Scientists Discover Genetic Mutation That Causes Rare Skin Disease Keratolytic Winter Erythema

Scientists have now discovered the genetic mutation that is responsible for KWE in Afrikaners. The skin disease causes redness in the palms of the hands, as well as the soles of the feet followed by cycles of large areas of peeling skin. The symptoms are exaggerated in the winter, when the disease is at its peak in the cycle. A town in the Western Cape of South Africa is where it is most prevalence, affecting large families in this region. Keratolytic Winter Erythema, as well as other diseases such as familial Hypercholesterolemia, and porphyria are very common in this area as it has been observed the Afrikaner people have genetic predispositions for them. It has been a recent discovery that KWE is genetically linked instead of an environmental affect, as previously thought. Professor George Findley described the mode of inheritance as being dominant, and an unfortunate disease to have. Although this disease is extremely uncomfortable to live with, it can now be prevented in future generations with genetic counseling. I believe efforts like these to find the root of problems happening in populations are vital in society, especially when we wish to prevent them from occurring.

Medical Express

Could Genetics Influence What We Like To Eat?

Gene variants that affect the way our brain works could also affect our primary diet, and what we like to eat even if they are not good for us. Silvia Berciano, an undergrad at the University of Madrid, presents his findings and states that most have trouble changing their dietary habits because of specific brain genes that people have predetermined preferences. These preferences can make it extremely easy or extremely hard for someone to eat healthier and improve their well-being. These genes are similar to those that are said to cause anorexia and bulimia. This could also explain why this disease can be seen amongst family members. I find this article to be especially interesting because I have know individuals who were a mother and daughter who both struggled with eating disorders. I think genes can have a lot to do with one's feelings towards food.

Medical Press

Iceland's Genetic Goldmine

A fairly homogenous population, the people of Iceland prove to be very valuable to the field of genetics. The secluded society of Iceland demonstrates a term known as the founder affect which means a lot of the population descended from common ancestors. The genealogical records are incredible, having libraries of ancestors before them, accounting for most of the people in this part of the world. Kari Stefansson, the chief executive and founder of deCODE genetics, set out with his company to discover the unique genetic make up of his native land. According to his work, the Iceland population shows a larger prevalence in rare genetic variants in disease than those who are "outbred". Learning about how a disease may come about, especially with a detailed medical record of ancestors in one population, may help to prevent them from occurring again. This type of work may also help in genetic counseling to predict the likelihood of rare variants occurring in the future in populations other than in Iceland. I believe this type of work is very important, and we are very lucky to have a place like Iceland where there is a detailed history and a small population to observe.

CNBC

Cross-Cultural Evidence for the Genetics of Homosexuality

Scientists at the University Lethbridge in Canada have shown in their research there is evidence that common genetic factors underlie in homosexual preference in men in multiple cultures. In south Mexico there are individuals called muxes which describes them as being biologically male and being attracted to other males. In the Mexican culture, they are recognized as a third gender and have shown correlations with homosexual males in other cultures. There has been something recognized as the fraternal birth order effect, which means the likelihood of a male being attracted to the same sex increases if there are a multitude of older brothers born before him. In Western culture, the homosexual man recall higher levels of separation anxiety compared to the heterosexual man. This means at some point during their lifetime, they were left by an important figure. Molecular genetic studies have shown that Xq28, a region on the top of the X chromosome is responsible for both anxiety levels and and male homosexuality. This means there is a possible genetic predisposition for both in humans. As research continues on this topic, the outcome could have political affects, as some parties believe this life style is a choice while others do not. I believe it would be interesting to see if there is a real genetic reason for homosexuality and think it could help the argument of whether or not it is a personal choice, or there is a scientific reason behind it.

