Ghost in Your Genes

Posted bykaelinkockosFebruary 14, 2023Posted inPostsTags:Environment, GeneticsEdit Ghost in Your Genes

Have you ever thought about how one’s lifestyle could affect the way one’s genes work? Are the changes in how DNA operates in one’s body reversible or permanent? How often does a healthy or unhealthy lifestyle affect one’s genetic makeup? The documentary, Ghost in Your Genes, goes into the fascinating topic of Epigenetics. Epigenetics is the study of how one’s environment and behaviors can change the way in which genes function. The study refers to outside modifications to DNA that turn genes “on” or “off”. Due to the fact that Epigenetics does not change DNA sequences, the adjustment is reversible but will change how one’s body reads a DNA sequence. Let’s dive deeper into the captivating idea of Epigenetics!

“Ghost in Your Genes” Documentary

One thing that I learned was what a transgenerational period was and the effect on future generations. A transgenerational period is the heritable transmission of epigenetic information between generations, during a specific point in time. The transgenerational period between males and females is different. Females are more susceptible when still in the mother’s womb, which is before birth. Males are susceptible during the last years of childhood. The specific form of inheritance is considered to be non-Mendelian genetics. Epigenetics opposes the idea that inheritance only occurs through a DNA code from parent to offspring. A parent’s or grandparent’s experiences can be passed down to future generations, in the form of epigenetic tags. For example, the documentary explained that a Swedish Village discovered that environmental changes, such as famine or stress, can affect future generations.

There were so many interesting topics discussed in “Ghost in Your Genes”. One topic that was very engaging was that younger identical twins have greater epigenetic similarities, compared to older identical twins. A study was done on 40 pairs of twins. The results showed that younger twins had mostly the same functioning genes, while the older twins had fewer of the same functioning genes. Identical older twins had different lifestyles and spent less of their lives together, compared to young sets of twins. There was a large role of environmental factors when discovering a common genotype changed into a different phenotype. 

Epigenetic Similarities in Identical Twins

Depending on Genetics, inheritance, and lifestyle, certain genes are expressed and others are not. Do humans have control over which genes are expressed? Epigenetics has the potential to alter a human being’s life by altering the expressions of beneficial or harmful genes. Can Epigenetics be used as a treatment for diseases for everyone? Epigenetics can possibly help develop medicines and other treatments to can target symptoms.

The information can connect to what we’ve learned on the topic of disorders. Autism spectrum disorder (ASD) is a developmental disability caused by changes in the brain, such as a small size of the Hippocampus. Those with Autism have problems with social interaction. A gene for Autism has not been found yet, but Autism may have a connection with Epigenetics. Autism often results from a mixture of genetic susceptibility and environmental triggers. For example, researchers have found that early-life exposure to air pollution may be a risk factor for autism.

Parts of the Human Brain

The documentary, Ghost in Your Genes, provided a great introduction to Epigenetics and the role of Nature vs Nurture in Genetics. See you next time!

Genetic Counseling - Brooke Dunleavy

 

Genetic Counseling – Brooke Dunleavy

Brooke Dunleavy is another NDB Alumni who came to talk to my AP Bio class about her job as a genetic counselor. Graduating NDB in 2011, Brooke then went to college and graduate school before starting her career as a genetic counselor. She currently works at Lucile Packard Children’s Hospital and works in pediatrics.

After Quinlyn’s presentation, I was very interested to learn more about genetic counseling and to hear more about certain cases. One thing that I appreciated about Brooke’s presentation is that she was able to give more insight into the career itself, being that she has been in the field longer than Quinlyn. I was very interested to hear about what her average work week consisted of. Brooke said that normally, she is in the clinic 3 days a week and other days she is either supervising students, teaching, or doing her own research. I was surprised when Brooke mentioned how much energy and time goes into each appointment because I had never thought of the prep a genetic counselor would have to do to be informed case to case.

One case Brooke shared with us was about two sisters from the congo. They were in their late teens/early 20s and had not gotten their periods. After medical and genetic testing, it was discovered that they had Androgen Insensitivity Syndrome. In short, they had the genetic makeup of a man but since their bodies couldn’t respond to androgen, they physically presented female. This was very interesting to me because I didn’t realize it was possible for somebody to have a condition like this and not know about it for so long. Brooke also touched briefly on seeing cystic fibrosis patients/families, which was cool to hear a bit about after my teams genetic symposium project.

