Mad Cow Disease and Prions

Mad Cow Disease and Prions

Via Wikimedia Commons

What is commonly known as Mad Cow Disease in cattle manifests itself as Creutzfeldt-Jakobs Disease (or CJD) in humans. This degenerative brain disorder has a 100% fatality rate when caught and basically imposes super fast moving dementia on it's victims. The patients who catch it have problems controlling their muscles, like having difficulty walking or standing and also show loss of memory and judgement, like dementia which is caused by similar reasons. The length of time these symptoms take to show following contamination (or in some cases inheritance from parents) varys from strain to strain of CJD but can be from a few months to a few years. A lot about CJD is currently unknown, the most common theory for the cause of this disease is in something called prions, which are misfolded proteins that change other proteins to be misfolded as well if they come in contact with them. These proteins spread very quickly throughout the body.

Is there a genetic link to alcoholism?

Via onlinereport.ro

Alcohol addiction is a serious disease and can be potentially fatal.  Alcoholics have a constant craving for, increased tolerance of and physical dependence on alcohol.  Alcoholism can not be attributed to one gene.  Instead, it is the result of a combination of genetic and environmental factors.  Research shows that children of alcoholics are close to 50% more likely to become alcohol dependent themselves as compared to other children their age.  This may be in part due to the fact that children of alcoholics tend to have lower beta-endorphin levels.  Non-genetic factors of alcoholism include, but are not limited to: history of family abuse, mental illness, quality of family relationships, or prenatal exposure to alcohol.  With the help of education and interventions, those most at risk for alcoholism can greatly impact their genetic history for the better.  

High Altitude Genetic Adaptations

via National Geographic

The groups of people who have adapted to high altitudes are seen as some of the best examples of evolution, a topic we studied in depth earlier this year. This is very important because it is solid proof of evolution.  I have learned about the many adaptations that are seen in Andeans, Tibetans, and Sherpas. There is information here on the different pathways of genetic adaptation that different groups of people took as well as when the mutations occurred and how quickly they spread through the populations.

The Werewolf Disease: Hypertrichosis

Image Via  Media Cache Media Cache Congenital generalized hypertrichosis, or more commonly known as the 'werewolf syndrome' is an X-linked trait that currently effects less than 50 people of the world's massive population. Although the exact gene that causes this syndrome has yet to be found, scientists have discovered that it lays on the bottom half of the X chromosome. This disease causes excessive hair growth over the entire male body, which resembles the mythical 'werewolf'. It is possible for females to get the disease, but case studies show that because the females also have one normal X chromosome that can compensate, but they still develop patches of excessive hair growth on their bodies. Hypertrichosis is a hereditary disease, but it can also be acquired from other disorders. Diseases such as cancer, anorexia, and hyperthyroidism have been proven to be linked to this syndrome. Although there is no cure for this rare disease, the treatment process is to trace back to the disease it developed from (if it wasn't inherited) and treat that. Although this disease is less than desirable, it is not fatal, and patients have been able to live a normal life with spouses and children, combined with a taste of fame this strange disease inevitably brings. Because the disease is not deadly, scientists haven't been as adamant on this research front, but hopefully a cure for the "real-life werewolf" is coming soon.

Islet Cell Transplants: Stepping Stones for Curing Type One Diabetes

Image via Wikimedia Commons

Islet cell transplants are minimally invasive procedures that usually attempt to provide severely hypoglycemic type one diabetics with long term insulin independence. The traditional process involves the extraction and purification of insulin-producing cells from a donor pancreas and their injection into the hepatic portal vein. If all goes well, the islet cells will thrive, reproduce, and deceive the liver into producing insulin.  But although a recent studies at Northwestern Medicine hold promising results for hypoglycemic type one diabetics, researchers are still trying to find other alternatives to whole pancreas transplants for all type one diabetics. Some scientists have experimented with spider silk as a support structure for in vitro cell purification. Other research teams have tried to treat stem cells with chemotherapy and inject them back into the donor to reproduce healthy cells. And finally, some have even looked at the adrenal gland as a possible alternative to a possible receiver of islet cells instead of the liver. Nevertheless, this recent and noninvasive technique is giving hope for all those affected by type one diabetics across the globe.