Scientific American

You Can Now Buy a Commercial Genetic Test, But Don't Treat it Like a Pregnancy Test

So far, commercial testing is now available for genetic diseases like Alzheimers, although it is not the "tell all" if the individual will develop the disease. The author of this article claims things like genetic testing cannot really define whether or not the disease will exist in you or your family because age has a lot to do which the way the genes are present. As beneficial as this process may sound, and be to the customer, it also poses a privacy threat amongst relatives. The information gained from tests like these not only tell a great deal about the individual's health, but those who are related to them that may not want to know the knowledge gained from the analysis. It would be unfair for a sibling to relay possible fatal information that one may not want to know. Commercializing genetic tests makes this easier to occur without the pre and post-test counseling that is put in place with professional genetic councilers. Possible consequences of this raw knowledge without speaking to a professional to fully understand the results are the effect on mental health, finances and employment prospects, life and health insurance, marriage, and childbearing. I do not believe individuals should have this information at their disclosure without truly understanding what the results mean and how it could affect family members. I believe it is not right for individuals to tell relatives their genetic background if it could endanger the way they live their lives. 

Dallas News

Ancient Horse DNA shows Scythian Warrior Were Adept Domesticators

Horse sacrificed by fierce nomad living in central asia more than 2,000 years ago have provided new insight into how people tamed the wild animals and bred them to their needs.  The scythians roamed over a vast swath from siberia to the black sea.  They were known for their equestrian battle skills, shooting bow and arrow while riding, and for the brutal treatment of those they defeated (blinded their slaves or drank the their blood). The scientist using horse skeleton to extract DNA and they were able to decipher the genomes for 11 of the 13 horse from the scythian mound, they analyzed DNA of the horse dating 4,100 years ago that belong to neighbor tribe sintashta. Who had already figured out how to use horse. From the DNA the horse are bred for certain characteristics such as thicker stockier forelimb. many genetic change also showed that change were related to the "neural crest" the cell that become the spinal cord during embryonic development, but migrate to various part of the body. The finding point out the impact that human had on the environment and the evolution of the other species for millenniums.


https://www.nytimes.com/2017/04/27/science/horses-genetics-domestication-scythians.html

Life with a Rare Genetic Disease: The science, the suffering and the Hope

Life with  a rare genetic diseases sometime can be nasty, brutish and long. Taking the ordinary difficulties of getting through the day and add loss of motor function, a deteriorating memory or block vein in the liver and a body so swollen with lymphatic fluid that cloth  and shoe no longer fit. this is a life of family member with mysterious illness which cause by "the family gene" and occasionally beset by incorrect explanation of the science. BRCA1, for example , is not a gene variant but rather a gene that can harbor any one of hundreds of rare variant or DNA spelling error, that would raise the woman's risk of breast  or ovarian cancer. for it part," mercie in disguise" sometime suffer from general humorlessness and heavy handed prose  but the patient would have deal with. while the cost of  DNA sequencing has drop and  which also help many rare-disease patient and their families find answer to question "why me?". But the completion of the human genome project is not the answer however it would let human understand our history and genetic better and find the solution.


https://www.nytimes.com/2017/04/27/books/review/mercies-in-disguise-gina-kolata-genetic-diseases.html?_r=0

Dog DNA study maps breeds across the world

Scientists have analyzed 161 breeds of dog's DNA. Over the past 20 years, dogs have been bred to do different things, depending on what they are needed for. Dogs used to be used for hunting and gathering, now there are many hybrid breeds that are available. Dogs origins can be traced to two basic places in the world the United Kingdom or the Mediterranean. Many dogs like the mastiff has not changed genetically over the years. This article was very interesting to read. Dogs are very important in the world and majority of people have them. Now with all these different dog breeds breeding together, this genetic mapping of them will allow us to better understand what dogs are good for what area.

Related Article: http://genome.cshlp.org/content/19/3/500.short

Article: https://www.sciencenews.org/blog/science-ticker/dog-dna-study-maps-breeds-across-world

     In an abandoned Montana copper mine, filled with toxic metals and a pH of 2.5, strange life forms have been growing. Extremophiles have colonized the man made lake, called the Berkeley Pit. The University of Montana has been strudying the microorganisms that inhabit the lake. Two fungi species that live in this toxic waste were found to produce a new antibiotic compound.

