There are two different types of diabetes, Type 1 and Type 2, both are very harmful to your body if not taken care of properly. You can inherit a predisposition to the disease. Environmental factors also play a key role in triggering each type. In most cases a child needs to inherit risk factors from both parents to be at high risk of type 1 diabetes. Researches also think that early exposure to viruses may trigger type one diabetes in a person. Some type one diabetics have autoantibodies found in their blood that may have been there years before they developed the disease. Researchers are still trying to find out how genetics and environment come together with this disease that is becoming more and more common. In type two diabetes it is almost all environment. Obesity is a key problem in the development of type two. Researchers are unsure if it is more environment or genetic susceptibility.
I believe that type two diabetes is mostly due to environmental causes and the treatment of ones body, but type one seems to be easily passed down through generations. I believe that exercise, food, and exposure to viruses may also be a big issue in type one diabetes development.
Link1: http://www.diabetes.org/diabetes-basics/genetics-of-diabetes.html
Link2: http://www.medicinenet.com/script/main/art.asp?articlekey=12135
Tuesday, March 31, 2015
Hope to Live to 100? Check Your Genes
Healthy eating and exercise might help most people live to a respectable old age, but making it to 95 or 100 might require help from your DNA. A Study led by the professor of biostatistics, found that people who lived to age 90, the chances that their siblings also reached 90 was only about 70 percent higher than for the average person born around the same time. When studied further, it was statistically shown that siblings of people who lived to age 95, had a 3.5 times higher than the normal chance of also reaching the age of 95. For people who lived to 100, the chances of their siblings also reaching 100 was 9 times higher than normal. And for the few who lived to 105, the chances of their siblings also reaching 105 was 35 times higher than normal. Researchers say that genes play a strong role in living to extreme ages. Also, that the combinations of longevity-linked genes that help people live to 95, may be different than the ones who help people live to 105.
I find it interesting that genes play a role in age, especially because it is thought that all you need to live a long life is to be healthy. It would be cool to see if future geneticists could somehow alter genes to lengthen peoples lives.
Gene Therapy Shows Promise for Rare Immune Disorder
Studies have shown that a new gene therapy may benefit kids and young adults that suffer from Wiskott- Aldrich syndrome. This disorder can be characterized by a low blood platelet count and symptoms include eczema and recurring infections. Most people who have Wiskott- Aldrich syndrome die in their 20's or 30's. Seven children who have Wiskott- Aldrich syndrome were given a gene therapy treatment and studied for several months. The gene therapy involved having the patient's own stem blood cells taken, correcting the faulty gene, and injected back into the patient. Six of the seven patients found milder eczema and less infections, while the seventh patient died due to a preexisting infection.
http://health.usnews.com/health-news/articles/2015/04/22/gene-therapy-shows-promise-for-rare-immune-disorder
I find that this research is very important for genetic diseases. Although this gene therapy is specified for one autoimmune disorder, it may show promise for other diseases. In this gene therapy, the mutation on the WAS gene on the X chromosome is corrected in the stem blood cells and injected back into the patient. Perhaps another genetic disorder with a gene mutation found on the X chromosome can be corrected using this gene therapy.
http://health.usnews.com/health-news/articles/2015/04/22/gene-therapy-shows-promise-for-rare-immune-disorder
I find that this research is very important for genetic diseases. Although this gene therapy is specified for one autoimmune disorder, it may show promise for other diseases. In this gene therapy, the mutation on the WAS gene on the X chromosome is corrected in the stem blood cells and injected back into the patient. Perhaps another genetic disorder with a gene mutation found on the X chromosome can be corrected using this gene therapy.
Monday, March 30, 2015
Possible Cure for Early Alzheimer's
Researchers at John Hopkins University found that a drug used to treat patients with epilepsy can actually calm down the brain of patients that have early signs of Alzheimer's. Recent research backs up previously published works by the John Hopkins' team that the drug has advantages. Animal studies have been done and a plan for long-term clinical trials is in place to see how the drug will affect human brains.
Certain studies have shown that small amounts of atypical antiepileptic levetiracetam lowers the affects of Alzheimer's dementia. 84 people were studied and out of them 17 were healthy and the rest had pre-dementia. All were over the age of 55. In a double-blind trial some patients were given a placebo and some were given small doses of the drug. Low doses showed positive results in lessening memory loss.
This article is so interesting because Alzheimer's affects many people. Finding a possible cure is amazing because then people would not have to suffer through the disease. Just knowing that grandparents and even parents would not lose their memory and not forget the ones they love is a great thing. With the way this research is going I think many positive outcomes will become available in the near future.
