Third Blog
Hey friends! We meet again. I hope that you are all doing alright with this COVID-19 epidemic. You probably heard this a million times but please WASH YOUR HANDS constantly. After all, your safety and health are the number one goal. Speaking with COVID-19, most places are closed to help in the reduction of the spreading of this virus. This is especially serious for places that target the vulnerable population to this virus. Here at CNIB, most of our customers are elderly. Thus, it is unsafe for them to be subjected to the virus as their immune system is not as strong as mine and yours. Because of that, the CNIB hub and the events that were planned are all cancelled :( Now, it would be a perfect time for me to tell you about the importance to what I have done so far and its relevance to my genetics course--do not take this as a farewell! I will not forget about you!
With that being said and as usual, I will break the topics that I want to cover using headings so you won’t get lost. Ok, so let’s begin:
What did I observe that’s related to theories, concepts or ideas associated with genetics?
So far, I have learnt about so many different ocular genetics diseases. The reason why I got to learn about them is that I got to meet people who have these diseases!
The disease that I would like to talk about today affected two of the people I met, it’s called Retinitis Pigmentosa (RP). Before I start talking about it, I would like to explain some basic important concepts that would help you understand. So, what makes a male and a female different? Genetically speaking, a male is identified if an X and a Y chromosome are observed whereas a female would have two X chromosomes. These chromosomes are called sex chromosomes since they determine the sex of the person. When couples try to conceive, the female gives an X chromosome because that’s all she got but the male could give either an X or Y. Depending on what the male gives, the sex of the child is determined. Similarly for non sex-chromosomes, a mom gives her version of the genes and the dad gives his version of the genes and the combination of those versions make the traits of the child. And now you are ready to learn about the disease.
PR is caused due to mutations (nonsense mutations which cause a shorter/premature protein by terminating the development of the protein) in the genes that cause premature proteins. These proteins are called photoreceptors in eye cells and they are important in detecting the light in the retina. Thus, individuals who lack those proteins suffer from peripheral vision loss. In other words, they cannot see what's around them, they see only objects straight ahead. This disease could be inherited by three inheritance patterns.
Autosomal dominant inheritance: this means that having one copy from either mom or dad of the affected gene is sufficient enough to show the trait (disorder--RP).
Autosomal recessive inheritance: this requires the two copies or versions of the gene to be affected (mom and dad are both affected) for the trait to show.
X-linked recessive inheritance: this means that if a boy (has XY chromosome) gets the affected X from mom then he will show the trait. But for girls (have XX chromosomes), they need two affected Xs to show the trait. Thus, if their dad gives a healthy X and mom gives an affacted X or vice versa, then they will not show the trait. They will simply be a carrier of this affected or “bad” version of the gene.
You can access this website if you want to learn more about RP: https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/retinitis-pigmentosa
What are the links that I can establish with the knowledge learnt in the course?
For my genetics course, there is a set of learning objectives that students are expected to fulfill by the end of the semester. At first, I was pretty worried that I have not learned anything from my CSL placement which basically involved planning events, support and play with kids, shop CNIB assistant and others. Yet, by doing these activities, I get to learn something new each time. Surprisingly enough, such activities make me curious and ask questions, from there I was able to learn a lot of things. So, as I was reading the learning objectives for my BIO2133 course, I have met a lot of them just by doing this placement, shocking right! Now, let's go through them one by one:
I have learned how genetic information is expressed so that it affects the organism’s structure and function. This is learnt by observing those who are afflicted with genetic disorders. Their disorders made me keen to google and learn more about their causes. This has definitely enhanced my understanding of the central dogma of molecular genetics--the process at which DNA gets transcribed to pre-mRNA, then splicing changes pre-mRNA to mRNA, and then mRNA gets translated to proteins. I have also enhanced my understanding of mutations and their phenotypic effects.
I have also learned about mechanisms at which human genomes get passed from generation to another. Studying those autosomal dominant, autosomal recessive and X-linked disorders made me learn about their inheritance patterns.
I was also able to develop and defend logical coherent arguments. This is done so by writing these reflections to you guys. I was able to see enormous improvements just by reading my first and last reflection. These reflections really do make me sit and think, not only that, be able to make connections between what I see, learn, and do to what the course wants me to achieve.
Also, because of my curiosity for learning more about the genetic disorders, I got to read more scientific papers about how these disorders occur, what types of mutations do they have, their inheritance patterns and others. This really helped ameliorate my comprehension of genetic articles.
Adding to that, I was able to demonstrate professional work habits and ethical conduct when working by myself at the CNIB shop or with others especially during events. I was able to become aware about important issues escalating among the visually impaired population like the decrease in employment rate. I also learnt a lot about how their vulnerability makes them more susceptible to social disadvantages like lying or cheating on them or simply by bullying them.
Another important learning objective highlighted by the professor is to be engaged in all learning opportunities offered by this course and to complete the work by the scheduled due dates. Choosing to do the CSL placement was definitely something that is new for me and a bit challenging as well. I really had to push myself out of my comfort zone and be able to try new opportunities and not always follow the same routine. In this case, I refused to do the lab to try this new opportunity out.
My friends, there is a lot more that I would love to talk to you about but I do not want to keep you here forever so lets move onto the next topic.
What skills or abilities associated with the course did I use and what was the result?
My professor for this course is really active. He is pushing his students to do greater things not just reading the book and going to class. He wants us to develop all sorts of skills that would help us in the future. For instance, we have so much time in class where we--students--do activities together. This was really helpful for me as I managed to make new friends and helped me understand concepts in a way that I could remember often and without difficulties. Not only that, working with other students gave me the ability to be able to understand that importance of study groups. This is done so by letting me discover different and effective ways in which other students use to study. Sometimes, other students highlight my misunderstanding of a concept that I completely thought that I mastered. All of these opportunities that this course provided really did enhance my interpersonal skills and my time-management skills. Those two skills were critical for my CSL placement as I often worked with kids and other volunteers. I have also managed to interact more effectively with the visually impaired even though I was always scared to interact with them as I was terrified of making mistakes. I feel that now, I am a much stronger person than I was in January.
Time management is another very important skill that I gained and used. It is really hard for a full-time student to find availability to volunteer at places. I had to make a very detailed schedule and agenda. Following that, I was able to finish a good number of hours so far but also keep up with my other school and extracurricular work. This skill is really important, and I am very happy that I am more organized now. It's really stress-relieving guys; you should try that as well!
Aaand, that’s the end for today friends. Hopefully, I will be active again after exams with a newer topic. So stay tuned, and I wish you the best of luck on your exams!