More Info on Androgen Insensitivity Syndrome

I really enjoyed Brooke’s presentation and found that it really sparked my curiosity regarding genetic disorders. While genetic counseling is not for me, the career seems very fascinating and like a very fun (but also hard) job.

Hemophilia

What stops bleeding from a cut finger? Our blood contains a variety of proteins known as clotting factors that function to create a clot on the wound to halt bleeding. What transpires, though, if the clotting proteins are ineffective and your body continues to bleed? We’re going to go into the specifics and discover more about the genetic disease known as hemophilia.

Hemophilia A, also known as Classic Hemophilia, is characterized by a deficiency or reduction in the plasma non-enzymatic protein clotting Factor VIII, while Hemophilia B, also known as Christmas disease, is characterized by a deficiency in clotting Factor IX, a vitamin K-dependent glycoprotein that is crucial for the intrinsic pathway for coagulation.

Hemophilia is a sex-linked recessive condition. Meaning the genes that code for Hemophilia are found on the X chromosome. Since there are no clotting factor genes present on the Y chromosome, males are far more likely to develop hemophilia compared to women.

Mobility issues, unexpected bleeding, and chronic discomfort are typical symptoms of hemophilia since the blood does not clot easily in those who have it. These can easily influence the daily decisions people with Hemophilia make because they fear that small injuries could lead to big problems.

I am very proud of how my groups final video came out! We all put in so much time and effort into making a cohesive video that highlighted each of our studied topics. I am most proud of the word usage and conciseness of our video, it makes it much easier for the viewer to understand. Yet there are some things that could be improved, instead of immediately inserting our interview clips, there should have been an introduction of our interviewee. This would make the connection between the interviewee and hemophilia a lot easier to understand. Although with the short amount of time we received for this project, I am so proud of myself and my group for all of our combined effort!

During our group symposium, we were asked many interesting questions from our classmates! I feel that we did a great job answering these questions. Although for me personally, I find that I need to improve on my presenting skills. I struggle with presenting and when I was answering questions I tended to trip up on my words and have a shaky voice. Practicing presenting will continue to benefit me and the cohesiveness of my presentation.

I am very happy with my decision to choose and study the blood condition of hemophilia. I learned so much about its inheritance and the varying symptoms and future treatments! Furthermore, I learned a lot about my family history, especially the life of my grandfather and how he learned to live with this dangerous condition during a time of economic distress in France. I will continue to educate myself and others on this topic as I find it’s very important to have knowledge on the very many dangerous conditions in the world.

Quinlyn Highsmith

 This week, Notre Dame's AP Biology class got a visit from a graduate of the class of 2017 who is in a graduate program to become a genetic counselor. There were many points that stuck out to me and Quinlyn gave some very good advice.

First, she gave some overall advice for college. This included tips like making sure to communicate with your professors and taking classes that you actually have an interest in. She also highlighted the importance of doing internships throughout your college career. Internships are something that had always caught my attention and I think they could be really fun. I enjoyed that Quinlyn included this part because I am applying to and even hearing back from colleges right now and sometimes it can get overwhelming, so having this advice was very helpful. Quinlyn also made it a point to say to take a step back and enjoy the little moments. This is a lesson that I hold dear to my heart. I know time flies and I never want to take any opportunities or any time for granted. I'm glad she agrees.

Quinlyn is still in her graduate program, so she couldn't speak to us about what being a genetic counselor is like. She could only tell us about what she has done. I was still able to learn from what she told us. She said genetic counselors basically analyze DNA results and read them to patients, then they guide them to the next steps for whatever their goal is. One thing that surprised me was that she said there are genetic counselors for all stages in life, I didn't know this. I thought there were only genetic counseling for expecting couples. There are also genetic counselors for specific diseases like cancer and cerebral palsey. You can read more about this here.

I really enjoyed Quinlyn's presentation. She taught me about being a genetic counselor and also just being a college student. She was very grounded and down to Earth. her presentation didn't feel like a lecture, more like a conversation.

Works Cited

“Cancer genetic counseling - Making Sense of Your Genes - NCBI Bookshelf.” NCBI, https://www.ncbi.nlm.nih.gov/books/NBK115516/. Accessed 1 February 2023.

“Department of Human and Molecular Genetics - M.S. in Genetic Counseling.” Department of Human and Molecular Genetics, https://gen.vcu.edu/students/ms-in-genetic-counseling/. Accessed 1 February 2023.“Family History of Cancer | Huntsman Cancer Institute.” University of Utah Health, https://healthcare.utah.edu/huntsmancancerinstitute/screening-prevention/family-history.php. Accessed 1 February 2023.

