Dear Alumni and Friends:
The accomplishments of our outstanding program in genetic counseling, the result
of a long tradition of leadership in this field, are highlighted in the cover
story of this issue of Medicine at Michigan.
In 1941, the University of Michigan established a heredity clinic, the first
of its kind in the country, staffed by several faculty members, among them Harold
Falls (M.D. 1936, Residency 1939), then a young ophthalmologist who had become
interested in hereditary eye disease. At age 94, Harold is still going strong.
It was wonderful to see him at Reunion this past October, and to be reminded
of the many contributions he and his colleagues have made toward genetics and
genetic counseling at U-M and in the world.
The late James Neel, M.D., Ph.D., nationally and internationally recognized
as an important pioneer in the field of human genetics, was one of Falls’
fellow researchers, joining the Heredity Clinic in 1946. As Neel later wrote
in his book Physician to the Gene Pool, “Humans were not [viewed] as a
favorable object for genetic study. Their generation time was too long, they
had too few offspring, genetically interesting matings could not be arranged,
and they had so many chromosomes compared to the [fruit fly’s] four pairs
that establishing gene-linkage groups was bound to be difficult.” Nonetheless
our pioneering researchers undertook the challenge of human genetic study. As
the Heredity Clinic grew, it was followed in 1956 by the formation of the nation’s
first academic department of human genetics, with Neel as its chair.
The accomplishments of this Michigan group of faculty-physicians are legion.
For example, Jim and his colleagues deduced the relationship between sickle
cell anemia and sickling trait and, in 1949, published the mode of inheritance
of this disease. His “thrifty gene” hypothesis, first articulated
in 1962, explained the current huge increase in type 2 diabetes and is referenced
in leading scientific publications to this day.
Other Michigan students and faculty also have left lasting imprints on the
field of genetics. Marshall Nirenberg (Ph.D. 1957) unlocked the genetic code
showing how only four DNA bases, arranged in three-letter triplets, could code
for 26 amino acids. Nirenberg was recognized for his accomplishments with the
1968 Nobel Prize in Medicine. Hamilton Smith, M.D., who did his postdoctoral
work in the lab of Mike Levine, Ph.D., in our Human Genetics Department from
1962-67 before joining Johns Hopkins, went on to win the Nobel in 1978 for his
discovery of restriction enzymes that cut DNA at specific sites. While at Michigan,
Francis Collins, M.D., Ph.D., helped pioneer the concept of positional cloning
to find disease-causing genes, discovering the genes for Huntington’s
disease, cystic fibrosis and neurofibromatosis. He then went on to lead the
Human Genome Project and direct the National Human Genome Research Institute
at the NIH.
Following in this grand tradition, our genetic researchers continue to innovate,
discovering important new disease-associated genes and gaining new insights
into the workings of the human genome. For example, Friedhelm Hildebrant, M.D.,
in the departments of Pediatrics and Human Genetics, has identified a series
of genes involved in juvenile renal diseases. Marci Lesperance (M.D. 1988, Residency
1994) and colleagues at the Kresge Hearing Research Institute are finding genes
associated with inherited hearing loss. Using some of the same families whose
data Harold Falls began collecting more than 50 years ago, Anand Swaroop, Ph.D.,
in the Departments of Ophthalmology and Human Genetics, has discovered genes
associated with macular degeneration.
Of course, the issues surrounding the use of genetic information for the benefit
of our patients are daunting. The complexity will, no doubt, only increase over
time as we move from counseling patients and families about single-gene disorders
(there are over 1,000 such disorders we can test for today) to counseling for
complex disorders such as diabetes or behavioral disorders whose multi-gene
origins are yet to be learned.
We will continue our innovative research in genetics in the years ahead. Our
top-ranked programs in statistical genetics are unraveling the mysteries of
complex genetic disorders. Research in our renowned mouse genetics program is
creating accessible and convenient models of human disease. As we find genetic
abnormalities that lead to anatomic anomalies, a new program in fetal surgery
may soon correct some of these anomalies before birth.
At the University of Michigan, we are the proud stewards of a powerful tradition
of innovation in human genetics, and we are likewise proud to present to you
in this issue the current state of some of our work in this fascinating and
still challenging field.
Allen S. Lichter (M.D. 1972)