MRI: The new biopsy in detecting cancer cells
According to a recent study done at John Hopkins University, researchers propose a possible new method to finding out whether cells are cancerous without undergoing a biopsy. The new method they tested in their study was the use of a MRI technique in test tube grown cells and mice. The positive side of using a MRI is that unlike CT scans or mammograms it not only detects tumors, but it also can detect sugar molecules shed by cancer cells, therefore indicating which cells are cancerous.
Jeff Bulte, a professor of radiological sciences at John Hopkins, based his research on prior studies which found glucose to be detected by a MRI technique based on its water interactions without dyes. According to Xiaolei Song, the lead author in this study, this new MRI technique helps us see the whole tumor cell, whereas with the dyes we could only see part of it. The researchers propose more research needs to be conducted before testing to see if this new technique could work in humans as well. I think this could be a huge step in cancer research if the continuing studies show to be effective. I am looking forward to see where this new research takes us.
No More Cold Sores?
In the article “Research May Point to Treatment of ColdSores” written by Douglas Quenqua in the New York Times, he states that there
may be a treatment for cold sores. About 20% of people get regular cold sores,
which may be genetic. Herpes simple virus type 1, which is cold sore, is very
common, affecting almost 9 out of 10 people. But just because people have the
virus does not mean they get cold sores often or at all. Researchers from the
University of Edinburgh in Scotland found genes that contained proteins that
prevented the virus, but one was mutated and caused people to develop the
sores. The gene was called IL28B and it did not produce the protein to stop
sores from forming. With this information, the possible treatment is acyclovir,
which could also treat other infections that are caused by the virus, but not
for infections of brain, eyes, and genitals when very severe.
This research is very helpful because many people suffer
from cold sores, although it is not a life or death situation, but it is a
common thing that people have to deal with on a daily basis that could potentially
be treated. The only thing I have known that help cold sores is Abreva, which some say do not work for them. Acyclovir can also treat eczema, which is a form of herpes. If this treatment does work, it could potentially lead to finding
treatment from the more severe infections that were mentioned, such as the
brain, eyes, and genitals. Acyclovir can only stop the spread of the virus, it is not a cure. So, this treatment could lead to a cure for all of the herpes viruses.
Genetic Variant 7R Has Been Identified as Potential "Explorer" Gene
While humans have made many notable strides in evolutionary
differences between our fellow mammals – opposable thumbs, brain size and
development, advanced language, etc – one notable stride has been gaining the
attention of evolutionary biologists, neurologists, anthropologists, and geneticists
alike. The expansion and exploration of humanity has fallen under the
microscope and the research in this area is ever-growing. As reported by none
other than National Geographic (who better?), multiple fields of scientists are examining human exploration,
including geneticists. In recent studies, geneticists have been examining the
effects of a variation on the DRD4
gene, a gene which influences dopamine, an important neurotransmitter
in regards to learning, rewards, excitement, and pleasure. The variant in question,
DRD4-7R, has been linked to Attention Deficit Hyperactivity Disorder
(ADHD), and is starting to get linked to the exploratory tendency of human
nature. In a broad sense, human studies have correlated the presence of the 7R
variation to restlessness, curiosity, and higher inclination towards adventure
and change. In a larger study conducted by
the University of California, the variant 7R was found more commonly in individuals
whose ancestors were highly migratory than those who hailed from more sedentary
populations. Other studies have found R7 to be more common in individuals whose
ancestors had longer tracks of migration, individuals in modern-day migratory
groups who are more physically fit and well-nourished when migrating often as
opposed to poorly-nourished individuals in settled villages, and even more
common in individuals who have lived to old age and exercised well during their
lifetime (both in humans and mice) .
While multiple studies do come to the conclusion that there is a correlation of
the variant in individuals whose ancestors travel and who benefit well from
enriching environments and movement in their lifetime, most professionals agree
that human exploration, while unique even among hominids (not even Neanderthals
were known to move far from their established territories) , cannot be placed
solely onto a single gene. Humans are the only mammal known to explore beyond
established territories without the need to do so (i.e. depleted resources, following
prey, etc.), but there have been a lot of physical adaptations that have led to
this unique trend. The change from quadrupedal to bipedal movement allowed
humans to expand their territorial range and increase their endurance; the
expansion of the brain and the delay in maturation has allowed for the increase
in creative thinking as well as intellect that lead to innovative tools and
understanding of scenario-based potential outcomes; the rather un-matched
dexterity of human hands allowed the human imagination to expand and build
tools to aid in travel. While the R7 gene may correlate to hyperactivity and
perhaps to the urge to move and maybe even travel, there are many factors that
have led to the expansion and exploration that is inherent in humanity.
