NTSAD has hosted six scientific meetings since NTSAD's Research Initiative was launched in 2002. They have been held in conjunction with our Annual Family Conference.
Mechanisms and Interventions in Childhood
This Symposium topic reflected the progress in the last 50+ years and the excitement about therapies in the future. The theme was inspired because brain gene therapy and other interventions are on the brink of being translated from animal models to human clinical trials. The scientific questions addressed included the role of inflammation in neurodegenerative diseases, methods available to penetrate the blood brain barrier and strategies for advancing potential therapies to clinical trials. This meeting was made possible thanks to educational grant support by Shire, Genzyme Corporation, Pfizer, Inc., Amicus Therapeutics and The Mathew Forbes Romer Foundation.
Presenters included eight past and current NTSAD Research Initiative and LSD Research Consortium grantees. The meeting goal was to examine new approaches in treating the central nervous system in the Lysosomal Storage Diseasess, including potential use of combination therapies. Presenters gave updates about their projects funded with the support of NTSAD. The therapeutic approaches discussed included gene therapy, stem cell and small molecules.
Scientific Workshop, Glycosphingolipids in Health and Disease
The purpose of the workshop was to bring together scientists working in the fields of glycosphingolipid function in normal development with investigators interested in the pathogenesis of glycosphingolipid storage disorders. The workshop alsoÂ addressed the approaches to therapy with the primary goal to review recent developments in the field and to identify research priorities and resources that will lead to successful therapies for these devastating diseases. The meeting was sponsored by the National Institute of Neurological Disease and Stroke and the Office of Rare Diseases of NIH, in collaboration with NTSAD.
Third Summit of the Allied Disease: The Gangliosidoses -
Past, Present and Future
Scientists presented an overview of glycosphingolipid biology, a historical perspective of population genetics, clinical perspective of evaluation, diagnosis and disease management, the relationship between patient/family with physician, genetic counseling and the role of the patient advocacy organization in the physician's practice. Patients and family also had the opportunity to share their experiences with infantile Tay-Sachs, GM-1, Juvenile Sandhoff and Late Onset Tay-Sachs. The meeting culminated with a discussion of treatment options today and in the future. The meeting was in collaboration with Tulane University Health Sciences Center and Louisiana State University Health Sciences Center.
Second Summit of the Allied Diseases: Technology for
Genetic Diseases of the CNS
The Second Summit of the Allied Diseases brought NTSAD's philosophy of collaboration and inclusiveness to biotech pharmaceutical companies. StemCells Inc, PTC Therapeutics, Amicus Therapeutics, LysoPlex and Genzyme Corporation shared their translational research developments. Attendees discussed the role of patient advocacy groups.
Summit Meeting of the Allied Diseases
In 2002 NTSAD marked its 45th anniversary year as the oldest genetic disease organization in the nation by bringing together leaders of the genetic disease community: clinicians, researchers, educators and patient advocacy groups to discuss the most recent developments in the field and to explore how to best advance the study and treatment of these rare disorders. The summit meeting provided attendees with the opportunity to learn, to network and to consider ways in which we might work together to coordinate and consolidate our efforts in areas such as clinical care, genetic testing, research, therapy and advocacy.