Two Mount Sinai Researchers Named “Inventors of the Year” by the New York Intellectual Property Law Association

June 28, 2013 – The New York Intellectual Property Law Association (NYIPLA) has honored two researchers at the Icahn School of Medicine at Mount Sinai with its 2013 Inventor of the Year Award in recognition of their work on Niemann-Pick Disease, or NPD.

The researchers are Edward H. Schuchman, PhD, Genetic Disease Foundation – Francis Crick Professor of Genetics and Genomic Sciences, and Robert J. Desnick, MD, Dean for Genetics and Genomic Medicine, Professor and Chairman Emeritus of Genetics and Genomic Sciences. They were recognized at the NYIPLA Annual Meeting Awards Dinner last month at the Princeton Club in New York.

Their discoveries led to a drug for the treatment of the disease; Dr. Schuchman and Dr. Desnick also discovered the genetic mutation causing the disease, and how to screen for it. Enzyme replacement therapy is currently under development in Phase II clinical trials.

The researchers were nominated on behalf of Mount Sinai Innovation Partners (Mount Sinai IP, formerly called the Office of Technology and Business Development) by William Chiang, PhD, who is now at the University of Medicine and Dentistry of New Jersey.  “Dr. Schuchman and Dr. Desnick are renowned experts in genetic diseases and have devoted their careers to understanding and finding treatments for these conditions,” said Dr. Chiang, formerly a Business Development Director at Mount Sinai IP. “This is a recognition of their discovery of the first treatment for Niemann-Pick Disease, an orphan disease where the patient’s cognitive and motor skills are severely impacted and leads to multiple complications.”

Dr. Schuchman’s clinical and research interests include the biology and treatment of lysosomal storage disorders and the role of lipid hydrolases in cell signaling.

“I am honored by this wonderful award and recognition of our efforts to develop improved diagnostics and treatment of this devastating disease,” said Dr. Schuchman.  “It is my sincerest hope that this work will provide benefit and relief to the families affected by Types A and B Niemann-Pick Disease.”

Dr. Desnick has been a human geneticist and pediatrician for more than 30 years, focusing on inherited metabolic diseases. At the Icahn School of Medicine at Mount Sinai, his research focuses on pharmacogentics, gene discovery for rare and common diseases, and the molecular genetics and treatment for lysosomal storage diseases and the inherited porphyrias.

“We are honored to receive this award in recognition of our efforts to develop an enzyme replacement therapy for patients suffering from Types A and B Niemann-Pick disease,” said Dr. Desnick.  “The clinical trials underway in Type B patients will determine the safety and effectiveness of this treatment, as there is no treatment currently available for this disease.”

Research into the cause and treatment of Types A and B Niemann-Pick Disease is conducted by the Niemann-Pick Disease Center at the Icahn School of Medicine at Mount Sinai.  Patients with NPD are welcome to visit with our team of experts for further evaluation.  For more information, visithttps://icahn.mssm.edu/research/programs/niemann-pick-disease-center.

About Mount Sinai Innovation Partners
Mount Sinai Innovation Partners (Mount Sinai IP), as part of the Icahn School of Medicine at Mount Sinai, facilitates the transfer of discovery from the laboratory to the marketplace, acting as the interface with commercial entities.

Formerly known as the Office of Technology and Business Development, Mount Sinai IP is responsible for the full spectrum of commercialization activities required to bring the Icahn School of Medicine’s inventions to life. These activities include evaluating, patenting, marketing, and licensing new technologies, while also negotiating agreements for sponsored research, material transfer, and confidentiality. Blue Mountain Technologies is an IP program to enhance distribution of, and product development based on, Mount Sinai’s growing portfolio of novel reagents, diagnostics, and therapeutics. For more information on Mount Sinai IP, visit https://ip.mountsinai.org.

About The Mount Sinai Medical Center
The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Icahn School of Medicine at Mount Sinai. Established in 1968, the Icahn School of Medicine at Mount Sinai is one of the leading medical schools in the United States. The Icahn School of Medicine is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty members in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by U.S. News & World Report.

The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nation’s oldest, largest and most-respected voluntary hospitals. In 2012, U.S. News & World Report ranked The Mount Sinai Hospital 14th on its elite Honor Roll of the nation’s top hospitals based on reputation, safety, and other patient-care factors. Mount Sinai is one of just 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and by U.S. News & World Report and whose hospital is on the U.S. News & World Report Honor Roll.  Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place.

For more information, visit https://www.mountsinai.org.
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