Sunday, March 29, 2015
Genetic “Off-Switch” for Aggressive Form of Breast Cancer Found
About
15% of all breast cancer patients are diagnosed with triple-negative breast cancer. Triple-negative breast cancer
got its name because the cells test negative for estrogen receptors,
progesterone receptors, and HER2 receptors.
Since triple-negative breast cancer lacks these receptors, it cannot be
targeted by any drugs that are available for the treatment of other types of
breast cancer. Triple-negative breast
cancer patients typically have shorter survival rates than patients who are
affected by other forms of breast cancer.
Researchers from Sydney’s Garvan Institute of
Medical Research have identified a gene known as inhibitor of differentiation 4 (ID4). They discovered that ID4 is an
indication of an aggressive form of triple-negative breast cancer. The researchers determined that ID4 may also
be responsible for controlling the aggressive form of triple-negative breast
cancer. The researchers found that high
levels of ID4 are produced in about half of all triple-negative breast
cancers. They found that cases in which
ID4 was present had poor prognoses.
Through experimentation with models of triple-negative breast cancer,
the scientists were able to show that blocking the ID4 gene caused the tumor
cells to stop dividing. The researchers
discovered that the more benign form of triple-negative breast cancer appears
to originate from specialized cells while the aggressive form appears to
originate from stem cells.
Previous studies have shown that breast stem cells
are an integral part of breast growth and development during puberty and
pregnancy. This study has demonstrated that
ID4 is responsible for whether or not the breast stem cells develop into
specialist cells. The researchers were
able to demonstrate that blocking ID4 in a breast stem cell activates genes that
drive cell specialization, estrogen receptors, and other genes that are
expressed by forms of breast cancer that are less aggressive. The researchers are hopeful that by blocking
ID4 in the aggressive form of triple-negative breast cancer, they will be able
to treat it with tamoxifen. Tamoxifen is
the drug that is used to treat estrogen receptor-positive breast cancers.
I found the results of this study
remarkable. I think the findings of this
study will provide a lot of hope for those who are diagnosed with triple
negative breast cancer. Hopefully future
studies involving the investigation of ID4 will provide further understanding
of how to treat triple-negative breast cancers.
Too Much Vitamin D Can Be Bad
So since childhood most people have heard that not getting enough vitamin D can cause serious problems to ones health. Well now scientists are saying that too much vitamin D can actually have some serious risks as well, to include death. A study that has been going on for several years has actually proven that too much vitamin D can be deadly. A study using 247,574 Danes was done to study the levels of vitamin D in the bodies. During the seven years the study took place 16,645 patients have died. The connection between a high vitamin D rate and death rate is highly significant.
The study showed that a person's vitamin D level should be between 50 and 100 nanomol per liter. Patients over 100 actually showed a higher death rate cause from a stroke or a coronary. Too low of a level can also cause death. A good healthy level would be around 70 nanomol per liter.
This article is a good source of information considering many people take vitamin supplements. If people are aware of the possible harm these supplements might cause it could save many lives. Never did I hear that too much vitamin D could kill you so it is interesting how new research in different fields is showing results. The positive result for this research is that people will now be aware of a healthy level of vitamin D and possibly other vitamins in the future.
MRI based on a sugar molecule can tell cancerous from noncancerous cells.
A recent discussion of an article by John Hopkins Medicine states that the research done by Xiaolei Song, Ph.D., lead author, and the other scientists involved suggest that MRI has the possibility to replace tumor biopsies. Mammograms, CT scans, and other imaging tests have the ability to detect tumors, but invasive biopsies are still required to tell whether they are cancerous or not. This study discusses that an MRI could detect sugar molecules that are shed by the outer membrane of cancerous cells that are not on regular cells, so therefore a noninvasive technique to diagnosing a cancer. However, this technique has only been tested on test tube-grown cells and mice as of now. Jeff Bulte, Ph.D., a professor of radiology and radiological science in the Institute for Cell Engineering at the Johns Hopkins University School of Medicine, says that when cells become cancerous, some of the proteins on their outer membrane become less slimy by shedding the previously mentioned sugar; so, by tuning the MRI to detect the sugars on a particular protein, they are able to see the difference between the cancerous and noncancerous cells. The research done by Bulte is built upon research done by other scientists where they found a finely tuned MRI detected glucose based on the way it interacts with surrounding water molecules. Their next step is to see whether or not this technique can tell the difference between more types of cancerous tumors from benign ones in live mice, as well as if it is even possible to use this technique on humans.
