Monday, April 13, 2015

New Clues to Disease Causing Genes

            Scientists in Iceland have discovered “previously unknowngene mutations” that cause many diseases such as Alzheimer’s disease, heart disease, and gallstones.  The project is referred to as Decode.  According to Daniel G. MacArthur, a geneticist at Massachusetts General Hospital, they have managed to get a larger chunk of genetic information of an entire population than any other country in the world.  They were able to describe the sequence of genomes 2,636 Icelanders.
            These diseases are caused by a number of genetic mutations, unlike cystic fibrosis, which is why they are so common.  The genetic mutations can code for anything from irregular heartbeat to heart disease and breast cancer.  Scientists have tested those with genetic mutations to see which diseases they could code for but also those that lack working versions of the genes, known as “human knockouts”.  Nearly eight percent of Icelanders have knockout genes, 1,171 genes were identified.
            Scientists are testing thousands of genetic (and partial genetic) information from people both with and without these genes in order to find out what causes these genetic mutations and diseases.  They have a technique called imputation that allows them to read the full genome that have never been tested or submitted their information.  With this technique, scientists can identify which people have a gene that codes for a certain disease such as breast cancer or Alzheimer’s.  Although this information has to be kept from Icelanders at this time, it is a huge breakthrough in the genetics movement.
The research done by these scientists is so important because it can help point us towards potential treatments and cures to these diseases.  Being able to discover the genes that cause genetic mutations and diseases would make it easier for an early diagnosis.  Decode declared bankruptcy but was rebought, allowing the research to continue.  I believe the scientists in this project should not only continue their research, but expand it.  If their experiments continue the way they have been, the cures to many common diseases could be closer than we think.


No comments:

Post a Comment