Wednesday, March 27, 2013
Unit Paper 2 Down Syndrome
Through this unit we studied genetics and how they function. While we studied normal functioning of genetics, we also learned some about what an happen when genes aren't coded properly. From these genetic disorders I chose to do further research on Down Syndrome. Through my life I have known several individuals with Down Syndrome, and have noticed that they all seem to be affected in different ways. I wanted to know more about why this is the case and whether it was just my perception, or if there was in fact a spectrum of effects of the disorder.
Down Syndrome is a genetic disorder caused by tripling of the 21st chromosome that is named after the physician who first described it. It wasn't until the mid twentieth century that Down Syndrome was identified as caused by chromosomal error. Although all Down Syndrome is caused by the presences of additional 21st chromosome is does not always happen in the same manner. There are three different causes of Down Syndrome. The first is called Trisomy 21, where through meiotic nondisjunction or error during the production of germ cells in the parent. The second form is called Mosaic Down Syndrome. In this form mutation happens to genetics after fertilization occurred and so some cells have the extra 21st chromosome, for a total of 47, while others have the normal 46 chromosomes. This is different from Trisomy 21 because in that case, all cells have the extra 47th chromosome. The third type of Down Syndrome is called Translocation Down Syndrome. Translocation Down Syndrome can occur because of mutations to a germ cell before fertilization, or from mutations that take place at the time of conception. In this form, the person has the two regular 21st chromosomes, but then also has a copy of a portion of the 21st chromosome that has been translocated, and attached onto another chromosome. Because there is such variation in the cause of Down Syndrome, the effects on the person can vary greatly as well. Most show similar symptoms, but for some physical and learning delays are more severe than others. Typical symptoms of Down Syndrome include certain facial structure, including flattened nose bridge, and slanted eyes, low muscle tone, and an increased risk of various medical conditions, vision, and hearing loss. Those with the condition typically are delayed in their development and achieve physical milestones later, as well as facing learning challenges.
Although we tend to group Down Syndrome together as a single disorder, there several different causes for it. Although everyone with Down Syndrome is unified by the addition of an extra chromosome 21, the effects on the person's life can be very different. I am really glad to have a greater understanding of the causes of Downs and some of the challenges that people who have it face. My children are in dance class with a girl who has Down Syndrome and absolutely love her, but have asked some questions from time to time. I hope that now I will better be able to help them understand why she is different and beautiful, and that they will continue to help her in class and be friends with such a lovely girl.
Sources:
Mayo Clinic Staff. Down Syndrome Causes. Mayo Clinic. http://www.mayoclinic.com/health/down-syndrome/DS00182/DSECTION=causes. Accessed 27 March 2013.
Down Syndrome. Kids Health. http://kidshealth.org/parent/medical/genetic/down_syndrome.html#. Accessed 27 March 2013.
Genetic Causes of Down Syndrome. Linda Crnic Institute for Down Syndrome. http://www.ucdenver.edu/academics/colleges/medicalschool/institutes/lindacrnic/Education/LearnMoreAboutDownSyndrome/Pages/GeneticCauses.aspx. Accessed 27 March 2013.
International Down Syndrome Coalition. http://www.theidsc.org/. Accessed 27 March 2013.
Part 2. Thinking About the Course
1. What one assignment or activity you performed in this unit are you the most proud of?
I really enjoyed doing the flip-a-coin genetics lab. Although it could be completed on my own, I thought it would be more fun to have my husband help with the lab so each of us could be a parent for the data collection. It was a really interesting experience reading through the information on what facial traits are dominant and recessive, and seeing how that played out through the process. I was really proud of how my drawing for this assignment of our "child" turned out. I felt like it really represented the genetics well, and the project was fun as well as very informative. It led to discussion of our own kids and what the genetic probability was for each of them to end up with the traits they have. My husband was adopted so we don't know much about his genetics. He has brown eyes, so we were surprised when 3/4 of our kids have light colored eyes. The new understanding that I took from the project was really huge for me, and I'm proud not only of what I produced, but of how I was able to apply it in a bigger way to my own life.
