New Light on Disease Causing Genes

According to the article published by the New York Times, “In Iceland’s DNA, New Clues to Disease-Causing Genes,” scientist in Iceland have managed to sequence and analyze the genome of an entire single population.  They have gathered and infer the genomes of more than 100,000 Icelanders and through this information discovered a host of previously unknown gene mutations that may play roles Alzheimer’s, heart disease, and gallstones.  A group of researchers from Decode presented a mutation on eight people with a gene called MYL4 and medical records showed they also had early onset on atrial fibrillation.  Another mutation found was one that influences the level of a hormone that stimulates the thyroid glands.  When Icelander’s inherit this gene through their mothers, more hormones are made.  However, when inherited from their father, they make less.  

The research team found a rare mutation called ABDB4 that raises risk of gallstones and also one called ABCA7 as a risk factor for Alzheimer’s disease.  According to Gilian McVean, a geneticist at the University of Oxford, said this discovery is a rare and “a bit of a holy grail for genetics”.  Scientist usually search for causes by seeking those who lack the gene; the Icelander’s study seeks the gene and the specific mutation. The team of researchers looked for a human knockout gene and found a large amount in nearly 8 percent of the population.  With a technique called imputation, researchers claim to be able to ascertain full genomes of those who have not been examined.  Current policy does not allow Icelander’s to access or be informed of their genetics results.  However, the genetic diversity of Iceland is very low and makes it easier for researchers to detect genetic variants.

I found this article to be quite interesting because the amount of data it provided can help discover causes and possible treatments in the future.  With the changing world of genetics, the possibilities of knowing or not knowing of a chance of having a disease becomes a choice.  With that choice comes preparation for if or if not the disease comes to light.  One thing about this article I don’t agree with is that Icelander’s are not allowed the results of their genetics test.  It is their medical record and I feel everyone should be entitled to their records.  Hopefully this changes one day.