Lysosomal Storage Diseases
Lysosomal storage diseases are a group of rare disorders caused by deficiencies in enzymes that are meant to break down and recycle materials in cells. These deficiencies result in a buildup of materials that eventually become toxic, killing the cells, and leading to a wide variety of symptoms.
Many of the over 50 identified lysosomal storage diseases have no approved therapies, though research is underway to find potential cures, including the use of gene editing.
In 2002, Genzyme, a pharmaceutical firm based in Boston, funded the development of a documentary film, “Diagnosing MPS Type 1,” which features narrations from Dr. Gregory Pastores, Associate Professor of the Departments of Neurology and Genetics and Pediatrics at New York University Langone Medical Center. The film was accredited by NYU’s Post Graduate School of Medicine in 2005 for continuing medical education (CME) credit.
Following that project, GeneticaLens also created a documentary on Gaucher disease, another rare genetic disorder in the lysosomal storage disease group. Genzyme also funded this project, which was narrated by Dr. Edwin H. Kolodny, Bernard A. and Charlotte Marden Professor of Neurology at NYU Langone Medical Center. GeneticaLens also filmed and edited another CME, The Diagnosis and Management of MPS-II (Hunter syndrome), which was sponsored by NYU’s Post Graduate School and funded by Shire Human Genetic Therapies. This web based documentary was also narrated by Dr. Gregory Pastores and was accredited by NYU’s Post Graduate School of Medicine for CME credit.
Many of the over 50 identified lysosomal storage diseases have no approved therapies, though research is underway to find potential cures, including the use of gene editing.
In 2002, Genzyme, a pharmaceutical firm based in Boston, funded the development of a documentary film, “Diagnosing MPS Type 1,” which features narrations from Dr. Gregory Pastores, Associate Professor of the Departments of Neurology and Genetics and Pediatrics at New York University Langone Medical Center. The film was accredited by NYU’s Post Graduate School of Medicine in 2005 for continuing medical education (CME) credit.
Following that project, GeneticaLens also created a documentary on Gaucher disease, another rare genetic disorder in the lysosomal storage disease group. Genzyme also funded this project, which was narrated by Dr. Edwin H. Kolodny, Bernard A. and Charlotte Marden Professor of Neurology at NYU Langone Medical Center. GeneticaLens also filmed and edited another CME, The Diagnosis and Management of MPS-II (Hunter syndrome), which was sponsored by NYU’s Post Graduate School and funded by Shire Human Genetic Therapies. This web based documentary was also narrated by Dr. Gregory Pastores and was accredited by NYU’s Post Graduate School of Medicine for CME credit.