      This compound shows promise for futher research, being able to kill four MRSA strains, Bacillus anthracis, Streptococcus pyogenes, Candida albicans, and Candida glabrata in preliminary tests. the mode of action is different from other known antibiotics, necessitating further studies. If this compound shows low toxicity in mamals, it could be a promising new drug. There needs to be more research to determine whether this compound could be a new medical tool or a passing footnote.

scientific Article
News Article

The genome and HVC

 The only way to better comprehend how any germ or virus interact with the human body is to repeat and study a large sum of people with the certain characteristic. Researches at the University of Oxford want to provide new information of hepatitis C virus (HCV) and how the genome interacts and changes the virus. The only way to reveal more information is to study deeply within the material. A 500 patient study found within the genome two places where genetic variation in calibration with the immune system. This new found information will allow scientist to create treatments that better highlight the type of HCV that person. 

I think this information is a great step in helping patients suffering from the symptoms of HCV, they will be provided with treatments that are better suited for their specific virus. This like many other genetic mutations are coming to light, but without the technology to read the genome scientists would have no idea how to better help the lives of their patients. 

http://www.scienceandtechnologyresearchnews.com/genetic-study-reveals-hepatitis-c-interacts-humans/

https://scicasts.com/channels/genomics/2032-pharmacogenomics/12473-genetic-study-reveals-how-hepatitis-c-interacts-with-human-body/

DNA from Dirt

     Scientists in Germany, led by Matthias Meyer from the Max Planck Institute for Developmental Biology, have successfully recovered hominid DNA from cave dirt in Europe. Other researchers had previously isolated animal DNA from dirt; such as Dr. Poinar and Michael Hofreiter, who successfully identifying 16 different animal species from a tablespoon of dirt taken from Colorado.

     The scientists took samples from four caves across Eurasia. They had previously analysed DNA from Neanderthal and Denisovan skeletal remains. They amplified the presence of mitochondrial DNA and began to analyze the DNA recovered. They were able to identify the presence of ancient DNA from these ancient human relatives. This process could revolutionize the way human evolution is studied, with physical skeletal and archaeological remains no longer necessary to determine th presence of hominids.

Scientific Article
NYT Article

HIV vs. CRISPR

HIV is one of the most prolific viruses out there capable of killing not only individuals but entire communities, because of the way it spreads and humanities inability to cure it.  However new information is coming out from the Lewis Katz School of medicine at Temple University that could halt HIV in its tracks.  This new technology, which is based off of the CRISPR/Cas9 technology, was built of the premise that you could use gene editing to remove the HIV-1 gene from infected cells in an infected victim.  Recently the researchers provided a proof of concept where they removed the gene from transgenic mice.  The technology even managed to find the HIV-1 gene that was carried in latent T cells, which can usually avoid detection.  

      VS.

For the original article here 

For more information on Aids Here

New Method For Obtaining DNA Of Neanderthals Without Fossils

Link:  https://www.sciencedaily.com/releases/2017/04/170427141708.htm

More Information on Neanderthals:  http://humanorigins.si.edu/evidence/human-fossils/species/homo-neanderthalensis

DNA is a very fragile molecule, and it tends to break down quickly over time.  As a result, it can often be difficult, or even impossible, to find DNA of organisms that lived millions of years ago.  However, scientists have recently discovered a new method to obtain DNA samples from Neanderthals, even without any fossils.  They did this by collecting samples of cave sediments and searching them for mitochondrial DNA.  They were able to find the DNA of multiple species, one of which was Neanderthals.

This discovery has me very excited to find out what new information we will learn about ancient species.  I'm also curious as to how far back this method can retrieve DNA.  While I doubt that it will go back much further, due to the fragile nature of DNA, it is still exciting.

She Had a Genetics Test At Age 30, Then a Double Mastectomy

Genetic testing patient Kate Payne was diagnosed with DCIS, one of the early stages of breast cancer just as she was preparing for her wedding. After lesser treatment was not helping, Kate then received a double mastectomy by the advice of her doctor. Like actress  Angelina Jolie, Payne was first showed the presence of a ATM mutation in a blood test also known as the BRCA gene which has shown an elevated risk of breast cancer from 20 to 60 percent as high. Kate states it is the patient's responsibility to be tested, especially because she has had experience with doctors who do not believe this type pf testing is necessary because not everyone with this type of mutation develops breast cancer. This article goes to show there are many different opinions within the field of genetics, and it is best to find a professional who agrees with your beliefs to get the best care possible. I do think it is up to the patient if they wish to go through extensive testing for these types of cancers, especially if they run through the family.

