Two genetic variations were found
to cause Hirschsprung’s disease, a possibly fatal disease that occurs once in
every five thousand births. Hirschsprung’s disease causes bowel obstruction in
infants due to nerves that control the colon not developing properly in the
womb. When left untreated Hirschsprung’s is fatal in infants. Aravinda Chakravarti, a professor at Johns
Hopkins University, started a study on the disease in 1990 and in 2002. In the
studies 650 patients markers were compared. A variant in the Ret gene was found
in common with the patients along with genes for several semaphorins, proteins
that guide nerve cells growth. These two genes are part of a system of signals
called pathways, and when the two variants are present the nerve cells that
control the colon cannot develop.
Presently there are no tests to
identify the likeliness of the disease. Hopefully with the information provided
in this study there will be progress in developing a test to identify which
children will be born with the disease, and treatment can be given immediately before
fatalities can occur.
This information is very interesting to me. I hope with these new findings, tests can be developed to detect this and help save the lives of infants who face this rare disease. More research should be done to find out how these genetic variations cause the colon to not develop properly, so a cure or treatment can be found.
ReplyDeleteThis is a very interesting article. I have never heard of this disease. I didn't know such a thing even existed. This sounds very painful and uncomfortable for the infant. I wonder, now that the gene is known to cause this, what treatment plan will be developed. I also wonder what other conditions can be arisen due to the Ret gene since it appears to play a profound role in nerve cell growth.
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