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The J. C. Self Research Institute of Human Genetics
Charles E.
Schwartz, Ph.D., Director of Research
A division of
the Greenwood Genetic Center, the JC Self Research Institute is a state and national resource where
scientists seek a greater understanding of the causes, treatment, and
prevention
of birth defects and mental retardation. The Institute is taking a
leading role in genetic research in South Carolina. Whether mapping part
of the vast unknown areas of the human genome, studying the effects of a
single gene gone awry, or putting into practice a strategy for families
to avoid hereditary disease, scientists at the Institute hope their work
will bring the next generation closer to the goal of having all babies
born healthy and free of physical and mental disabilities.
Under the direction of
Dr. Schwartz, the research is divided into two major
centers: Center for Anatomic Studies
Headed by Robert R. Lebel, M.D. (bio),
the Center for Anatomic Studies devotes its resources toward understanding
the mechanisms by which birth defects occur and how they may be prevented.
Investigations focus on the processes of embryonic and fetal growth and on
the contribution of faulty blood vessels to birth defects.
The Center for Anatomic Studies provides fetal examination
as a service to physicians and their patients. This service is also a
component of the South Carolina Birth Defects Surveillance and Prevention
Program.
The article Grieving After Pregnancy
Loss, by Nina Holbrooke, Kristy Lee, Patricia J. Broome and Robert
Roger Lebel, published in Proceedings of the
Greenwood Genetic Center, Volume 26, 2007, refers to supplemental
materials that may be helpful for professionals assisting families
through the grieving process after adverse pregnancy outcomes.
Click on items below to access supplemental material
(MS Word documents):
Interpretation of weights and
measurements obtained at perinatal autopsy can be facilitated by logging
on to the web address
http://autopsy.jarchie.com which provides direct access to the
regressions published in the article Quantitative Standards for Fetal
and Neonatal Autopsy, by Archie JG, Collins JS, Lebel RR: Am J Clin
Path 126 (2):256, 2006.
Center for Molecular Studies
Charles E. Schwartz, Ph.D. (bio)
heads the active research programs of the Center for Molecular Studies. Dr.
Schwartz received degrees from Colgate, Oklahoma State, and Vanderbilt
Universities and joined the Center's faculty from the Department of Human
Genetics at the University of Utah School of Medicine. The primary focus of
the Center's research is gaining a greater understanding of mental
retardation, discovering new mechanisms which contribute to genetic disease,
and developing new strategies for prevention. The work of this Center is
enhanced by its collaboration with the South Carolina Department of
Disabilities and Special Needs, which is responsible for providing care for
mentally retarded individuals in South Carolina.
Current research in the Center for Molecular Studies
focuses on
X-linked mental retardation, autosomal loci for
mental retardation, autism,
split hand and split foot malformation, and
neural tube defects.
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