The News & Observer

Bacteria Take a Deadly Risk to Survive









In order for bacteria to survive, they need to change and adapt to survive in certain circumstances and environments. Scientist at the Centre of Microbial and Plant Genetics at KU Leuven (University of Leuven), Belgium discovered that these bacteria can adapt at different rates, with this a range of problems may be addressed such as fuel all the way to medicines and treatments for certain diseases. The mutation of bacteria rises when they are under stress, but to much mutation weakens the bacteria. If the balance between the two is to high, the bacteria goes through hypermutation which ultimately kills the cell.


This research is a crucial part of our future because with the control over the balance of a bacteria's mutation will offer new perspectives on the production of biofuel. When the bacteria is put into solutions with high concentration of methanol or ethanol, the bacteria will be able to survive longer under the conditions thus raising the production of biofuel.




Links:

https://www.sciencedaily.com/releases/2017/05/170502112545.htm

https://phys.org/news/2017-05-bacteria-deadly-survive.html

Head injuries can alter hundreds of genes and lead to serious brain diseases

Research has shown that head injuries can cause damage to hundreds of genes in the brain that can cause an increase of a risk to obtain a neurological or psychiatric disorder. In the article it is said that for the first time researchers believed they found the master genes that control several hundreds of other genes that are linked to Alzheimer's disease, Parkinson's disease, post-traumatic stress disorder, stroke, attention deficit hyperactivity disorder, autism, depression, schizophrenia and other disorders. From this finding, scientists can now learn how the master genes work in order to find new pharmaceuticals to treat these brain diseases. Damage to these master genes can cause a chain effect to cause damage to other hundreds of genes as well. The damage can change the gene in two ways; the first being proteins that are produced by these genes are irregular and the second being the number of expressed copies of a gene in a cell is changed. Both of these lead to a gene not working properly and causing the wrong form of protein to be produced, leading to diseases like Alzheimer's.

This new finding is huge for scientists! This is a step for them to find new ways to treat existing head injuries and diseases but also this is a step to find new ways to repair damaged cells in the brain.

Link to article
More info

Chocolate Lovers Gene

Liking high-fat foods can now be linked to your genes. The scientists who made this discovery hope to use it for personalized dietary advice to help obese patients. This linkage occurs in the receptor gene or oxytocin; a preference for chocolate and a larger waist is linked to this hormone. Salt intake shows to be linked to CREB1 and GABRA2 loci. The study was done using a questionnaire which could cause some false results based on lying.

Original Article

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Scientists Link Gene Mutation to Autism Risk

A Group of Scientists discovered several mutations that increases the chance of a child developing autism. It was found that fathers over the age 35 increased the risk of autism. Researchers analyzed the genetic material of blood samples that were taken from the parents who birth a child with autism. This allowed them to spot the initial mutation called de novo, which is not inherited but occurs around the time of conception. De novo was spotted in several kids at the same location even when they were unrelated. The risk of de novo increased with parental age and four times more likely to rise in the DNA of a male over the age of 35.

New York Times Here
More Here 

Understanding plant responses to a limited nutrient environment

Recent work has increased the understanding of changes plant root mechanisms that occur as response to a limited environmental factor (water, nutrients, etc.). This work focused on two proteins involved in the changes of thale cress (Arabidopsis thaliana) root morphology, creating hair-like roots, in a phosphorus deficient environment. The hair-like roots are better at nutrient uptake and can increase a plants resilience to adverse conditions. The understanding of these proteins involved in the change in growth mechanisms can lead to possible genetic manipulation in future agricultural crops. With the changing climate and increase in global human populations, increasing agricultural resilience and productivity will be key to the survival of humanity.