Again, more testing on human subjects needs to be done in order to test this technique; however, this could be a great step towards cancer research. Invasive procedures are tiring and can take it's toll, so having a technique to discover whether or not a tumor is cancerous seems like a great idea to me. But just because it has worked on the lab grown cells and the mice, doesn't mean that it will work on humans. I'm interested to see future studies on this.
Again, more testing on human subjects needs to be done in order to test this technique; however, this could be a great step towards cancer research. Invasive procedures are tiring and can take it's toll, so having a technique to discover whether or not a tumor is cancerous seems like a great idea to me. But just because it has worked on the lab grown cells and the mice, doesn't mean that it will work on humans. I'm interested to see future studies on this.
Are You Related to Your Friends?
As the saying goes “friends are the family you choose”,
could now have a deeper meaning to it due to a study that lead to a possible
scientific reasoning behind this statement.
After a study was performed based on data from the Framingham Heart
Study, it was found that friends had more gene variations in common than
strangers. Pairs of friends appeared to
share the same gene involved in a person’s sense of smell, the olfactory gene,
most commonly.
Researchers compared gene variations between nearly 2,000
people who were not biologically related.
According to social scientist, Nicholas Christakis of Yale University researchers
conducted the study to “provide a deep evolutionary account of the origins and
significance of friendships.”
It was found that
pairs of friends have had the same genetic relation as people did with their
fourth cousin, or a great-great grandfather, after analyzing about 1.5 million
marker of gene variations. This
information could be translated into about 1 percent of the human genome. Though this number may not seem very
significant, it is significant in the world of genetics. These results suggest that choosing friends
who share similar genes is a behavior that could have contributed to human
evolution.
This information is very fascinating because often times, we
always wonder why we associate ourselves with people we seem to have more in
common with, or why we get along with some people, and not others. This is also a different take on the concept
of evolution, and how this could influence it in the future. As more research is done to further study how
friends could share common DNA sequences, it will be interesting to see other
similarities found in genes, and other ways we could possibly be related to our
friends.
Original Article: http://www.livescience.com/46791-friends-share-genes.html
Additional: http://www.npr.org/blogs/health/2014/07/14/331354227/do-we-choose-our-friends-because-they-share-our-genes
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.
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.
Honey Bees use multiple genetic patheways to fight infections.
Honey bees are essential to pollination, which means that it is extremely important for them to survive. Over the years we have had difficulty trying to keep honey bee colonies alive due to viruses, bacteria as well as parasites. Scientists have been working hard to determine a solution to the downfall of honey bee populations. Studies have shown that about 30 percent of honey bee colonies are lost over the winter, another 25 percent over the summer. The problem here is that there is not currently any type of treatments available for these bee keepers to fight these infections in their colonies. This has been up for discussion for a period of time due to the importance of these bees. A solution has to be found in order to protect these bees from further destruction of their populations.
Scientists are working to find out which genes increase or decrease activity levels of these bees in the presence of viruses by measuring the expression of all genes in the honey bee genome, whether the virus is present or not. Their findings showed that the RNAi pathway in these bees had increased activity, which could mean that it has anti-viral properties in the immune pathway in bees.The researchers also looked for extra methylation marks which in virus infected bees could be present or not. Their finding showed that not only does the viral infections change the pattern of DNA methylation in honey bees, but its also in completely different genes then the ones in the RNAi pathway. These researchers have discovered that some of these genes are also anti-viral in humans, this has not yet before been linked in insects. These finding may not save the honey bees but it will only help further the information we have on the bees genetic background.. This information will help lead to how we can protect the populations of bees that we still have. Honey bees are important to understand and we should be doing everything we can to protect them.
Article: Honey Bees
Info: Honey Bee Pollination
Scientists are working to find out which genes increase or decrease activity levels of these bees in the presence of viruses by measuring the expression of all genes in the honey bee genome, whether the virus is present or not. Their findings showed that the RNAi pathway in these bees had increased activity, which could mean that it has anti-viral properties in the immune pathway in bees.The researchers also looked for extra methylation marks which in virus infected bees could be present or not. Their finding showed that not only does the viral infections change the pattern of DNA methylation in honey bees, but its also in completely different genes then the ones in the RNAi pathway. These researchers have discovered that some of these genes are also anti-viral in humans, this has not yet before been linked in insects. These finding may not save the honey bees but it will only help further the information we have on the bees genetic background.. This information will help lead to how we can protect the populations of bees that we still have. Honey bees are important to understand and we should be doing everything we can to protect them.
