The Collaborative Study on the Genetics of Alcoholism: Overview

This article covers a large and diverse study of Alcohol use disorder (AUD). This study includes data on over 17,000 individuals that are affected by AUD. Families were chosen for this study that had at least 3 affected individuals in order to focus on familial risk. Data collected from individuals in this study include brain function, psychiatric diagnosis, brain behavior, and genomes. This database has been developing for decades and the data collected has been used to study the cellular levels of underlying AUD. This article emphasizes the importance of finding the risk as well as the resilience to AUD over an individuals life. 

One essential part of this article and study as a whole is that this data is available to other databases. The availability of this data allows others to incorporate, add to, and further investigate the impacts of AUD. This is extremely important as it opens up a promising future to the study of AUD which could lead to new avenues of prevention and intervention.

Links:

https://onlinelibrary.wiley.com/doi/full/10.1111/gbb.12864

https://my.clevelandclinic.org/health/diseases/3909-alcoholism

New DNA Storage Method Inspired By Jurassic Park

DNA is at the very heart of genetics and is the center of research and experimentation. Not all DNA can be used and analyzed right away and therefore must be stored. Researchers may simply want to store DNA so it can be used again in the future or even store it for preservation. DNA degrades over time, but that level of chemical degradation depends on various factors like type of DNA, temperature of storage, intended use, and length of time. In the most common form of storage in liquid nitrogen, DNA can last for decades. This method costs a lot for the constant need for cooling and energy consumption and upkeep of the researchers. Constant thawing and freezing can sometimes affect the life cycle of DNA but if it is kept at a relatively low temp it is no problem.

A solution for DNA storage recently came about after researchers developed a new form of storage inspired by the movie “Jurassic Park.” The researchers developed a glassy, amber-like polymer which is intended to be used in the long term storage of DNA, such as entire genomes or digital files like pictures. Unlike traditional methods of storing DNA, like using ultra-low temperatures, these polymers do not require freezing temperatures which require a large amount of energy consumption and are difficult to have in all parts of the world. The polymers can be stored at room temperature and still provide the same longevity and enhanced protection compared to its liquid nitrogen counterpart. The researchers have proven the ability to store an entire human genome, the Jurassic Park theme song encoded in DNA, and its ability to withstand 75 degrees Celsius. They are nearly complete in their process of making the polymer storage mainstream but need a method of streamlining the process of making capsules for the storage. 

This is groundbreaking because the DNA storage method has consistently been in the use of expensive liquid nitrogen storage. As mentioned above, that storage is expensive, difficult to maintain and not possible all over the world, and also requires a careful process to ensure optimum temperatures at all times. The new process could be great in the research field and especially in places where traditional storage methods are difficult to implement and maintain. The amount of research worldwide could skyrocket if more laboratories have access to efficient storage.

Links:

https://news.mit.edu/2024/scientists-preserve-dna-amber-polymer-0613

https://www.news-medical.net/life-sciences/How-to-Store-DNA.aspx

Why are Labrador Retrievers always hungry?

Why are Labrador Retrievers always hungry? 

A group of researchers wanted to get a deeper understanding of canine obesity. One breed that always seems to be overweight is the Labrador Retriever. Many owners of this breed say that it does not seem like their dogs ever get full. After conducting a study, it was found that in some Labrador Retrievers and other flat coat breeds similar, there is a gene variation called POMC. One of the responsibilities of this gene is to act as  that "off" button and to not eat anymore. All of the dogs that were used in this experiment did not have the POMC deletion. However, a majority of the labs that were tested did have this mutation. Researchers also noticed that POMC deletion was associated with a 2 kg weight increase. A dog with this mutation would have a harder time of staying slim. They are using this information about canine obesity as a transition into human health. 

