2018 WORLDSymposium MEETING HIGHLIGHTS
Mark E. Haskins, VMD, PHD Received 2018 Roscoe O. Brady Award for Innovation and Accomplishment
Dr. Haskins has a career that spans over 40 years, from his beginning as a NIH Medical Genetics Trainee in 1975 working on MPS VI, through his appointment as Professor Emeritus in 2014. His career in lysosomal disease research has been focused on the MPS diseases. His research has been conducted at the University of Pennsylvania, which he has helped to make a preeminent center of large animal model work in the area of lysosomal diseases. He is known as one of the most collaborative, innovative, and successful researchers in the field. His research in large animal models ran a parallel course to the important developments in the basic cell and molecular biology of lysosomal diseases from the 1970s to the 1990s. When the foundations in biochemistry and molecular genetics in lysosomal disease made the prospects of therapy possible beginning in the 1990s, Dr. Haskins’ leadership in the preservation, development, and elucidation of dozens of large animal models, meant that models were ready to be used to help advance treatment development for patients. He has collaborated in a meaningful way with numerous ground-breaking researchers in the field both nationally and internationally. Over several decades he has participated in and helped lead critical work on pathogenesis and therapies including bone marrow transplantation, enzyme replacement therapy, novel medical therapy and gene therapy. He has been an active mentor of all levels of students including undergraduates, graduates, residents, post-docs and junior faculty. Dr. Haskins has also served in important capacities in multiple advocacy and research funding organizations, including the National MPS Society and the National Tay-Sachs and Allied Disease foundations.
Dr. Haskins received the 2018 award at the opening session of WORLDSymposium 2018 on Tuesday, February 6, 2018 at 7:45 AM.
Jack Johnson Received 2018 Patient Advocate Leader Award
Each year, WORLDSymposium recognizes one individual for patient advocacy leadership in the field of lysosomal disease. The 2018 Patient Advocate Leader (PAL) award will be presented to Jack Johnson, founder of the Fabry Support & Information Group.
Jack is a founding member and Executive Director of the Fabry Support & Information Group (FSIG) in the United States, and is also a founding member and Vice President and Board Member of the Fabry International Network (FIN). It is the mission of the Fabry Support & Information Group to provide the Fabry community and the general public with information, advocacy, education, and compassionate support to improve the quality of life and the quality of care for Fabry patients and family members. Jack’s active role in the Fabry community on a national and international level has helped not only increase awareness for Fabry disease, but also has directly benefitted numerous people who have been diagnosed with Fabry disease. Jack is able to bring his own experiences as a Fabry patient to his international advocacy work. Jack is a tireless advocate, and continues to champion patient meetings, fundraisers, and awareness activities for people affected by Fabry disease.
WORLDSymposium honored Jack with the 2018 Patient Advocate Leader Award on Wednesday, February 7, 2018 at 7:45 AM prior to the start of the Translational Research presentations at WORLDSymposium 2018.
Petra Kaufmann, MD, MSc delivered Keynote on Wednesday, February 7, 2018
Petra Kaufmann is director of the NCATS Office of Rare Diseases Research. Her work includes overseeing the Rare Diseases Clinical Research Network program, Genetic and Rare Diseases Information Center, and the NCATS Toolkit for Patient-Focused Therapy Development. Kaufmann focuses on engaging a broad range of rare diseases research stakeholders to accelerate translation from discovery to health benefits through use of innovative methods and tools.
Before joining NCATS, Kaufmann was the director of the Office of Clinical Research at the National Institute of Neurological Disorders and Stroke (NINDS), where she worked with investigators to plan and execute a large portfolio of clinical research studies and trials in neurological disorders, including many in rare diseases. She established NeuroNEXT, a trial network for Phase II trials using a central institutional review board, streamlined contracting, active patient participation in all project phases, and a scientific and legal framework for partnership with industry. Kaufmann also promoted data sharing, working with multiple stakeholders from the academic, patient organization and industry sectors to develop data standards for more than 10 neurological diseases.
A native of Germany, Kaufmann earned her MD from the University of Bonn and her MSc in biostatistics from Columbia University’s Mailman School of Public Health. She completed an internship in medicine at St. Luke’s/Roosevelt (now part of Mt. Sinai) in New York City, training in neurology and clinical neurophysiology at Columbia University, and a postdoctoral fellowship in the molecular biology of mitochondrial diseases at Columbia’s H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases. Before joining NINDS, Kaufmann was a tenured associate professor of neurology at Columbia, where she worked as a researcher and clinician in the neuromuscular division, the electromyography laboratories and the pediatric neuromuscular clinic.