Article:

http://www.sciencedirect.com/science/article/pii/S1534580717302022

Popular News Article:

https://www.sciencedaily.com/releases/2017/04/170424170758.htm

Video:

https://www.youtube.com/watch?v=DHNyxPdozJ4

Gene editing strategy eliminates HIV-1 virus in live mammals

Scientists have made strides toward finding a cure for the HIV-1 virus by showing that it is possible to provide prophylactic treatment via CRISPR/Cas9.  Scientists used rats and mice that had HIV-1 DNA incorporated into their genome.  They utilized CRISPR to eliminate the viral DNA from their genome. This reduced the amount of RNA expression up to 95%.  The scientists in this study also studied mice that were infected with EcoHIV, which is the mouse equivalent of the human HIV-1 virus.  CRISPR was able to block viral replication and prevent further infection with an extremely high efficiency rate of 96%.

The results of this study suggest a cure for HIV is imminent.  Their strategy was efficient and they were able to demonstrate that they could treat acute infection and latent infection.  The next step is to test in primates and eventually begin human testing.
https://www.sciencedaily.com/releases/2017/05/170501112514.htm
http://www.sciencedirect.com/science/article/pii/S1525001617301107

Genetics play role in character traits related to academic success

Researchers believe that genetics plays a hand in how a person is motivated to learn. They found that genetic variation accounted for half the differences in a person's character and that the other half was from outside influences. Genetics is a big part of the basis for character in a person. In the article, researchers observed seven educationally relevant character measures such as work ethic, enjoyment or desire to learn, attitudes toward education, and self appraised abilities. As they were observing these seven character traits, they also looked at how the character measures were associated with the personality traits: openness, conscientiousness, extraversion, agreeableness, and neuroticism. After the experiment was completed, the study showed that genetics accounted for 69 percent in the difference in character while the other 31 percent was due to outside factors. 

This finding is awesome and explains to some degree in why some people are more into their studies than others. 

Link to article

More info

Origins of Dog Breeds

In recent research, scientist were able to put together a family tree of all the dog breeds, discovering the 161 canine breeds. The research began when researches began to explore the genomes of the dogs and wanting to understand how the dogs breeds came so diverse and so many breeds exist now. The team gathered DNA samples of dogs. Samples included  dogs from competitions, shows, and the public, and dog owners had no problem being involved. Along with studying the origin of the dog breeds, this also gives researches a better understand of mutations and diseases. I think it is great that researchers are looking into the origin of dogs more in depth and taking the time to understand mutations and diseases that have been occurring more often in dogs. Dogs are now more than just  hunting and nursery tools, that have become part of our families, and learning the origin of our four legged friends is amazing.

New article

Dog genome research

DNA from Extinct Humans Discovered in Caves







Throughout the world, there are many different archaeological excavation sites throughout Europe and Asia that have given us tools and human made artifacts that give of us information of how the people of these periods lived. However when it comes to skeletal and other human remains left behind, the number is much lower. Recently, scientists at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany have discovered new ways to obtain human DNA. Over four different archaeological sites including the Vindija Cave in Croatia in the picture above, these scientists have extracted the DNA of a variety of mammals, including our human ancestors. They also collected several samples of Denisovan DNA sediments from the Denisova Cave in Russia. With the collection of these DNA samples, we now know how to collect genetic affiliations of the humans that inhabited several previously found excavation sites with no yield of human remains.




The excavation as well as the analysis of the genetic composition of these emains of gives us a clearer understanding of our own evolutionary history. There are a small amount of human remains, however, a small sample of the DNA can tell us a lot. The scientists found the DNA to twelve different mammalian families that include extinct species such as the woolly mammoth, the woolly rhinoceros, the cave bear and the cave hyena. With more research done with the skeletal remains of ancient humans and other mammals, the more we will know about human evolution and the evolution of the world over the past 10 of thousands of years.