Link: https://www.sciencedaily.com/releases/2016/05/160503130342.htm

Second Link: https://www.cell.com/cell-metabolism/fulltext/S1550-4131(16)30163-2?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1550413116301632%3Fshowall%3Dtrue

Scientists Pinpoint a Gene that is Linked to Left-Handedness

Scientists have officially found four spots in our DNA that are associated in determine whether we write with our right and left hand. Of the four gene regions, three of them deal with proteins involved in brain development and structure. This was deduced from a study of genetics analysis across 400,00 people in the United Kingdom. Of these 400,000, 38,000 of these people were left handed. This study also found that these people that were left handed communicated between the language regions of their right and left brain more efficiently than those in the study that are right handed. This means that they have some sort of "advantage" in verbal tasks. Also, various studies of twins show that genes account for 25% of the variation in left or right handedness. Another study found that the link between left handedness and their respective genetic regions also deal with Parkinson's disease and and schizophrenia. Left handed individuals have a slightly reduced risk of Parkinson's disease, but also have a slightly increase risk for schizophrenia. I think this is a remarkable discovery and is a surprise to me, considering that I believed right or left handedness was simply based upon which hand your parents helped to teach you to write with, or whichever had you took and immediate preference to.

Original Article: https://www.usnews.com/news/health-news/articles/2019-09-05/scientists-id-genes-tied-to-left-handedness
Supporting Article: https://geneticliteracyproject.org/2016/08/29/left-handedness-genes-and-a-matter-of-chance/

Prion Disease

Prion diseases are complicated and often fatal illnesses. This specific prion disease is known as kuru, or the cannibalism disorder. Although extremely rare, it is devastating, and resistance may be attainable. People with a mutation on codon 129 of the prion protein seem to be less susceptible to prion diseases if they have one or two copies. When tested on mice, it was found that a different codon, codon 127, made mice completely resistant when it was mutated. The research shows the reason behind this is because the mutation on codon 127 prevents the prion protein from becoming misshapen, which is what causes the disease.
Researchers are currently working on determining the structure of the mutated protein, and trying to use it as a defence in other diseases. I hope it is successful.



original link: https://www.nature.com/news/genetic-mutation-blocks-prion-disease-1.17725
related link: https://www.nature.com/articles/gim201032

Vitamin A and Brain Response

Researchers have been trying to find a link between and photoperiodism in animals, by studying monarch butterflies. According to the article, there is genetic evidence that not only is the photoperiod clock real but that it regulates a Vitamin A pathway necessary for seasonal responses. So far, the group working on this have been able to locate and alter key biological clock genes within the genome. However there are some difficulties, including the fact that vitamin A is important in visual function, so they have to do extra work to show that the lack of visuals are not responsible for lack of response.

In the article, they talked about how this research could provide information on seasonal ailments in humans like seasonal depression. I have several friends with seasonal depression and I would love it if there could be more information on it. This research seems very interesting, and there seems to be a lot they can do with it. I will be keeping an eye out to know more on what they find.


Article: https://www.sciencedaily.com/releases/2019/12/191206114559.htm
Related Article: https://www.sciencedirect.com/topics/agricultural-and-biological-sciences/photoperiodism

Hiding Bacteria

Researchers found that the bacteria Group A Streptococcus has the ability to attach itself to red blood cells to hide from immune cells. Using nanotechnology, the team was able to track the bacteria and and its secreted protein s (named such because it is only made by the Streptococcus genus). Further analysis showed that S made the bacteria more deadly and harder to kill in the mice it affected. They are going to study it further to see if the information can help them combat other types of Streptococcus and more importantly lead to a vaccine.
This is an amazing discovery! This bacteria has a hand in many diseases and if someone can figure out how it is so effective many people can be saved a year. I would love to read more about what they find because of this protein.

Article: https://www.sciencedaily.com/releases/2019/12/191203114506.htm
Related Article: https://nccid.ca/debrief/group-a-streptococcus/

The study of human heredity got its start in insane asylums

Article: https://www.sciencenews.org/article/study-human-heredity-got-its-start-insane-asylums
Relating Article: https://www.nature.com/articles/d41586-018-05313-8




King George III's descent into madness sparked efforts to untangle the inheritance of mental illness by analyzing patient records at insane asylums as depicted in the above photo representing London's Bethiem Hospital in 1735.
The study of heredity emerged as an international endevour to mine data for associations to explain mental illness. It started with good intentions. Many asylum founders of the late 18th and early 19th centuries hoped to cure people of mental illness through a humane, psychosocial "moral therapy". At first, asylums claimed absurdly high 'cure' rates. Reports of 50% were routine. However by the mid-nineteenth century, asylum directors realized that they could simply say that although a cure seems distant, statistical patterns discovered in ever-larger study populations will one day reveal a cause, and a cure will follow. People bought it and asylum science grew. Eventually, having eliminating previous known causes for mental illness, scientist fixed on the patients' pedigrees. They promised to find more data and genes for diseases. After the 1927 Supreme Court decision Buck v. bell, the US programs forced sterilization on tens of thousands of people deemed mentally deficient. They launched their wider programs by gathering more than 10,000 people from asylums all over southern Germany.