Article: Honey Bees
Info: Honey Bee Pollination
The genetics that cause hens to peck
Marjolein Kops from Utrecht University hypothesizes that two chemicals, serotonin and dopamine, along with management and genetics affect the desire of hens to feather peck. Serotonin helps regulate mood, impulsiveness and aggression and dopamine is involved in motivational and reward-related behavior. Severe feather pecking in a flock can be trigger by stressors, such as diet, environmental disturbances or housing conditions and can be measured by the lack of feather cover of victims. Due to the small of DNA variations of hens, some are more vulnerable to the triggers setting off dopamine/serotonin receptors, which cause onsets of severe feather pecking during adulthood. Dr. Kops.
During the study, Dr.Kops used leghorn birds, one group being aggressive and the other being more docile, and examined the birds’ brain distribution of serotonin and dopamine. Through the study, she categorized the birds based on pecking behavior; first order peckers and second order peckers.. First order peckers instigated pecking, which influenced others, second order pecker, to peck. Another categorized group were the victim and the non-pecker. The first order pecker birds were genetically inclined to peck by stressors. Whereas, the second order will only peck after witnessing the damaged feathers of victims. Dr.Kops states that further research is needed to assess the categorization of the birds and brain chemicals produced by the birds.
Dr. Kops research can help farmers identify and remove aggressive birds in young flocks to reduce pecking. Also, it can reduce injuries or deaths cause by pecking and reduce the need to trim beaks of birds to stop/prevent pecking.
Original Link: http://www.fwi.co.uk/poultry/the-genetics-that-cause-hens-to-peck.htm
Related Link: http://en.wikipedia.org/wiki/Feather_pecking
During the study, Dr.Kops used leghorn birds, one group being aggressive and the other being more docile, and examined the birds’ brain distribution of serotonin and dopamine. Through the study, she categorized the birds based on pecking behavior; first order peckers and second order peckers.. First order peckers instigated pecking, which influenced others, second order pecker, to peck. Another categorized group were the victim and the non-pecker. The first order pecker birds were genetically inclined to peck by stressors. Whereas, the second order will only peck after witnessing the damaged feathers of victims. Dr.Kops states that further research is needed to assess the categorization of the birds and brain chemicals produced by the birds.
Dr. Kops research can help farmers identify and remove aggressive birds in young flocks to reduce pecking. Also, it can reduce injuries or deaths cause by pecking and reduce the need to trim beaks of birds to stop/prevent pecking.
Original Link: http://www.fwi.co.uk/poultry/the-genetics-that-cause-hens-to-peck.htm
Related Link: http://en.wikipedia.org/wiki/Feather_pecking
Saturday, March 28, 2015
Weed Killer, Long-Cleared, Is Doubted
Recently, an agency of the World Health Organization (WHO) determined that glyphosate, an active ingredient in Roundup, a popular weed killer, might cause cancer. Thirty years ago, Environmental Protection Agency (EPA) said the same thing. However, in 1991, EPA changed their decision and said that roundup is non carcinogenic for humans. WHO recently came up with their conclusion based off of the same mouse study that caused EPA to changed theirs. The maker of Roundup, Monsanto is angry and accusing the agency of having an ulterior motive, and that they are picking certain data in support of its claim. Monsanto's VP said that WHO's claim goes against other studies that has tested glyphosate's safety. The recent claim demonstrates the different interpretations for the same data, and how politically complicated a change in decisions can be. Glyphosate is not only used in Roundup but in other generic products as well since its introduction in 1970 because it was considered to be non harmful in comparison to other pesticides. The California Office of Environmental Health Hazard Assessment said it was still evaluating whether glyphosate and products containing it is labeled as a cancer hazard. Some groups use this controversy in its favor to enforce the labeling of genetically modified foods (GMOs). They also want the EPA to re-evaluate glyphosate and 2,4-D, another herbicide. The different in interpretation comes form what questions and answers each agency is looking for. Currently, there is only a brief paper that has published WHO's conclusion, so it is hard to say what the thought process was behind it. Monsanto said that something can be considered carcinogenic even though it has very few evidence for a positive study.
I think the findings of this study show that there are good points from both side. I believe that Monsanto is angry because this finding, if taken seriously, will impact his company. I am glad that the WHO agency brought this topic back up because pesticide is used everyday, and a product should not continued to be used if it is not safe. I think that the WHO agency has the people's best interest while the company behind Roundup does not have the people's best interest.
