Iceland is Providing Genetic Information to Cure Disease

http://www.cnbc.com/2017/04/06/icelands-genetic-goldmine-and-the-man-behind-it.html

In 1996, the company deCODE Genetics set out to find the genetic makeup of Iceland. What makes Iceland a prime location for this kind of testing is the presence of the founder affect means that most people can trace their genes back to a few individuals, which means there may be rare mutations that are more easily identified. Another factor that makes Iceland a good target for this kind of testing is that there are extensive records of family trees that date back 1185. Iceland also has the oldest census dating back from 1703. Using these records along with genetic analysis of the residents, deCODE has been able to find genes that contribute to Alzheimers, type 2 diabetes, cardiovascular disease, schizophrenia, and a few more. A mutation that leads to decreased risk of heart attack and coronary artery disease was also found, and there are plans to try and develop drugs that can mimic this mutation. This study in Iceland has inspired many other countries to try and do similar genetic analysis on the residents in their country including the US, England, Ireland, France, Singapore, China, etc. I think that this a good idea as pharmacogenetics begins to expand. If countries already have a basis of the genes that are in their countries, it will make it easier to find ways to treat prevalent diseases and to find cures and preventative measures that other people may have in their genomes. 

Isolated Genes in Iceland Could be Key in Preventing Alzheimer’s

Isolated Genes in Iceland Could be Key in Preventing Alzheimer’s

 

It is estimated that about 90% of the population in Iceland is pure Icelandic. For this reason, geneticists have been attracted to Iceland and their gene pool to conduct experiments and do research. A company called deCODE was created in an effort to map the genome of Iceland (about 332,000 individuals). The deCODE team has identified genes that effect the chances of developing Alzheimer’s. About 1% of the Icelandic population has a rare gene variance that completely protects an individual from developing Alzheimer’s. Using this information about the genetic variant, researchers are now working to replicate what this gene does in order to use it for medicinal purposes.

The research presented in this article is incredibly promising for the field of medicine. Alzheimer’s has been a bit of a mystery, and remains as one to this day. There is no conclusive evidence on why or how people get it, and there is certainly no cure for it. With the genetics research being done by the deCODE team, perhaps some day we will be able to treat this disease. Similar research could shed light on other conditions or diseases, ultimately leading to more cures, preventions, and treatments. 

Read about why Iceland is the world's greatest laboratory!

Discovering Unknown Gene Mutations in Iceland's DNA

Sequencing genomes is incredibly helpful in adding to the understanding of different species and populations. Having data for sequenced genomes also gives a lot of information for people that study gene mutation and disease. Scientists in Iceland sequenced the complete genomes of 2,636 people from Iceland which is the biggest population sequenced out of every country in the world (in 2015). From this information they were able to also deduce information of the genomes of  more than a hundred thousand other Icelanders, adding to the extensiveness of this feat.

http://travel.nationalgeographic.com/travel/countries/iceland-guide/

This genetic information helped scientists discover how different mutations that were unknown before affect certain diseases. Not all diseases are caused by a mutation on a single gene, mutations of many genes can cause certain disease or the likelihood of someone getting that disease. There are so many different combinations of mutations yet to be discovered, but having a big population size with available genetic information can lead to more because scientists can find things in common with people from the same population. Scientists found that eight people from Iceland with the same mutation on a MYL4 gene all had a diseases that causes irregular heartbeat in common. Having a big sample size to compare data to is very helpful in science, and can help lead the studies of how mutations affect many diseases, progressing. 

http://www.nytimes.com/2015/03/26/science/in-icelands-dna-clues-to-what-genes-may-cause-disease.html?_r=0

New Clues to Disease-Causing Genes in Iceland's DNA

Recently scientists in Iceland collected 2,636 Icelander’s complete DNA, which is entirely unprecedented as it is the largest collection ever analyzed in a single human population. With this amount of genetic information, scientists were able to accurately come up with more than 150,000 partial and 10,000 full genomes. With this discovery came a host of previously unknown gene mutations that play a role in illnesses such as heart disease, gallstones, and Alzheimer’s. For example, 8 people were found with the gene MYL₄ that is a mutation for an early onset of an irregular heartbeat. Another strange gene that was found was the ABDB_4, which increases the risk of gallstones and the ABCA₇ gene that increases Alzheimer’s disease. Interestingly enough, there was a mutation that influences the level of hormone production that stimulates the thyroid gland. However, if Icelanders get the mutation from their mother they produce more hormones, whereas if they get it from their father they produce less. Decode, which is the name of the project, looked specifically for human knockouts and found nearly 8 percent of Icelanders lacking a working version of a gene.