This was a very interesting article to have read. These connections made so early on in history paved the way for future research. These connections are roots to today's genomics industry the tree. In the article it states that some will reject this idea, however the author of this article suspects that there is well-documented evidence to prove this making it difficult to dismiss.

Cure for the Common Cold?

A protein that is inside of humans is used by many viruses to replicate. In research on mice and human cells where this protein is lacking, viruses could not replicate. Researchers at Stanford University used CRISPER to deleted chunks of DNA, each missing a gene, so they can no longer make a specific protein. These chunks of genes were infected with viruses and studied to determine which proteins were interacting with viral proteins. The one protein that repeatedly interacted was SETD3, which was previously known as an actin protein helping muscles contract. Engineered Mice and human lung cells made to lack the SETD3 gene did not get sick when infected with viruses. To further surprise, this gene could also affect getting sick from diseases other than the common cold. With this new knowledge drugs can be synthesised to block the human protein and the viral from interacting, but complicated targeted treatments like this are not going to be available for prescriptions any time soon. Even so, it is always nice to know the expansion of science is working to make life better for those who are sick. I hope some form of treatment becomes available, and they are able to find cures for as many viruses that respond to the SETD3 protein as possible.

original link: https://www.sciencenews.org/article/common-cold-virus-disable-protein
related link: https://www.contagionlive.com/news/disabling-setd3-gene-could-halt-viral-infections

Malaria Breakthrough

Article: https://www.sciencedaily.com/releases/2019/11/191114115920.htm
Related Article: https://www.cdc.gov/parasites/malaria/index.html

Malaria is a disease that despite the many people working on it, still affects more than 400,000 people. It is transmitted through mosquitoes who are infected with a parasite, and can be found in a variety of areas.

Researchers have carried out a study where they took the genome of the malaria parasite Plasmodium, and deleted parts of it to see what it would do to the parasite's life cycle. They used this on 1300 different genes. The results of this was analyzed to find metabolic pathways for the parasite, allowing them to make predictions on which genes are important for malaria control.

I think this is impressive, they put in a lot of work to target 1300 genes, I would be very interested in hearing about what they do with the information they received from this experiment. Likely, they will be able to find use for this information within the next few years.

Gene that results in uncombable hair?

3 Genes are resulting in kids having "uncombable hair syndrome

The name "uncombable hair syndrome" is in fact its official name. This is when individuals (in most cases children) have frizzy, tangles hair and is pretty much nearly impossible to get a brush through, and it is extremely rare. Fortunately in most cases this occurs in children and is grown out of. Very few cases are permanent. What causes the hair to have so many tangles is the structure of the hair follicle and its shaft. In normal hair, the shaft appears to be completely smooth, whereas in someone with uncombable hair syndrome, the shaft appears to have rough ridged throughout. Scientists have concluded that the origin of this syndrome is genetic, due to the fact that there family members that express the same trait. This can be tracked using a pedigree. Though scientists knew that this was definitely a genetic factor, nobody could determine what gene was being mutated to cause this syndrome. That was until Regina Betz, a scientist who works for the Institute of Human Genetics at the University on Bonn in Germany decided to launch a study. She and her team of researchers gathered many affected kids from across Europe and sequenced their DNA along with individuals who are unaffected to compare the two. After analyzing them next to each other, the found that there are a total of three genes that contribute to having uncontrollable hair. Betz determined that a mutation on just one of these genes is enough to cause someones hair to become uncombable. Next Betz decided to conduct an experiment to determine why these mutations are resulting in a change in an individuals hair by growing cells with and without mutation. She found that the genes that contribute to someone possession strong hair tare the same genes that are creating a protein that forms messy clumps. To further the research, they tested the grown cells with the mutation on mice. The same result occurred in mice, mice with the mutated gene had hair that was not smooth, and normal mice possessed smooth hair.