Link 1: Original Article
Link 2: Supplement
Genetic Cause of Increased Leukemia Risk Identified
Scientists from the University of Colorado Cancer
Center have determined that a mutation in the ETV6 gene is the genetic cause of
acute lymphoblastic leukemia (ALL). The
ETV6 gene is a gene that encodes a transcription factor required for the
formation of blood cells and for maintaining the arrangement of blood vessels
in the body. Much like how the identification
of the BRCA gene mutation allowed doctors to predict the development of breast
and ovarian cancer, the identification of the ETV6 gene mutation may grant
doctors the ability to predict the development of ALL. The identification of the ETV6 gene mutation
may also help doctors to develop strategies to prevent ALL.
Dr. Chris Porter, an investigator at
the CU Cancer Center, stated that the study began with the performance of whole
exome sequencing on a family that had an unusually high rate of ALL. The sequencing data obtained from the
high-risk genomes were compared to normal-risk healthy genomes. During the examination of the two genomes,
bioinformaticist Ken Jones realized that a mutation in the ETV6 gene was the only
difference between them.
Previous studies have revealed that
somatic mutations of the ETV6 gene are associated with the development of blood
cancers. Somatic mutations of the gene,
however, require the help of other mutations in order to cause ALL. Germline mutations of the ETV6 gene create
the possibility of the development of leukemia from birth. Dr. Chris Porter stated that he and his colleagues
hope to conduct future studies to help reveal the prevalence of the mutation of
the ETV6 gene.
I think the findings of this study
are exciting because people will now be able to know if they are likely to be affected
by ALL and will be provided with the opportunity to prepare and take steps to catch it early in development. Hopefully future studies will
help provide strategies on how to help prevent the development of ALL.
Can genetic testing be anonymous?
A recent article in the New York Times discusses whether or not genetic testing can be anonymous. 23andMe has made a $60 million deal with the bioresearch company Genetech that gave Genetech access to the database of their genetic information, as well as 13 deals with other partners. Genetic information is useful in predicting the effects of genetic diseases, but things like environment, stress, exercise and diet also can affect the outcome. Having a large database of genetic information causes problems with some due to the fact that they are targets of genetic identity theft and allows for invasion of privacy. The article continues on with why having such a database and giving access to it would be a bad idea: in 2013, one researcher tracked down five people that were randomly selected from a database using only DNA, their age, and the state in which they lived, and then continued on to track down a number of their relatives. This shows that it isn't difficult to invade someones privacy and surpass anonymity with just DNA. It also stated that scientists in Israel showed that the DNA from the database, even though anonymous, could be used to manipulate crime scenes and corrupt evidence.
23andMe has stated in an earlier version of the article that finding a customer's identity with little genetic information isn't possible, but having databases such as these could still be dangerous. They claim on their website that multiple levels of encryption and security protocols protecting personal information, but we all know that anything accessible on the internet isn't always safe. I feel like it's a cool idea to be able to find out any information that your DNA can tell you, but also to just be careful where and how you get the information.
Woolly Mammoths: a Step Closer to Jurassic-Park-Like Recreation
A recent posting from the popular science website IFLScience entitled "Scientists Successfully Insert Woolly Mammoth DNA into Elephant Genome" has allowed for Jurassic Park dreams to come to life. Recently, a team of
Harvard geneticists lead by George Church have been able to successfully
implant Woolly Mammoths genes into the elephant genome. Woolly Mammoths, one of
the more well-known extinct species, appeared around 2 million years ago and went
extinct around 4,000 years ago after the last surviving population died out on
an Island in the Arctic Ocean about 6,000 years after the majority of their
species. Because Woolly Mammoths lived primarily in tundra landscapes, many of
their carcasses have been discovered in excellent condition due to the protection
the permafrost offered them from decomposition. While their bodies remained
fairly intact, their DNA was not as lasting. DNA degrades over time, icy
preservation or not, thus leading to mere shards of the Mammoth genome being
discovered with the carcasses. While this seems like a discouraging issue,
Church’s team as well as others, have been looking to merge some of the
fragmented bits of genetic material found with the genome of the Woolly
Mammoths most closely related living species, the Asian elephant. Using
relatively new techniques to carefully cut at the elephant genome, Church’s
team was able to successfully insert 14 Woolly Mammoth genes into the DNA of living
elephant cells, focusing on genes associated with surviving in frigid
landscapes. The Mammoth DNA shreds were extracted from some of latest surviving
Woolly Mammoths, those that had survived past most of their species on Wrangle
Island in the Arctic Ocean. The elephant cells with inserted Mammoth DNA have
been successfully functioning, Church reported to the Sunday Times .
