Research

For Immediate Release

Contact: Linda Cataldo, NORD, 203-746-6518

NORD Awards Over $300,000 In Lysosomal Storage Disease Research Grants

New Fairfield, CT, October 11, 2001. The National Organization for Rare Disorders (NORD) has awarded the first NORD Roscoe Brady Lysosomal Storage Disease (LSD) Fellowships, totaling $337,680, to five physician researchers from the U.S., Japan and Brazil. This year’s award winners will explore the causes of Fabry, Krabbe, Hunters, Gaucher (“go-shay”) and Tay-Sachs disease. Abbey Meyers, NORD’s president, says, “Our grant recipients will help solve the mysteries behind the genetic defects and enzyme deficiencies that lead to these orphan diseases.”

Lysosomal storage disorders are categorized by an abnormal build-up of various toxic materials in the body’s cells that affect the skeleton, brain, skin, heart, and central nervous system. People living with one of these genetic diseases may lose function in more than one system of the body with severe medical consequences and often shortened life spans. There are currently no effective treatments for the vast majority of these diseases.

Meyers says, “The NORD Roscoe Brady LSD Fellowship Program funds young scientists at the beginning of their medical careers and encourages them to specialize in lysosomal storage disorders.”

All grant recipients will work under the guidance of senior mentors in the fields of genetics and neuroscience. NORD also hopes that the fellowship program will entice established researchers to direct their attention to LSDs.

Million Dollar Gift Creates Fellowships

This spring, Transkaryotic Therapies (TKT), a Cambridge, Massachuetts biotechnology company dedicated to improving the lives of present and future generations by developing products to treat rare diseases, committed $1 million to NORD to encourage scientific research on lysosomal storage diseases. This extraordinary gift, together with additional support from Genzyme Corporation and individuals interested in LSD research, allowed NORD to create the Roscoe Brady LSD Fellowships. The Fellowships are named to honor Dr. Roscoe Brady, the scientist who discovered the metabolic basis of several lysosomal storage disorders and who pioneered effective enzyme replacement therapies for Fabry and Gaucher disease.

Dr. Brady is Chief of the Development and Metabolic Neurology Branch of the National Institute of Neurological Disorders and Stroke, and continues to pioneer our scientific understanding and treatment of these rare diseases.

Research Projects Receive Funding

NORD Roscoe Brady LSD Fellowship Program grants range between $50,000 and $70,000 and may be renewed for an additional year. This year’s awards will support the following research projects:

• Dr. Ainu Prakash-Cheng, assistant professor of human genetics at the Mount Sinai School of Medicine (New York) will define variations in structure, function and behavior displayed by the nervous systems of patients with Type 1 Gaucher disease (GD). Gaucher is the most prevalent of the 46 known lysosomal storage diseases.
  
  
• Dr. Makiko Yasuda, also from Mount Sinai, will study regulatory elements that control the defective gene that causes the enzyme deficiency identified with Fabry disease, hopefully generating information for potential gene therapies.
  
  
• Dr. Orit Neudorfer of New York University’s School of Neurogenetics Program will study the natural history and management of Late-Onset Tay-Sachs disease (LOTS). LOTS is a much rarer form of the disorder which occurs in patients in their twenties and early thirties. It is characterized by unsteadiness of gait and progressive neurological deterioration. Dr. Neudorfer will investigate various diagnostic models that will enable physicians to define the severity of the disease and, hopefully, assess the outcomes of various treatment strategies.
  
  
• Dr. Junko Matsuda of the University of Tokushima (Japan) will study genetically altered mice that carry the genes for Krabbe disease as well as pregnant mice whose fetuses carry the defective genes. In humans, Krabbe disease is characterized by mental retardation, paralysis, blindness, deafness and palsy. Dr. Matsuda’s goal is to define protective mechanisms of pregnancy that may correct the enzyme deficiency.
  
  
• Dr. Ida Schwartz, a scientist at Hospital de Clinicas de Porto Alegre, Brazil, will concentrate her research efforts on analyzing the biochemical and genetic characteristics of patients with Hunters disease, and of women who may be carriers of the disease. She seeks to find a correlation between the internally coded, inheritable information which programs the machinery of the cells, and the observable physical structure, function or behavior of people living with Hunters disease.
  
  

NORD’s Meyers says, “The studies of these scientists have a very real potential of significantly increasing our understanding of lysosomal storage diseases. Their research is critical to the development of therapies and treatments that will someday improve the lives of thousands of people with Lysosomal Storage Diseases. Thanks to the generosity of TKT and other donors, young researchers can make a contribution toward a better understanding of these orphan disorders.”

Inquiries regarding future funding opportunities may be directed to Linda Cataldo, National Organization for Rare Disorders (NORD) at (203) 746-6518 or by email: Lcataldo@rarediseases.org or visit NORD’s Web site at: www.rarediseases.org.