Original Article: https://www.sciencenewsforstudents.org/article/scientists-find-genes-make-some-kids-hair-uncombable

Supporting Article: https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome

Genomic Prediction

The Genomic Prediction has developed genetic screening tests that can identify low IQ in IVF embryos. These tests have not been used on any embryos yet. To limit ethical concerns, the Genomic Prediction stated that they will only be using this testing to screen for embryos that may have mental disabilities. In the future, researchers believe that they will be able to scan for embryos with high IQs. While it has been possible to screen for IVF embryos for certain things such as cystic fibrosis or Down’s Syndrome, it is difficult to screen for conditions that are influenced by hundreds of genes such as intelligence. These tests cannot predict the IQ of each embryo, but they can identify the outliers. 

I support the Genomic Prediction’s decision to not help prospective parents select for their embryos based on high-IQ. While these tests are groundbreaking, I do not think that they should be used in every circumstance. I’m sure that another country will create a similar technology and actually allow their citizens to select their IVF embryos based on IQ. However, I think more testing needs to be done before countries even begin to think about allowing any parent to use this technology. For example, not enough information is known yet to fully understand the consequences of selecting for the IVF embryos with the highest IQs.

Chinese Scientist Claims to Use Crispr to Make First Genetically Edited Babies

          Ever since CRISPR, a type of gene editing process, became prevalent scientists have worked hard to perfect the process and be sure not abuse it's powerful abilities.  Even some nations banned scientists from having the ability to genetically modify human beings, due to the fact of having the ability to alter a child's I.Q. to the color of their eyes.  CRISPR was meant to be used to genetically engineer life-threading medical conditions and diseases, not the ability to be smart or athletic.
          On Monday, November 26, 2018 the unimaginable came true and a scientist from China, He Jiankui, announced before the Second International Summit on Human Genome Editing in Hong Kong, that he genetically edited two girls who were just born this month.  Before implanting the embryos in the mother's womb, scientist Jiankui edited the babies to be resistant to the H.I.V. infection.  The only thing is that He Jiankui did not provide any data or evidence to prove his work in the lab.  Dr. He claims that he found a male who had H.I.V. and then used in vitro fertilization to produce embryos resistant to the viruses that can cause AIDS.  He used CRISPR-CAS9 to disable CCR, a specific gene that produces the protein H.I.V. needs to enter cells.
          Even though it is illegal to do such actions in the United States, it was not yet illegal in China, but other Chinese scientists do not agree with Dr. He's actions and believe what he did was crazy.  A group of researchers believe what he did was unethical because there are other ways H.I.V. can be prevented in newborns and ruins the reputation of Chinese science so far.  Dr. He then states that "I feel a strong responsibility that it's not just to make a first, but also make it an example""Society will decide what to do next." (Kolata and Wee and Belluck, 2018) Some question why Dr. He did something medically unnecessary, what do you believe about his research?

https://www.nytimes.com/2018/11/26/health/gene-editing-babies-china.html?rref=collection%2Fsectioncollection%2Fhealth&action=click&contentCollection=health&region=rank&module=package&version=highlights&contentPlacement=1&pgtype=sectionfront  

https://www.nbcnews.com/health/health-news/chinese-scientist-says-he-made-gene-edited-twins-using-crispr-n940026

How the EMSY Gene Can Be Connected With Peanut Allergies!

In the article "New Genetic Clue to Peanut Allergy", Canadian scientists reveal a study they have been working on that pinpoints a new gene that is associated with peanut allergy.  At the University of British Columbia, they have provided further evidence towards the discovery of how genes play a role in food allergies.  Within this study, they found that the gene c11orf30/EMSY (or the EMSY gene), is one of the protein coding genes that indeed is connected to peanut allergies.  This EMSY gene has already been known to play a role in conditions such as asthma and eczema, but it just opened a whole new window into the study of how allergies are brought up in the human body.