While this experiment is certainly revolutionary, Church and his team have yet
to publish their work in any science journal because, as Church says, “there is
more work to do”. As in the case of Jurassic Park, this work brings up the
ethics behind recreating an extinct species. While Church believes the
reintroduction of Woolly Mammoths may help the declining Siberian permafrost , there is also debate against recreating this ancient species and the ethics
of “playing God” (the irony of Church’s last name really adds to this argument,
in my opinion).
FDA Lift Restrictions On 23andME
The New York Times published an article "F.D.A. Reverses Course On 23Andme Dna Test In Move To EaseRestrictions." The article discussed 23andME, which is a genetic testing company and in late 2013 the company had to stop offering health-related testing with the genetic tests because of the FDA. The FDA said that they needed their approval before they could market the results. But just recently the FDA gave approval for the information to be released in regards to a rare disorder, Blood syndrome. Along with this approval, they also got the go-ahead, in general, carrier tests. 23andME declined the statement that they would offer health information again at the moment, but hope they can once again soon. They also have deals with Pfizer and Genentech, where they do research with the data obtained from the company’s customers. The carrier test is that if two people are a carrier for a certain disease, then their child has a chance of getting the disease, such as with cystic fibrosis and Bloom syndrome. If the carrier test shows that both parents are carriers then the parents can take that information into consideration. The Bloom syndrome test was approved by demonstrating the accuracy of the carrier test.
The whole idea of 23andME in general is really cool to me, and after we talked about it in class it really made me want to do one for myself as well. And in class we mentioned that the problems they were having with putting up the health risks for individuals, which I think could be very helpful and insightful. So, the fact that they are gaining approval from the FDA is a great thing because many people can benefit from these findings. Especially with the carrier tests, since they showed how accurate the test was. And if people are not very concerned about their health risks enough to go to a doctor, it could be beneficial to go onto 23andME and they can see their risks and if they see anything alarming then they could consult with a doctor. Overall, I really like the concept that 23andME encompasses.
New Genetic Test for Breast Cancer Hold Promise
Genetic screening for breast cancer and ovarian cancer is a very costly yet important test for all middle aged women. Due to the expensive cost, most women are neglected of a life saving screening. Thanks to a new Silicon Valley start up, a cheaper yet efficient testing for breast and ovarian cancer has emerged. This new screening only requires a sample of saliva to test for mutations in high risks genes and it only costs a fraction of what a normal screening would cost. Although these lower prices will allow more women to take the screening, they can also result in more women being told that they have mutations that cannot be classified as either dangerous or benign. A normal screening may be more expensive but it would provide a complete analysis of all mutations found in order to provide a more definitive answer.
http://www.nytimes.com/2015/04/21/business/more-accurate-affordable-tests-for-detecting-breast-cancer-genes.html?_r=0
This article was very interesting to me. I know a lot of people who do not have the means of taking a breast cancer screening and that this new saliva test would definitely be a good way to screen people. I do agree with the article noting that this may lead to false positives due to the automated nature of the saliva test. This is a great first step in detecting risk probability of certain cancers in women, but it is missing certain elements such as genetic counseling and and extensive testing of the mutations in the risk genes.
http://www.nytimes.com/2015/04/21/business/more-accurate-affordable-tests-for-detecting-breast-cancer-genes.html?_r=0
This article was very interesting to me. I know a lot of people who do not have the means of taking a breast cancer screening and that this new saliva test would definitely be a good way to screen people. I do agree with the article noting that this may lead to false positives due to the automated nature of the saliva test. This is a great first step in detecting risk probability of certain cancers in women, but it is missing certain elements such as genetic counseling and and extensive testing of the mutations in the risk genes.
Friday, March 27, 2015
Hope For Those Suffering From Colorblindness
Colorblindness, although it may appear like a small inconvenience to
the majority of people who do not suffer from the disorder, it is
severely life altering. Many career paths require proper color vision,
for example fire fighters, electricians, and pilots. Even daily
activities, like driving in the dark are extremely dangerous for
individuals from colorblindness. This disorder controls the lives of
over 10 million Americans. Due to the fact it is a X-linked gene, it
predominates in males. It only affects 0.5% of females, however 8% of
males. This trait causes confusion between blue and yellow or red and
green.
