting rooms. When registering, you are required to agree that you will adhere to this policy.

No.  There is no additional fee to attend the The Patient Voice: Is Anyone Listening? session, or the Robert J. Gorlin Symposium: Beyond the Blood Brain Barrier.