Cracking Your Genetic Code! The New Era of Genomics

 Hi everyone, and welcome back to my blog!

These few weeks so far into the spring semester, my AP Biology class has been diving into the genetics unit. The study of genetics astounds me, especially the idea that millions of genes and developmental information are tucked into individual strands of DNA at a minuscule level that can't even be seen by the human eye!

As part of our learning about genetics, we watched the Nova documentary episode, Cracking Your Genetic Code.

This documentary was incredibly informative and educational; I learned a lot more about modern genome technology and both the upsides and downsides of undergoing personal genome testing.

The documentary started by introducing what a genome is and the impacts of mutations on one's genome. A genome is all the genetic material contained in one's cells. This information can be most accurately gathered through a blood sample, in which the DNA is separated from protein and fat in the blood and is then sequenced to reveal a complete genome.

The human gene is not perfect and mutations, gene "mistakes," often occur. Such mutations can be benign and have no severe impacts on an individual, such as changing the color of one's hair or the shape of their earlobe, but other mutations can be critical or even deadly, such as those that code for certain rare illnesses and disorders.

New technology surrounding genome sequencing allows individuals to trace illnesses or disorders back to genetics. Knowing one's genome can help one take measures, if possible, to prevent future illness or disorders and medicine can be personalized to the patient to provide more direct support. For example, if one takes a genome test and discovers a predisposition to breast cancer through the BRCA1 gene, they may choose to take preventative measures such as surgery to remove their breasts and avoid the risk of developing cancer one day.

Both the BRCA1 and BRCA2 genes are linked to cancer-causing mutations. Cracking Your Genetic Code focused on discussing the BRCA1 gene.
Image courtesy of Atlas BioMed

The documentary discussed genome sequencing through medical professionals as well as genome tech companies. The most exact genome sequencing is done through medical professionals who directly compare one's individual genome against a copy of the "normal human genome" to look for variances that could potentially cause harm. 23andMe or Knome are two genome sequencing companies that sequence a customer's genome based on a sample sent in by the customer, mainly samples of saliva. These companies do not provide results with the same level of confidence that a doctor can, but they can introduce one to the idea of more serious testing.

Genome testing is becoming popularized with babies, specifically testing immediately after birth. A "heel-prick" blood test takes a sample of a newborn's blood and is immediately run to test for disorders such as cystic fibrosis or Huntington's, which would not present immediately at birth but would be crucial for parents to know to take the necessary next steps.

While knowing one's genome can provide the necessary answers to symptoms one may be experiencing or can confirm whether one is a carrier for a certain genetic disorder, knowing one's genome may not always be beneficial. There are certain genes that, if inherited, are unavoidable and will catch up with an individual at one point in their life, and patients must ask themselves if they really want to know if they will inherit such disorders or illnesses such as Alzheimer's on the APOE4 gene or breast and ovarian cancer on the BRCA1 gene.

The APOE gene makes the protein apolipoprotein E and can appear in different forms depending on how the protein binds. The structure of APOE4 changes the function of the gene and protein and coincides with a great increase in the risk of Alzheimer's.
Image courtesy of Frontiers in Aging Neuroscience.

All this information was very impactful to learn and has given me the opportunity to think about testing my own genome when I am an adult, such as when I am planning on having kids to see if I carry any genes that I could pass on and what those risks might be.

While this documentary is a bit dated (almost 11 years old to the present day), the technology presented then has been growing and developing into the modern day. Genome testing has become much more popular, with genetic counseling growing as a career and personal genetic test kids available for purchase on Amazon or 23andMe. As the medical community's knowledge and understanding of genetics continues to develop every year, we can continue to use genome testing to support patients, develop new medicines and treatments for genetic illnesses, and learn more about these genetic disorders, including cancer. The documentary discussed how observing the cancer genome is so critical to learning how to prevent cancer, so using genome testing is incredibly important now and will continue to be important in the future as cancer research develops.

I would absolutely recommend this documentary to all audiences, especially those who are currently questioning if they should undergo genome testing for personal health reasons and are weighing the pros and cons, or for audiences who are interested in the genetic field and want to learn more about the research and study that goes into genome testing. The documentary is very informative and uses an abundance of resources to go in depth into a variety of genes and genetic disorders. The film also discusses the pros and the cons of new and developing genome technology; while such medical advances are incredible, they all have downsides that can negatively impact an individual as well as our society.