Links:

https://www.sciencedaily.com/releases/2017/04/170427141708.htm

http://www.bbc.com/news/science-environment-39747326

Tea tree genome contains clues about how one leaf produces so many flavors

You would think that different varieties of tea would come from different plants and those different plant characteristics would be what gives the tea its distinct flavor.  However this isn't the case and in fact many of the most popular kinds of tea including green tea, black tea white tea, and chai tea all come from the leaves of the Camellia sinensis plant.  There are only two major varieties of this plant that are used commercially for making tea and geneticists wanted to determine what it is about the plants that give the diverse flavors.  Studies have shown that tea gets its flavor mainly from flavonoids, which are antioxidants that help plants survive.  The C. sinensis species has genes that code for different levels of flavonoids when compared to other Camellia species which is why they are so good for tea production.  Scientists are currently attempting to sequence the genome of this plant, however it is quite difficult because of "jumping genes" which have copied and pasted themselves into the genome.  The genome is 3.02 billion base pairs long and roughly four times larger then the coffee plants genome.  Scientists have completed the sequencing the initial genome but still have to double check the draft and sequence different tea tree varieties from around the world as environmental factors are thought to have contributed.  

Article

Scientific Journal

Something New About the Senses

There is already a fair amount of knowledge about how genetics affects the way people like certain food compared to others. But what about your own taste perceptions? Bob Holmes wrote about his experience at Monell Chemical Senses Center in Philadelphia in the article Book Excerpt from "Flavor". At the center Danielle Reed was able to analyze Holmes' DNA by a saliva sample. He them performed a taste-test where he would sip the liquid, swish it in his mouth, and spit it into a cup. He then indicated how sweet, salty, sour, and bitter it tasted; how intense of an sensation; and how much he liked it. After this was completed he was able to compare these results to his genes. The gene T1R3 contributed to the receptors for sweet and umami, Holmes was tested for a variant of that. Holmes ended up being a TT  which meant that he would be a sweet craver, however Holmes said he didn't prefer sweet things. But Reed explained that Holmes had rated the 12% sugar solution as moderately sweet and high pleasant. Holmes concluded that the link among genes, taste perceptions and actual food choices are not so simple. The sample complexity occurred with Homes bitter taste receptors. Reed then explained this confusion to me; sometimes what you taste isn't what you like, the brain can learn and correct the context. For example if you dislike bitter coffee but enjoy the wake-up jolt it gives you, it will soon become pleasant in your brain. So from this article I have learned that even though genes are connected to the kind of foods you're "supposed" to enjoy, you have the ability to over-ride the system. 

Flavor
Monell Chemical Senses Center

Discovery of new Genes that are linked to Autism

This article revolves around the new discovery of genes that are related to the learning disability autism spectrum disorder. 61 new genes were found to be related in autism but 43 were already known. Mutations found in PFH3 was found in only four families but deemed to be harmful by not regulating the structure of chromatin. Scientist now are looking for way to finding future treatment with the discoveries of these new genes. Hopefully this can finally give more insight on this troublesome disability because of now complicated it is to treat.



https://www.scientificamerican.com/article/discovery-of-18-new-autism-linked-genes-may-point-to-new-treatments/

http://www.nbcnews.com/health/health-news/dna-scan-finds-18-new-autism-genes-n729766

Is PTSD an inheritable trait?

There are many people who go through extremely traumatic events that do not develop PTSD and scientists have been wondering why some are resistant.  A new study done on PTSD, post-traumatic stress disorder, is suggesting that genetics has a large role in whether one will be plagued with the disorder. They found that women are more genetically susceptible to the disease than men. There is also a link between having schizophrenia, bipolar and depression disorders and a person’s genetic risk of developing PTSD after a trauma. Knowing more about PTSD and its genetic relationship could lead to research done in how to prevent it for soldiers if found they are susceptible.

Original Article
More on PTSD

Eliminating HIV-1

One major reason it is so hard to find a cure for HIV is that it has the ability to hide itself in latent reservoirs. Researches have just found they can extract HIV DNA from the genome of living animals to keep the virus from spreading. The scientists were able to infect mice with a human sample and successfully extracted the HIV DNA. These scientists from the Lewis Katz School of Medicine at Temple University, were the first to be able to turn off replication of the virus. This is a huge discovery because even though there is no cure for HIV, we can at least keep it from spreading which in the long run could eliminate the virus from existence.

https://www.sciencedaily.com/releases/2017/05/170501112514.htm

http://www.sciencedirect.com/science/article/pii/S1525001617301107