MURIEL
A 1957 graduate of Wellesley College, Muriel Isolde Kaiser was one of only four
women (and 74 men!) in the 1961 class of The Johns Hopkins University School of
Medicine. Immediately upon graduation, she began a Johns Hopkins University
Hospital residency in pediatrics that would eventually lead to her becoming one
of the world's foremost researchers into genetic disorders of the eye. As
Representative Chris Van Hollen stated, by "focusing on patients whose vision
loss is associated with having inborn errors of metabolism, Dr. Kasier-Kupfer's
work changed the world of those who benefited from her cutting-edge research."
As a newly minted pediatrician who frequently saw young children with genetic
diseases of the eye, she soon grew impatient with simply diagnosing–and not
being able to treat the illnesses. As a medical scientist, she was determined to
develop new knowledge about the causes. And as a clinician, she longed to apply
what she learned to improve the eyesight of the visually impaired of all ages.
Recently retired as Chief, Ophthalmic Genetics and Visual Function Branch,
National Eye Institute, which she joined in 1972, Kaiser was nominated to be a
Local Legend of Medicine by Rep. Chris Van Hollen (D-MD-8).
It was during a two-year residency at the University of Washington, in Seattle,
studying genetics and ophthalmology (and meeting Carl Kupfer, M.D., who would
become her husband), that Kaiser laid the groundwork for her future success in
two especially difficult diseases: gyrate atrophy, a degenerative disease of the
retina, and cystinosis.
Left untreated, gyrate atrophy usually results in severe visual disability and
legal blindness by middle age. In 1977, Kaiser and her associates began an 18-year
study of two families, each with two children suffering from gyrate atrophy,
which would link the disease to an enzyme deficiency and demonstrate that its
progression could be significantly retarded through a special diet.
Kaiser reached a significant scientific milestone in 1987 when she described, in
the New England Journal of Medicine, a procedure to remove the crystals in the
cornea by administering topical cysteamine eye drops in patients with
nephropathic cystinosis, a genetic disorder in which cystine crystals accumulate
in organs and tissues throughout the body.
In the eye, these crystalline deposits induce many symptoms including severe
pain and discomfort sometimes so incapacitating that patients cannot open their
eyelids. Her collaboration with Dr. William Gahl of the National Institute of
Child Health and Development led to the successful cystinosis treatment and in
1990 she was recognized by the Cystinosis Foundation with its Lifetime
Achievement Award.
Author or co-author of more than 100 scientific papers, Kaiser was encouraged
from the start by her family to reach for the highest rung. By linking her
findings in the laboratory to treatment in the clinic, she was able to touch the
lives of countless children and adults through her many distinguished scientific
contributions to the understanding of the eye, its diseases and disorders.
A 1957 graduate of Wellesley College, Muriel Isolde Kaiser was one of only four
women (and 74 men!) in the 1961 class of The Johns Hopkins University School of
Medicine. Immediately upon graduation, she began a Johns Hopkins University
Hospital residency in pediatrics that would eventually lead to her becoming one
of the world's foremost researchers into genetic disorders of the eye. As
Representative Chris Van Hollen stated, by "focusing on patients whose vision
loss is associated with having inborn errors of metabolism, Dr. Kasier-Kupfer's
work changed the world of those who benefited from her cutting-edge research."
As a newly minted pediatrician who frequently saw young children with genetic
diseases of the eye, she soon grew impatient with simply diagnosing–and not
being able to treat the illnesses. As a medical scientist, she was determined to
develop new knowledge about the causes. And as a clinician, she longed to apply
what she learned to improve the eyesight of the visually impaired of all ages.
Recently retired as Chief, Ophthalmic Genetics and Visual Function Branch,
National Eye Institute, which she joined in 1972, Kaiser was nominated to be a
Local Legend of Medicine by Rep. Chris Van Hollen (D-MD-8).
It was during a two-year residency at the University of Washington, in Seattle,
studying genetics and ophthalmology (and meeting Carl Kupfer, M.D., who would
become her husband), that Kaiser laid the groundwork for her future success in
two especially difficult diseases: gyrate atrophy, a degenerative disease of the
retina, and cystinosis.
Left untreated, gyrate atrophy usually results in severe visual disability and
legal blindness by middle age. In 1977, Kaiser and her associates began an 18-year
study of two families, each with two children suffering from gyrate atrophy,
which would link the disease to an enzyme deficiency and demonstrate that its
progression could be significantly retarded through a special diet.
Kaiser reached a significant scientific milestone in 1987 when she described, in
the New England Journal of Medicine, a procedure to remove the crystals in the
cornea by administering topical cysteamine eye drops in patients with
nephropathic cystinosis, a genetic disorder in which cystine crystals accumulate
in organs and tissues throughout the body.
In the eye, these crystalline deposits induce many symptoms including severe
pain and discomfort sometimes so incapacitating that patients cannot open their
eyelids. Her collaboration with Dr. William Gahl of the National Institute of
Child Health and Development led to the successful cystinosis treatment and in
1990 she was recognized by the Cystinosis Foundation with its Lifetime
Achievement Award.
Author or co-author of more than 100 scientific papers, Kaiser was encouraged
from the start by her family to reach for the highest rung. By linking her
findings in the laboratory to treatment in the clinic, she was able to touch the
lives of countless children and adults through her many distinguished scientific
contributions to the understanding of the eye, its diseases and disorders.