Allergies have been found to be caused by environmental factors AND genetic factors, leading geneticists to be able to form new treatments for people suffering with allergic conditions such as peanut allergies.  I think this is amazing because these allergies are becoming more common and more dangerous.  I know so many people with a list of allergies, as well as eczema and asthma.  Research like this is necessary in order to be able to benefit peoples lives who are dealing with allergies each and every day.

https://www.sciencedaily.com/releases/2017/10/171011120406.htm
http://www.genecards.org/cgi-bin/carddisp.pl?gene=EMSY

Microbial Therapeutics

Bacteria are normally thought of as harmful or infectious. However, a growing field known as microbial therapeutics makes bacteria beneficial to humans. The bacteria would act like secret agents and release medicine only when instructed to. The release of the medicine to one particular area increases the efficiency of the medicine in comparison to a medicine given to the entire body. In order to induce the release of the medicine, a ultrasound machine will gently heat up the desired area. This therapy seems to most useful for cancer and diseases of the gut. The research done so far on mice has been able to show how the temperature increase causes the release of the drug and also once the temperature gets too high, like a fever, the bacteria no longer releases it. The bacteria then has an on and off switch.
Taking things a step further, the research has also shown that the newly engineered bacteria in the patient could also be programmed to self-destruct after leaving the body. The decrease in temperature from the inside the body to the outside world, could activate a genetic switch to destruct. One of studies have shown that the engineered bacteria can release a tumor destroying drug, hemolysin directed to the tumor. The mechanism of genetically modifying the bacteria involves two proteins, one from a virus, bacteriophage and one from Salmonella. Both of the proteins bind to the DNA to turn the genetic code on or off in response to temperature.

The idea that medicine can be dispensed from a bacteria is quite genius and the fact that it can also be temperature controlled is out of this world. The scientists working on this seem to have put a lot of time into every last detail of this creation and I cannot wait to see how it affects our world. I wonder how many different conditions this can help after more research is done. 

Sources:

https://www.sciencedaily.com/releases/2016/11/161114142353.htm

http://digital.csic.es/bitstream/10261/127912/1/COBIOT-D-15-00008R1.pdf

Beagles Linked with Human Gene Deficiency

In this article, researchers found that DNA in beagles are linked to social disorders in people. There are five genes in a beagle, which are linked to their social behavior. Four out of the five genes have been found in humans who has social disabilities such as schizophrenia, autism, and aggression. A specific gene, SEZ6L, was the specific gene observed when researching the beagles. What researchers found was that even though in humans these genes make them socially awkward, it is actually beneficial for the beagles.

The researchers performed an experiment. There were three different treats under three glass plates. (One under each plate). The last plate was screwed in, making it impossible for the dog to get. The dog at first thought getting the treats was easy, considering the first two treats were eaten within seconds of trying to get them. It seemed that when the beagle tried to get the third treat and could not, he looked to the human in the room for help. Showing some social skills other animals such as wolves would not show. Some researchers are unsure of how accurate this in only because the experiment was done in beagles and not other dog breeds. Further experiments with different breeds should be done. Here is more about the experiment.

I found this article so interesting because it reminds me of my dog. Trooper, my dog, is very social. When he needs me, he lets me know. He constantly brings his ball to me, puts it on my lap and makes these noises until I do something about it. It is not a cry and it is not a bark, its like he is trying to tell me what to do. He does this anytime he needs something and its actually very convenient. On the other hand, my two other dogs are not so vocal. It makes me wonder if these are coincidences or if there is a gene only in specific breeds.

Breakthrough in the Genetic Modification of Grain Crops

A recent study has led to a breakthrough in the genetic modification of grains. Despite years of experiments, it has been extremely difficult for scientists to develop an efficient method of modifying the genetics of grain crops. When transforming most crops, the typical method is to inject tissue with Agrobacterium. Agrobacterium naturally transfers hand-picked DNA to the host genome. Experimenters then stimulate the tissue to regenerate it into whole plants. The problem with this method is that Agrobacterium infects only a limited range of grain crops. 

A study by a team of researchers at DuPont led to an alternative method of transformation. These researchers added morphogenic genes to the other genes being genetically modified. Morphogenic genes are known to promote the growth of embryonic tissue; as a result of this addition, transformation rates substantially increased for maize, sugarcane, sorghum, and rice. This work expanded the range of crops that can be used for efficient genetic modification. 