I found this article interesting because of the discovery of new and previously rare mutations. What Iceland is doing is something that the United States should get on board with because the more genomes you have, the more you might discover and possibly treat new diseases in the future. The article also describes Iceland as a “fertile” country for genetics research because of its low genetic diversity, which makes it easier for scientists to detect genetic variants that raise risks of possible diseases. With this being said perhaps more attention should be directed towards collecting and studying more Icelander’s genomes.

Could Iceland's High Life Expectancy Be Caused By Good Genetics?

World Life Expectancies (Iceland 83.1)

Iceland has one of the worlds toughest climates to live in. Despite this, the people there live longer than just about every other place on Earth. The reason? Good genetics. The people who live the longest usually have a family history of longer lives. Kari Stefansson investgated this phenomenon by collecting genetics information on about 1/3 of Iceland's population. He and his company, DeCode Genetics then compared the genetic information from those 90 and up. What they found is that these people were more related to each other than the control groups. What they think happened is the harsh life of Iceland in the past, (unheated homes, agricultural hardship, and widespread poverty) made it difficult to survive. Those that did survive then passed on those hardy genes down to the next generation. Adding to this that people who die young in Iceland stilll drink the same water and breathe the same air, so there must be another cause, and Stefansson thinks it is in the genetics.

This article stood out to me because it shows how good genes passed on through generations can begin to add up. The articles make note that the good genetics probably started with the vikings. In the articles there is an interactive world expectancy map, and what I found interesting from scrolling over a couple of countries is the only other country with 83 years as the expectancy is Japan, another island nation. So, maybe not so much now, but in years past these could have been isolated populations where there wasn't as much genetic variation allowing the good genes to accumulate over time.

Iceland May Be the Key to Human Genome

Current research in Iceland could lead to a revolutionary look into the human genome. Four studies are currently underway that are examining the genome of Icelands human population, all four of which are funded under deCODE Genetics. Altogether, around 104,000 participants have been analyzed for their genes. Each study has examined different aspects of the human genome, such as “knockout” gene mutations and y chromosome mutation rates, but all four studies are coming together to build a bigger picture, both looking back into human evolution as well as looking forward into diagnostic and preventative care value. The studies, so far, have found links between genes that have been turned off in humans and their relation in the body, discovered that the most recent common ancestor for Y chromosomes lived 239,000 years ago (breaking from previous research estimates by a substantial 100,000 years ) , created new means to diagnosing diseases like Alzheimer’s, and even have contributed to uncovering cancerous mutations in women. Lead author of the papers and CEO/founder of deCODE has told BBC that other countries are gearing up to start this level of genome research, and that he hopes to combine global research to get a broader view of the human genome. 

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. 

Link1: http://ow.ly/M5UA0
Link2: http://ow.ly/M5UEo

Icelanders have database to prevent inbreeding

An article from Time has published states that Iceland has an online database that determines the relationship between people in Iceland.  Iceland is an isolated nation that has a population roughly the size of Pittsburgh.  The chances of a person dating someone that is related to them is actually a possibility.  Icelanders has found a way to prevent such accidents from occurring.  They have created an online database called Íslendingabók (the Book of Icelanders) that allows users to input their own name alongside that of a prospective mate, determining any relation.  Any legal Icelandic citizen has an Icelandic ID number is accounted for in this database and the site claims to track 1,200 years of genealogical information.  The site can also determine any close relations with famous Icelanders.  This project resulted from a collaboration between a genetics research company and a software entrepreneur.  More information can be found here.

Viking Mice

Where there’s a human, there’s a mouse. A house mouse to be exact. ScienceDaily posted an article displaying the “road trip” that house mice have taken with humans. By using genetic techniques on both ancestral and present day mitochondrial DNA from these mice, scientists were able to trace the timeline of mouse history.

It has been discovered that mouse colonization follows that of Viking colonization. When comparing mitochondrial DNA from mice from the Vikings time, approximately 10^th to the 12^th century, to present day samples, we are able to see the path these little hitchhikers took to get where they are today. Starting from Norway or the British Isles, they made there way, via Viking transportation, into Iceland and then into Greenland. In the article, a Dr. Eleanor Jones says that, "Human settlement history over the last 1000 years is reflected in the genetic sequence of mouse mitochondrial DNA. We can match the pattern of human populations to that of the house mice."