2. What do you now understand best about the information in this unit?
Before this unit of study I had no idea that some traits, such as eye color were controlled by multiple genes. The way that genes function and how they produce the variations they do became a lot clearer to me through doing the work for this class. The way that genes function and impact both geneotype and phenotype was fascinating and is something I definitely understand better.
3. What actions did you take for yourself to enhance learning or enjoyment of the material?
I like being able to use what I've learned to teach my kids things as well. Although I had learned some basic genetics ideas before, (primarily Mendelian Genetics) I had never gone as in depth as this course. My daughter recently attended a genetics lecture for her 4-H rabbit project, and was very confused by all the things they threw at her. Having read the course material, and completed the labs on genetics I was able to talk with her about it, and help her to have an understanding of the basics of how genetics works. It's an important thing for her to understand since she is planning on breeding her rabbit later this year, and we can look at the traits in the mother, father, and young, and have some hands on genetics training then as well. I find that retelling, or teaching information is a great way to reinforce what you have learned, so I feel like this helped me to study some as well.
4. When did you feel most “connected” with the course? Most distanced?
I really feel connected with the course through all the interactive learning. I like being able to do lab projects that aren't overly complicated but demonstrate a portion of the work very well. I really feel like the hands on aspect connects me with the material and helps me to understand it and process it in a different way. I did feel a little distanced from the class through this as well though, because on some labs I think it might be helpful to be able to see other students results as well.
5. What could I offer you to help your understanding or enjoyment of the material?
I would have loved for there to be a way to share our drawings form the coin-flip lab with our classmates. Since we all had the exact same odds on our coin flips to determine the traits of our "children" I think it would have not only been fun to see what others ended up with, but could really have reinforced the concept of the diversity of human genetics.
Sunday, March 3, 2013
Value of Reproductive Cloning
Since the cloning of a sheep named Dolly in the 1990s, cloning has been a hot button issue. Cloning is the growing of a new living thing; cell, tissue, organ, or entire plant or animal, in a manner that its DNA is identical to a currently, or previously existing one (Cloning Fact Sheet). Meiosis is the type of cell division specific to sexual reproduction, so any form of reproduction that lacks meiosis is asexual and thus is a form of natural cloning (Asexual Reproduction). Asexual reproduction is a natural form of reproductive cloning by which a cell or organism creates a replica of itself and then divides in two. Cells within the human body normally reproduce in this way. Many plants reproduce by cloning as well. Any plant that produces seeds that don't need to be fertilized by another plant to propagate is virtually cloning itself (Asexual Reproduction). We can induce this type of propagation as well sometimes, by separating parts of a plant and growing new plants from them. One relatable example is the potato. Once the tuber develops sprouts (commonly called eyes) it can be broken up, and each portion will grow a different plant with identical DNA. This type of reproductive cloning is used in agriculture. Typically though, when people think of reproductive cloning, they thing of the laboratory process of joining an adult cell with an egg to form a zygote that is then implanted into a surrogate to mature naturally until birth. (Genome)
Does reproductive cloning artificially narrow, or expand the gene pool? By adopting the use of cloning for reproductive purposes the variations in DNA that would normally happen through reproduction are eliminated. However, if used properly, the opposite could be done. If there is a low population of an endangered animal, taking cell samples from healthy adults to use for a breeding program could help to keep up genetic diversity instead of the opposite happening naturally. It could also be used to introduce new DNA into an isolated population to help widen their genetic diversity. Although a clone is considered to be genetically identical to the donor, mitochondrial DNA supplied by the egg after the nucleolus has been removed, does play a role as well. The prospect of what this could do to expand genetic diversity in dwindling populations is exciting for conservationists (Barchfield).