Although controversial, the use of genetic modification is undoubtedly useful. According to the World Health Programme, approximately one in nine people on Earth do not have enough food to lead healthy, active lives. With a growing population, this statistic will only get worse. Genetically modified organisms offer a solution to this problem. Scientists are continually improving methods to create stronger, healthier crops. The work in this study opens the door to experiments on grain crops. This can turn out to be a massive breakthrough in the world hunger crisis.

Superhero DNA?

       This research is being performed on individuals who are healthy and have a genetic predisposition towards developing a serious illness or condition. It is fascinating to see how people can be resistant to illnesses, such as cystic fibrosis, because their genome caused them to. Cystic fibrosis is a condition caused by a single gene mutation. I want to look further into this and discover how exactly they can be resistant and stay healthy when they have these mutations that predisposition them to have the illness. Also, like Bob Williamson from the University of Melbourne, I am happy that they decided to focus on health participants for the study instead of those who are ill. This gives a new perspective on the study, and it can give viewpoint how the genomes of the participants are resistant. This opens a door to many more possibilities to be discovered than what can be found if ill participants were studied. It is not very common that health participants are studied and that stands out to me, personally.

      With this research, we could expand into finding more information on illnesses such as cancer, type 2 diabetes, and cystic fibrosis.

Anorexia: genetic and environmental risk factors uncovered

           Anorexia nervosa is a major problem in today’s society and is ranked with the highest mortality rate of any psychiatric disease. I am very passionate about self-health and helping others know their worth in this crazy world. Most people battling anorexia see themselves as being overweight, even when they are underweight, and they obsess about eating, food, and weight control.

           This study, led by Lori Zeltser, PhD, from Columbia University Medical Center, pointed out that although many previous animal models of anorexia have included some variables that are valuable, but there were not any that could incorporate the social stress and genetic components of anxiety and anorexia that likely contribute to anorexia in humans. Anxiety and anorexia play hand in hand in most cases that humans struggle with. Zeltser and her team exposed adolescent mice to no less than one copy of the BDNF gene variant, which has been linked to anorexia and anxiety in mice and humans. The researchers, also, put the mice on a calorie-restricted diet, and some were exposed to social isolation stress as well. I think it is so interesting that with both factors, there was such a drastic change in behavior, but with only one factor applied or the other, there was very little change. It fascinates me how actions that are displayed in humans such as anorexia, responses to peer pressure, and even a desire to be thin can be easily replicated in mice. It is shocking how such a complex species, such as humans, can be studied by testing not as complex species, such as mice.

Uninformed Genetic Superheroes

During the formation of a person in the womb, genes combine and cross over to create the person who is born 9 months later. These individuals cane have different eye colors, hair colors, sizes and shapes because of mutations in the genes while chromosomes divided and multiplied. But sometimes, mutations are not just a variant of eye color or skin color; instead, the changes are on the inside in the form of allergies or protection against certain disease. In the case of the 13 individuals mentioned in this article, their genes protected them from illnesses that in any other person would have killed them at an early age, but the 13 people are still alive and very healthy.

Scientists for a project entitled the Resilience Project found these people while gathering data from the 23andMe genetic testing company. This data was found in the form of spit sent to the company to determine what part of the total human genome the particular genes belonged to. Out of over half a million studied genomes that the company has collected over the years, only 13 of those people showed any protection against deadly diseases; they were "resilient", and that was what formed the Resilience Project in the first place.

Logically, these people would be contacted to have their genes studied more closely, but the problem of consent arises when it is taken into account that, despite many people saying that their data could be used for research, taking part in a study that they did not sign up for is both a hassle and a stressor. This informed consent is difficult to come by, as companies that collect data typically have a policy that the people who send in data are not to be recontacted in the future except to see the results that they sent in for. Even if the people who tested positive for resilient genes were to be recontacted, getting everyone together for a study would take time and energy and supplies that the project does not have at the moment.

The study is poised to start when both consent can be obtained from these individuals and there are more of said individuals. The entire project sounds incredible and it could really help out a lot of people if the individuals were able to contribute. With genetic information like this, cures and medicine could be created that, given to the world, would be beneficial to a high degree.