Neurology
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What Research Is Being Done?
Within the Federal Government,
the National Institute of Neurological Disorders and Stroke
(NINDS),
one of the National Institutes of Health
(NIH),
has primary responsibility for conducting and supporting
research on normal and abnormal brain and nervous system
development, including congenital anomalies. The National
Institute of Child Health and Human Development, the National
Institute of Mental Health, the National Institute of
Environmental Health Sciences, the National Institute of Alcohol
Abuse and Alcoholism, and the National Institute on Drug Abuse
also support research related to disorders of the developing
nervous system. Gaining basic knowledge about how the nervous
system develops and understanding the role of genetics in fetal
development are major goals of scientists studying congenital
neurological disorders.
Scientists are rapidly learning how harmful insults at various
stages of pregnancy can lead to developmental disorders. For
example, a critical nutritional deficiency or exposure to an
environmental insult during the first month of pregnancy
(when the neural tube is
formed)
can produce neural tube defects such as anencephaly.
Scientists are also concentrating their efforts on understanding
the complex processes responsible for normal early development
of the brain and nervous system and how the disruption of any of
these processes results in congenital anomalies such as cephalic
disorders. Recently, two new genes have been discovered that are
causes of lissencephaly and milder neuronal migration disorders.
Understanding how genes control brain cell migration,
proliferation, differentiation, and death, and how radiation,
drugs, toxins, infections, and other factors disrupt these
processes will aid in preventing many congenital neurological
disorders.
Currently, researchers are examining the mechanisms involved in
neurulation—the process of forming the neural tube. These
studies will improve our understanding of this process and give
insight into how the process can go awry and cause devastating
congenital disorders.
Investigators are also conducting a variety of genetic studies.
One of these studies concentrates on a specific form of
holoprosencephaly with the goal of finding the basic DNA defect
responsible for the abnormal development seen in this disorder.
Researchers are also analyzing genes and gene products necessary
for human brain development to achieve a better understanding of
normal brain development in humans.
Other research projects currently under way include a study to
evaluate increased risk of neural tube defects and various other
congenital malformations in association with environmental and
occupational exposure to pesticides.
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