One couple, Jay and Maureen Neitz have been excelling in their efforts to cure people of color blindness. Using gene therapy directed at the retina, new genes are administered that respond to color. These scientist together have practiced their techniques and surgically cured a squirrel monkey of colorblindness. Unfortunately, this method they established six years ago is too risky for human patients. Consequently, a nonsurgical treatment is demanded and researched by a team at the University of California. Their method of delivering new genes to the retina is through injections into the vitreous humor. This is a clear gel filling most of the eyeball, inevitably establishing it’s structure. Researchers claim this treatment method will reach human patients within a couple years.Gene therapy treatment research is skyrocketing. I cannot conceptualize the quantity of cures for genetic disorder scientist will safety establish in the coming years. In particular, colorblindness is an important genetic disorder to cure, because it affects the life's of even those without the disorder. Imagine a time you ran a red light because you saw a green arrow, now imagine how many people confuse these red and green lights due to their genetic predisposition. Many life's will benefit from this up and coming treatment.
Unaffected individuals see the number seventy four, while this of red-green deficiencies identify the number as twenty-one. Absence of a number foretells full color blindness |
For the original news article or additional tests click here.
Thursday, March 26, 2015
Clues to Disease Causing Genes
The New York Times recently published an article titled "In Iceland's DNA, New Clues to Disease Causing Genes." The article discusses how a research team from Iceland has decoded over 2,500 genomes, which can then be applied to other individuals genomes. When comparing data, researchers were able to track the presence of certain mutations and compare the mutations to different diseases. By doing this, they were able to state that certain mutations may encourage certain diseases to affect the individual.
Researchers looked at a variety of different genes and linked the mutations to certain illnesses (for example, MYL4 and atrial fibrillation). Having the knowledge of mutations that lead to certain outcomes can make a new area of drug treatment. There would not only be early prevention, but researchers could try to create medications to alleviate these diseases.
Researchers also found a really cool and interesting mutation that regulates thyroid hormone production. Depending on which parent the individual inherited it from, production will either be higher or lower.
I think that it's really interesting that such a large genome is being built, and its not just to look at traits. Studying the linkage of mutations and disease provides so much data for pharmaceutical development, and can even encourage people to take preventative measures. Saying someone needs to eat better or do something because they have mutations that link to certain diseases is much more effective than saying there's a chance. Overall, this is really neat and I hope something like this makes it over to the US.
Link 2: http://www.nature.com/ng/focus/icelanders/index.html
Link 2: http://www.nature.com/ng/focus/icelanders/index.html
Scientists reveal genetic root of prostate cancer
Tumor samples of 10 men
with prostate cancer were analyzed and used to make a map genetic happenings
within the prostate cancer. Through this
research, it was found that the primary group of cells that spread from the
prostate continue to travel through the body and develop new tumors. It was also found that the primary travelling
cells shared a common ancestor cell in the prostate. Although cells that were taken from different
parts of the prostate were genetically different from one another, the cancer
cells moving away from the prostate shared genetic faults. This research is still in its infancy but in
time, researchers may discover more weaknesses in prostate cancer.
Prostate cancer is one
of the most common cancers found in men.
I found this article to be very interesting in how it not only studied a
prostate cancer but also how it studied prostate cancer when it
metastasized. It was interesting to
understand the importance of how a moving cancer cell still shared common genes
with the cancer cells it branched off of.
This is a promising study and it definitely opens a lot of potential
treatments for cancer.
Wednesday, March 25, 2015
Potential End of The Antibiotic Era
As most of us probably know
bacteria are becoming resistant to our common antibiotics. This is in large
part due to the overprescription of antibiotics and patients not completing the
dosage. The bacteria that survive then become resistant to that given
antibiotic and a stronger one is then required. This vicious cycle continues
until antibiotics are no longer effective against the strain of bacteria. Carbapenem,
which is one of the strongest antibiotics available today, is even becoming
ineffective against bacteria. This strain of carbapenem-resistant
enterobacteriaceae is
extremely dangerous and 50% of patients die from it. Two genes are primarily
responsible for this, KPC, and NDM-1. Researchers of this article suggest that
it is going to get easier and easier for these bacteria to pick up a gene that
is carbapenem resistant. As time goes there is more and more of a chance for
one of these superbugs to be passed on to a human.
I believe that this article is of great importance for everyone in the
scientific community. It would be a very scary world if all of
our antibiotics stopped working. I think it would be very interesting
if geneticists could find a way to prevent the spread of the KPC and NDM-1
mutations from being passed into bacteria. Maybe as technology increases we can
find more measures to prevent antibiotic resistance form spreading.
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