Wednesday, March 25, 2015

Iceland Genome Sequencing Leads to Clues About Disease-Causing Genes

Blood samples that were used for genetics research.
     Scientists in Iceland have been able to produce a snapshot of a nation's genetic makeup. This has helped in discovering multitude of previously unknown genetic mutations. Some of these mutations play a role in ailments such as Alzheimer's Disease, heart problems, and gallstones. With this data, Iceland possesses a larger proportion of genetic data of their population than anywhere else. A genetics firm owned by Amgen said that the complete DNA sequencing of over two-thousand Icelanders was collected. With this much genetic information at their disposal, the scientists were able to infer the genomes of over 100,000 residents. Many diseases, such as breast cancer, are caused by mutations to a multitude of genes. For example, the scientists found that eight people shared a mutation for the MYL4 gene. This causes them to have a type of irregular heartbeat. Another mutation discovered influenced the level of a hormone that stimulates the thyroid gland. Inheritance patterns were also prevalent in the data. These scientists also discovered that nearly eight percent of Islanders lack a working version of a particular gene. The researchers were able to ascertain the genomes of people not examined via a technique called imputation. Amgen is now investigating a gene they found that has a strong correlation to cardiovascular disease.

     This research is incredible in helping fight off many diseases. Discovering the mutations can inform us more about the disease and point scientists to some possible treatments. However, a inority of people are afflicted by specific diseases. This means a large number of people must be studied, which is exactly what scientists at Amgen have done. This data does not only point to the gene that causes a health problem, but also its specific mutation. More insights from the DNA of Icelanders are sure to come. 

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