People With No Pain

Photo from A Matilha

Congenital insensitivity to pain, is a rare untreatable genetic disease that makes people unable to feel pain.  They can feel light touching, like a hug or a handshake, but cannot feel a great deal of pressure. The more common version of this disease is Congenital insensitivity to pain with anhidrosis; when the senses of a person with this disease are completely normal other than the inability to sense extreme temperatures , hot or cold, disabling the body’s ability to cool itself by sweating. This is because CIPA only disrupts the development of the small nerve fibers that carry sensations of pain, heat and cold to the brain.

Sierra's bio blog

Image via new evolution designs

My over all summary of topic

The Genetics of Heart Disease

Stem Cells and Sickle Cell Anmeia

Image via Medscape

On March 2nd, 2015, a research team at UCLA published a study with a potential new cure for sickle cell anemia. The team was able to use human stem cells from blood to cure sickle cell anemia in mice. Sickle cell anemia is a disease in which the normally rounded red blood cells become elongated and sharp, turning into a "sickle" shape, hence the name. The disease can lead to severe pain, and can block blood flow to the body. The disease can even lead to early death, meaning patients may live up to 30 years shorter than the average human being. Although UCLA's study did not find an end-all-be-all cure, it shows a potential for major growth in the future. Another cure, which has been around for longer, uses a bone marrow donation from a sibling to create healthy red blood cells. The issue with this cure is that the host can reject the donation, creating other complications.

Human cloning

Image via Australian social issues

Genetic Testing: The Debate

From: Science Progress

The debate of genetic testing has been long discussed by many scientists on both sides of the issue. Genetic testing is medical test that assesses the changes in chromosomes, genes and proteins. The results of the test can help determine possible diseases and genetic disorders that a parent could pass on to a child. The problem lies in the debate on whether or not genetic testing should be used and or required. Some think that the extra knowledge is too deep rooted in the question of who can access the results of the test. If the test is required then the question of who should be allowed to access it is the main concern (for example health care providers). The positive side is knowing the chances of getting certain diseases. Cancer has been very easy to find with the genetic testing because it can test for the BRCA (genetic cancer gene) gene. This is an example of when it can save a person. This debate is coming the forefront of the genetic testing conversation. 

3D printing organs

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Via Nature

My project was on 3D printing of biological matter, and organs. The technology is developing rapidly, although there has been no fully functional organs as of yet. Working tissue has been recently developed, and soon (next 5-10 years) we might be seeing full, functional organs. Both internal and external organs can be printed, although they use different methods and materials. There has been a debate, along with 3D printing legalities in general, on the ethics of the situation. Potentially, one could 3D print an entire human body. This would allow for the first artificial humans to be created. Some people don't want that. Also, the potential for body modifications grows and maybe instead of going to the gym to get ripped, you could visit your doctor and get your own muscle 3D printed just for you. There is not much research in the field as only 5 or so papers have been published by a few groups of scientists. The potential for this technology is great, as it could theoretically remove the need for organ donors entirely.

Wilms Tumor

Image via Wikipedia

Wilms' tumor is one of the few cancers directly associated to a chromosomal defect. It is most common in young children because the defect occurs while developing in the womb and is usually not detected for a long time. The defect is found on chromosome 11 and one disease, aniridia, which causes children to be born with no irises, is also caused by a defect on chromosome 11 and this makes children 1000 times more likely to be diagnosed with wilms' tumor. Another cause is mutations in the WT1 protein, the protein which suppresses tumors. Wilms' is treated by surgery, chemotherapy, radiation, or a combination of these. During surgery, the other kidney, liver, and tissue surrounding the affected organs is tested. Wilms' tumor is more common if another family member has had it, not necessarily the parent, sometimes an uncle or cousin.