Doctors Pioneered Genetic Research

Doctors Pioneered Genetic Research

The researchers of Institute for Systems Biology in Seattle and the University of Utah have been successful in unlocking the genetic code for the entire family and claimed to contradict with the previously thought theory of passing of the mutations in the family.

The research suggested that each parent passes on only 30 mutations for a total of 60 to their family generation. It could be very useful in answering the questions related to the causes of the various universal diseases. It has been a belief that many of the mutations lay no effect on a child’s health. The family which was the participant of the research was chosen because both their children were suffering from Miller syndrome and Primary Ciliary Dyskinesia (PCD). The parents of the children were reported to have no genetic abnormalities.

James Lupski, Vice Chairman of molecular and human genetics at Baylor College of Medicine in Houston, Texas, said, "This is the first time we have tried to identify a disease gene in this way. Currently we only know the function of 5 to 10 per cent of the approximately 25,000 genes in our genome that it takes to make a human being. What this paper tells us is that the data are robust enough that we can start to use it to interpret clinical information in the context of the genome sequence".

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