National Institutes of Health
Paul Plotz, M.D., Nina Raben, M.D., Ph.D.
Nina Raben, M.D., Ph.D., NIH Research Chemist, visited the Netherlands to collaborate with Dr. Arnold Reuser on genetic mutationsA change in a gene that can affect how it works. in AMD. They studied the presence of certain disease related mutations, how they affect the mechanisms of the acid maltase enzymeA protein that helps the body carry out chemical reactions., and how transfers are made within the cells. The NIH has developed a mouse modelA laboratory mouse used to study disease and test treatments before human trials. for Acid Maltase Deficiency. (April, 1997; updated June. 1998)
The NIH in conjunction with Tel Aviv University, Israel, published an abstract on gene therapyA developing treatment that aims to fix, replace, or add genetic instructions. relating to Type II GlycogenA stored form of sugar used for energy. Storage Disease or Acid Maltase Deficiency. It was published in:
Human Gene Therapy 8:1555-1563 (September 1, 1997).
“Retroviral Transfer of Acid a-Glucosidase cDNA to Enzyme-Deficient MyoblastsImmature muscle cells that can grow and develop into fully formed muscle fibers. In research, scientists often study myoblasts taken from patients to understand muscle disease and test treatments. Results in Phenotypic Spread of the Genotypic Correction by Both Secretion and Fusion”
See abstract-Zaretsky (September 1, 1997)