Iceland's New Discovery of Disease Causing Genes

While some diseases are caused by a single mutation, other more common disease are due to a number of different genes mutations. Discovering these mutations can lead to a potential treatment plan. In Iceland, geneticists have made a discovery of a previously unknown gene mutation that may be the cause of many ailments, such as Alzheimer's disease, heart disease, and gallstones. This amazing work was done by researchers at Decode. Decode is an Icelandic genetic firm that is owned by Amgen. In the study scientific analyzed 2,636 Icelanders complete DNA structure, this was the largest collection ever analyzed in a single population. With the information the scientists were able to accurately deduce the genomes of more than 100,000 Icelanders which is about a third of the entire country.

In the new study researchers have found that people in Iceland who suffer from atrial fibrillation or more commonly known as irregular heartbeat, have a shared mutation on a gene called MYL4. They also went on to find a rare mutation on a gene called ABDB4. The mutation of the ABDB4 gene can raise the risk of gallstones. In previous studies scientists have suggested that genes somewhere in the ballpark of gene ABCA7 was a cause for Alzheimer's disease. The current study has correctly identified the gene ABCA7 as a risk for Alzheimer's disease. Scientists from all over the world praise the researcher at Decode one even went to say that is was a bit of a holy grail.

This study is amazing and has opened many doors to help treat an prevent these diseases. Though more research needs to be done in the area, the scientific break though will hopefully lead to a brighter future.

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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