Is reproductive cloning very successful? Dolly the sheep's success was an amazing feat, because many in the scientific community didn't believe that differentiated adult cells could be reprogrammed to grow a new animal. Although this has been shown to be possible, often times cloning attempts fail, or result in abnormal, or deformed clones. It is thought that some of this may be due to issues in the reprogramming of the differentiated cells. It might be possible for the process to be more successful with the use of somatic stem cells (commonly called adult stem cells) instead, since they remain undifferentiated (Stem Cell Basics). So far of the over eighteen (About Reproductive Cloning) animals cloned most have had health challenges and have died younger than a normal expected lifespan for their species. This leads many to question how effective cloning really is, and if cloning is ethical because of the effects it has on the life of the clone.
How would human reproductive cloning be applied? There are several ways that reproductive cloning can be used. As mentioned earlier, it is already used in agriculture, and there is hope of using it in conservation efforts, but what about human applications? There have been scientists who have shown an interest in cloning both modern humans, and human ancestors. Some scientists have proposed cloning an Neanderthal to be able to better understand our genetic past (Swanson). Although there are many differing views on human cloning, it hasn't happened yet. Many believe that it will come to pass in the next few years, despite the controversy. Another possible application of reproductive cloning is to allow people who can't otherwise have a child to have genetic offspring.
There are some great ideas that people have come up with for the application of reproductive cloning, but there are many ethical questions about whether or not human cloning should go forward. Several countries have banned human cloning preemptively, and although the United States is not one of them, it is expected that the first human clone will be produced outside of the US, and that the process will be privately funded. Although those who oppose cloning cite not only ethical issues, but the high risk of deformity to clones, proponents say that cloning is constantly improving and that there are similar risks associated with traditional sexual reproduction as well (Scientific and Medical).
Although I am not completely opposed to cloning, I am split on the reproductive cloning issue. I believe there are some benefits offered by cloning in an agricultural setting, and that the opportunity to try and protect endangered animals is something that should certainly be considered. I don't think that cloning humans or distant, extinct members of any species is advisable. Human cloning could result in health complications for the clone physically, but may also pose huge psychological difficulties for them as well. Clones look exactly like their donors, so that haunting feeling that you're looking just like your mother as you age, would be even more real for a clone.
Reproductive cloning is much broader of a topic than many people realize and includes not only animal cloning, but also plant cloning and natural cloning that transpires on a cellular level. There are both benefits and risks to cloning and many find that there are ethical issues that we face when considering cloning animals and humans in particular. It is important to understand reproductive cloning and all that is included in that field to be able to make informed decisions about whether or not you believe it is ethical and so that when it becomes a policy issue you can make the best choice possible.
And for some levity I've included this fun spoof song about cloning by Al Yankovic.
Sources:
Barchfield, Jenny. With Animals Under Threat, Brazilian Team Aims to Clone 8 Wild Species. 15 November 2012. The Washington Post. http://www.geneticsandsociety.org/article.php?id=6517. Accessed 3 March, 2013.
Swanson, Emily. Neanderthal ClonePoll Finds Most Americans Oppose Cloning Human Relative. 30, January 2013. Huffington Post. http://www.geneticsandsociety.org/article.php?id=6664 . Accessed 3 March, 2013.
About Reproductive Cloning. Center for Genetics and Society. http://www.geneticsandsociety.org/section.php?id=16 . Accessed 2 March 2013.
Asexual Reproduction. UCMP Berkeley. http://www.ucmp.berkeley.edu/glossary/gloss6/asexual.html. Accessed 2 March 2013.
Cloning Fact Sheet. Human Genome Project Information. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/cloning.shtml . Accessed 2 March 2012.
Reproductive Cloning Process Diagram. Genome.gov. http://www.genome.gov/pages/education/illustration_of_cloning.htm . Accessed 2 March 2013.
Scientific and Medical Aspects of Human Reproductive Cloning (p 76). The National Academies Press. http://www.nap.edu/openbook.php?record_id=10285&page=76. Accessed 3 March 2013.
Stem Cell Basics. National Institute of Health. http://stemcells.nih.gov/info/basics/pages/basics4.aspx. Accessed 3 March 2013.
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