Stuart A. Kornfeld, MD received the 2022 Roscoe O. Brady Award for Innovation and Accomplishment
Stuart A. Kornfeld, MD, is the David C. and Betty Farrell Professor of Medicine at Washington University in St. Louis. He is best known for his contributions to the field of glycoprotein research – the study of how sugars are attached to proteins and the roles these molecules play in cellular function. His lab was instrumental in elucidating the pathway for the biosynthesis of the Mannose 6-phosphate moieties on lysosomal hydrolases. These residues serve as recognition molecules for the delivery of newly synthesized hydrolases to lysosomes. Defects in this pathway give rise to the lysosomal diseases mucolipidosis II and III. This glycoprotein receptor-mediated uptake of enzymes is the basis for ‘cross-correction’, the underpinning mechanism of all lysosomal enzyme replacement therapies.
Dr. Kornfeld is a graduate of Dartmouth College and received his MD degree from Washington University. He did postgraduate training at Barnes Hospital and later at the National Institutes of Health. He has received numerous awards for his research contributions, including the E.B. Wilson Medal from the American Society for Cell Biology, the Passano Award and the Kober Medal from the Association of American Physicians. He is an elected member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences.
The 2022 Roscoe O. Brady Award was presented on Monday, February 7, 2022 at 7:30 AM PST, followed by a scientific presentation from Dr. Kornfeld Dissecting the Mannose 6-Phosphate Pathway – A Key to Understanding Lysosomal Enzyme Trafficking.
Sue Kahn received the WORLDSymposium™ 2022 Patient Advocate Leader (PAL) Award
Sue Kahn is a leader known for her business acumen and ability to build relationships, collaborate, and drive research at one of the oldest and most respected patient advocacy groups in the rare disease community. For 14 years, Sue has served as the Executive Director of the National Tay-Sachs & Allied Diseases Association (NTSAD) that supports families affected by Tay-Sachs, Canavan, GM1, and Sandhoff.
Since 2007, Sue has used her industry business development experience to broaden NTSAD’s network of industry leaders, scientists, and clinicians, thereby deepening NTSAD’s commitment to multi-faceted collaborations, including the Tay-Sachs Gene Therapy Consortium. In her role Sue has shepherded NTSAD’s investment of more than $4 million in research grants that have been leveraged to more than $30 million in additional grants from the National Institutes of Health and other institutions.
Under Sue’s leadership, NTSAD is on the cusp of having effective treatments for the patients affected by the four diseases that NTSAD represents. Currently, there are 14 drug development programs and clinical trials underway, and industry continues to invest in developing therapies. Sue ensures that the patients’ voices and experiences are heard and incorporated into these programs.
In addition, Sue has grown the organization’s assets, staff, and program offerings, including comprehensive resources, programs, and services for families. Recently, Sue led the process to broaden NTSAD’s research direction to focus on clinical development, early diagnosis, newborn screening, and translational research. These programs will be advanced with the hiring of NTSAD’s first Research Director.
Sue earned her bachelor’s degree in applied mathematics–economics from Brown University and was granted an MBA from the Tuck School of Business at Dartmouth College. Prior to joining NTSAD, Sue held business development and finance positions at Genzyme Genetics and Chiron Diagnostics. After years of volunteer service via non-profit consulting work through Community Consulting Teams (CCT) as well as a family connection to Tay-Sachs disease, Sue was inspired and fortunate to join the rare disease patient advocacy world.
The 2022 Patient Advocate Leader Award was presented at 7:30 AM PST on Tuesday, February 8, 2022, at the 18th annual WORLDSymposium in San Diego, California.
TIPPI MACKENZIE, MD – KEYNOTE SPEAKER ON WEDNESDAY, FEBRUARY 9, 2022
Tippi MacKenzie is a Professor of Surgery at the University of California, San Francisco and the Director of the Eli and Edythe Broad Institute for Regeneration Medicine. She is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth. She runs a translational research lab examining fetal immunology and maternal-fetal tolerance, with the ultimate goal of inventing new fetal therapies for patients with genetic diseases or pregnancy complications. She has moved two fetal molecular therapies from the lab to the clinic as phase 1 clinical trials after obtaining FDA approval: in utero hematopoietic stem cell transplantation to treat fetuses with alpha thalassemia and in utero enzyme replacement therapy in fetuses with lysosomal storage disorders.
Her research has been supported by the National Institutes of Health, the March of Dimes, the California Institute for Regeneration Medicine, and the Burroughs-Wellcome Fund. Tippi has been awarded the Jacobson Award by the American College of Surgeons for her innovative work and is a member of the American Society for Clinical Investigation.
Tippi trained in classical piano at Juilliard before obtaining her undergraduate degree from Harvard College and her medical degree from Stanford University. She completed her surgical residency at Brigham and Women’s Hospital in Boston and obtained additional fellowships in Fetal Surgery and Pediatric Surgery at the Children’s Hospital of Philadelphia. She joined the faculty at the University of California, San Francisco in 2007 and is now a Professor of Surgery. She recently co-founded the Center for Maternal-Fetal Precision Medicine, with the aim of accelerating the processes that link basic research to clinical trials to improve maternal, fetal, and neonatal health. This Center is testing methods to improve prenatal diagnosis of birth defects and developing new cellular and molecular therapies for definitive fetal treatment.
Dr. MacKenzie’s Keynote Address Prenatal enzyme replacement therapy for lysosomal disorders: Launching a phase I clinical trial was presented at 7:30 AM PST on Wednesday, February 9, 2022, at the 18th Annual WORLDSymposium in San Diego, California.
WORLDSymposium 2022 NEW TREATMENT AWARD
Sanofi Genzyme
avalglucosidase alfa-ngpt
JCR Pharmaceuticals
pabinafusp alfa
WORLDSymposium 2022 recognized two important achievements in therapy for lysosomal diseases for attaining regulatory approval. The WORLDSymposium 2022 New Treatment Award was presented to Sanofi Genzyme for avalglucosidase alfa-ngpt (Nexviazyme®) which provided clinical data meriting approval by the U.S. Food and Drug Administration (FDA), and to JCR Pharmaceuticals for pabinafusp alfa (IZCARGO®), which provided clinical data meriting approval by the Ministry of Health, Labour and Welfare (MHLW) in Japan. WORLDSymposium 2022 New Treatment Award were presented on Thursday, February 10, 2022, at 7:30 AM followed by a full day of Contemporary Forum abstract presentations.
2022 YOUNG INVESTIGATOR AWARDS presented February 8th
2022 Young Investigator Award Winners
- Tierra Bobo, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA
- Jillian Gallagher, University of Massachusetts Medical School, Worcester, Massachusetts, USA
- Ik Hui Kho, McGill University, Montreal, Ontario, Canada
- Oriana Mandolfo, The University of Manchester, Manchester, United Kingdom
- Travis Moore, Sainte-Justine Research Center, Montreal, Ontario, Canada
- Sireesha Murala, Duke University Medical Center, Durham, North Carolina, USA
- Marya Sabir, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
- Linda Scheffers, Erasmus Medical Center, Rotterdam, Netherlands
- Mahsa Taherzadeh, McGill University, Montreal, Ontario, Canada
- Fiona Weaver, McMaster University, Hamilton, Ontario, Canada