Jacob's Cure
From WikiGenetics
Contents |
[edit] Background
Jacob’s Cure is a 501c3 non-profit foundation dedicated to raising the funds necessary to cure Canavan disease, a fatal genetic brain disorder that affects children at birth. Because of an enzyme deficiency, an acid in the brain accumulates to dangerous levels causing catastrophic effects to the normal formation of myelin (white matter) in the brain that is responsible for transmitting nerve impulses from one part of the body to another. It is the lack of white matter that leaves Canavan children incapable of performing the simplest functions. Even if they live to their full life expectancy – 3 to 10 years – they become blind, paralyzed, prone to seizures…and increasingly lost to the world around them.
Since its inception in September 2000, Jacob’s Cure proudly allocates monies raised to research in gene-therapy, stem cell transplantation, pharmacological approaches and basic science in understanding the disease. Our efforts to date have resulted in successful gene-therapy trials and pharmaceutical interventions that have, in most cases, stopped the progression of this quickly deteriorating disorder in Canavan children worldwide. In fact, some of our groundbreaking work has led to trials for more commonly known disorders such as Parkinson’s, MS and ALS.
Our goal is now the cure. In collaboration with several research labs and the biotech industry, our efforts and funding are moving research towards an exciting stem cell clinical trial for Canavan children worldwide.
[edit] The Canavan Research Lab
Jacob's Cure provides funding for the Canavan Research Lab at the Cell & Gene Therapy Center at UMDNJ/SOM under the direction of Dr. Paola Leone.
[edit] About the Cell & Gene Therapy Center
The Cell & Gene Therapy Center ("CGTC") was founded in 2001 at Cooper Hospital and UMDNJ-Robert Wood Johnson Medical School, as a combined clinical and basic research facility. As part of the Division of Neurosurgery, the focus of our work is on neurological diseases that can be treated using the latest gene transfer technologies and cell transplantation methods. CGTC is a "translational" research facility, which means that we bring discoveries from the laboratory bench directly to the clinical setting.
The CGTC aims to identify potential therapeutic avenues arising from the characterization of models of human neurological diseases. The translation of basic research into therapy requires the investigation of disease mechanisms at multiple levels, ranging from the molecular to the behavioral. Investigators at the CGTC therefore adopt a multidisciplinary approach to the study of diseases of the brain and employ a wide range of laboratory techniques in this process.
Cooper Hospital and UMDNJ are hosting a NIH-sponsored Phase I/II study on Gene Therapy for Canavan Disease, in collaboration with Children’s Hospital of Philadelphia and The University of North Carolina, Chapel Hill, under a major grant from the National Institute for Neurological Diseases and Stroke (NINDS). This clinical trial represents the first use of adeno-associated viral vectors (AAV) in the human brain, as well as the first viral gene therapy for a neurodegenerative disorder.
[edit] About Dr. Leone
Dr. Paola Leone is an Associate Professor of Neurosurgery and Director of the Cell & Gene Therapy Center (CGTC). As Principal Investigator at UMDNJ-Robert Wood Johnson Medical School for Gene Therapy for Canavan Disease, she leads all research activities at UMDNJ and the affiliated centers. Her research interests have included in vivo neurochemistry of epilepsy and gene transfer approaches for the treatment of neurological disorders. She has published extensively in the field of CNS gene therapy and conducted the first direct gene therapy trial using a liposome-based vector for a pediatric neurodegenerative disorder. In addition to applications of viral vectors and stem cells, Dr. Leone is studying pharmacological approaches in humans and in animal models of Canavan Disease, Amyotrophic Lateral Sclerosis, Tay Sach’s and other neurological disorders.
[edit] Website
Jacob's Cure - A Fight Against Canavan Disease
[edit] Recommended Sites
- Canavan Research Foundation
- Canavan Research Illinois
- Canavan Foundation
- Jewish Genetic Disease Consortium
- The New York Stem Cell Foundation
- Genetic Disease Foundation
- National Organization for Rare Disorders (NORD)
- National Tay Sachs & Allied Diseases Association
- National Tay Sachs & Allied Diseases Association of the Delaware Valley
- United Leukodystrophy Foundation
- The Children's Rare Disease Network
- U.S. Rare Disease Day
- Global Genes Project