She has served on scientific advisory committees for many rare disease organizations and is a member of the American Academy of Neurology Science Committee, the International Rare Disease Research Consortium Interdisciplinary Scientific Committee and the Clinical Trial Transformation Initiative Steering Committee.
Kaufmann is board certified in neurology, neuromuscular medicine and electrodiagnostic medicine. She currently sees patients in the Muscular Dystrophy Association Clinic at Children’s National Medical Center in Washington, DC.
Dr. Kaufmann delivered the Keynote Address at WORLDSymposium 2018 on Wednesday, February 7, 2018 at 8:00 AM.
R. Rodney Howell, MD Delivered Keynote on Thursday, February 8, 2018
R. Rodney Howell, MD is Professor of Pediatrics and a Member of the Hussman Institute for Human Genomics, at the Miller School of Medicine of the University of Miami. He is certified by the American Board of Pediatrics and the American Board of Medical Genetics in the area of Clinical Biochemical Genetics.
Dr. Howell received the Lifetime Achievement Award from the Duke University Medical Alumni Association, the Lifetime Achievement Award of the American College of Medical Genetics Foundation, and the Lifetime Achievement Award in Genetics from the March of Dimes. To commemorate the 30th anniversary of the Federal Rare Disease Act, he was named one of the 30 Rare Disease Heroes by the U. S. Food and Drug Administration. In 2015, Dr. Howell was the first recipient of the Advocacy Award from the American Society of Human Genetics for his excellence and achievement in the applications of human genetics.
Dr. Howell was the Founding Chair (2004-2011) of the Advisory Committee of Heritable Disorders in Newborns and Children, the congressionally-mandated Committee that advises the Secretary of HHS on issues concerning newborn screening and the Recommended Uniform Newborn Screening Panel (RUSP). Dr. Howell has served as Chairman of the Muscular Dystrophy Association Board of Directors since 2007. He was elected President of the International Society of Neonatal Screening, based in The Netherlands, in 2016.
Dr. Howell delivered the Keynote Address at WORLDSymposium 2018 on Thursday, February 8, 2018 at 7:45 AM.
New Treatment Awards
In recognition of achieving major milestones, WORLDSymposium honors “new treatments” that were 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. Two new treatments were recognized with the WORLDSymposium 2018 New Treatment Award:
Cerliponase alfa (Brineura™, BioMarin)
On April 27, 2017, cerliponase alfa (Brineura™, BioMarin) became the first approved treatment for CLN2, (a form of Batten disease), by the U.S. Food and Drug Administration. It is indicated to slow the loss of ambulation in symptomatic pediatric patients 3 years of age and older, with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency. CLN2 disease is an ultra-rare and rapidly progressing brain disorder that affects an estimated 20 children born in the United States each year – less than one in a million Americans. Notably, cerliponase alfa is the first enzyme replacement therapy to be directly administered into the cerebrospinal fluid of the central nervous system. It is aimed at treating the underlying cause of CLN2 disease by replacing the deficient TPP1 enzyme missing in affected children.
Vestronidase alfa (MEPSEVII™, Ultragenyx)
On November 15, 2017, the U.S. Food and Drug Administration approved vestronidase alfa (MEPSEVII™, Ultragenyx) to treat pediatric and adult patients affected with mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is an extremely rare, progressive condition that affects most tissues and organs.
WORLDSymposium presented the New Treatment Awards on Monday, February 5, 2018, at 5:15 PM in the Harbor Foyer, followed by the Opening Reception in the Exhibit Hall.
YOUNG INVESTIGATOR AWARDS
Congratulations to the ten individuals selected to receive the WORLDSymposium Young Investigator Award for 2018. The award was a partial scholarship towards attendance at WORLDSymposium 2018. Numerous individuals submitted an application for the award, and the review process was difficult due to the excellent caliber of all the applicants. WORLDSymposium would like to congratulate all of the applicants for their hard work. The following individuals received the WORLDSymposium Young Investigator Award for 2018 and were recognized at the Award Ceremony and Opening Reception on Monday, February 5 at 5:15 PM in the Harbor Foyer:
- Rebecca Ahrens-Nicklas
- Natalia Gomez-Ospina
- Zhirui Jiang
- Christina Mikulka
- Salvatore Molino
- Murtaza Nagree
- Yanyan Peng
- Roselena Schuh
- Jenny Serra Vinardell
- Nadav Weinstock