After watching, I've been inspired to keep up with new cancer research, specifically surrounding cancer genomes and using genome research to create preventative drugs. What new drugs or treatments for cancer have been produced since this documentary was published that used cancer genome research? I'm also curious to know more about advances in cystic fibrosis treatments, as my current genetic research project focuses on this genetic disorder. I will continue to dig deeper and keep myself updated with new advances in this specific area of genetic testing.

Here's a link to current stories in cancer genome research!

Thank you for reading my blog today! I hope you learned something from my post, and have been inspired to discover more about your own genome! 

Cracking your Genetic Code Documentary and Genetic Conditions

Team AP Bio watched a PBS documentary created in 2012 called Cracking Your Genetic Code which discusses the future of genetic technology and the pros and cons of genome mapping. I found this documentary to be interesting because of the large number of benefits and challenges that come with the development of genetic technology.

I learned that in recent years there has been huge progress in mapping entire human genomes. The first genome that was mapped took 13 years (1990-2003) and cost 3 billion dollars. Now, with improved technology, genome sequencing can be done in a lot less time. The point of genome sequencing is to be able to detect mutations that might cause a genetic disorder for someone in the future or for their offspring. This is so important because it gives us the opportunity to detect and potentially prevent genetic conditions before the disease spreads and grows. It also allows us to detect conditions during pregnancy to allow the parents to prepare.

While there are some amazing benefits of genome sequencing, there are also some serious downsides to learning this information. Would you want to know if you are most likely going to get cancer or Alzheimer's disease when you are older? Similarly, if your sibling was getting tested for a potentially deathly disease that runs in the family, would you want to know if you have it, and would that affect your view on life? There is also a privacy concern with getting your genome sequenced. Companies will have your entire genome, which is more effective than social security numbers or fingerprints. There is a chance that in the future your genome will be something that is added to social media pages and can also play a role in relationships and who you decide to marry.

Multiple members of my family have been impacted by pheochromocytoma, a rare cancer in the adrenal gland (learn more here). Although genetic sequencing was not available when they were sick, I could get tested to see if I am at risk for this when I am older which could be incredibly beneficial to how I live the rest of my life. I am fascinated by genetic testing and love the relief it can provide to families.

Something else I found super interesting from the documentary is that one small mutation, like a C base mutating to an A base, can cause life-threatening diseases. This reminded me of our presentation about CRISPR, a new tool that corrects mutations found in genes. CRISPR technology can be used to cure someone of a genetic condition, which is amazing.

I would definitely recommend this documentary because even if science is not something you are particularly passionate about, genetic sequencing and technology like CRISPR will have a huge impact on medicine in the very near future and it is super exciting to think about. The documentary is yet another thing I have been exposed to in AP Biology that has confirmed that biotech and medicine are what I want to do with my life.

CRISPR & Genome Editing-Rodolphe Barrangou

Have you ever wondered if humans could edit the very genes that make up our cells and give us our unique traits? Well, through the use of the technology, called CRISPR (which has just turned 10 years old!) genome editing is making waves in the science world. In AP Biology class on December 12th, we listened to an engaging presentation by Rodolphe Barrangou, a professor at North Carolina State University and current researcher working with the CRISPR laboratory.

The presentation taught me a lot about CRISPR’s various applications in the Research, Bio-tech, Agriculture, and the Therapeutics fields. I learned how we can edit and cut genomes at a precise location in order to change DNA for medical purposes. 

In the medical setting, CRISPR is being used to cure people of genetically related diseases. For a woman named Victoria Gray, CRISPR helped cure her of her sickle cell disease by correcting a typo in her DNA. Gene editing can then be applied to the organs, cells, and tissues in our bodies to rewrite DNA with the goal of curing people of Sickle Cell Anemia. One long-term goal is targeting Cancerous tissues and engineering cells to trick the immune system into targeting Cancer. Another goal of gene editing is to be used in Antivirals and targeting viruses such as HIV. Professor Barrangou described that researchers hope to increase the number of cells that are edited in a patient with one dosage in order to increase efficiency which will lead to more widespread use of CRISPR. One of the questions that I am wondering is whether a good intention to fix a disease-causing typo in one’s genome could potentially lead to more mutations or Cancer in the long run?

Professor Barrangou also mentioned an example of a type of Butterfly that was genetically edited which I found to be very interesting! By editing a gene that gives the Butterfly a yellow color, the winged butterfly was recolored. The fascinating thing is that the pattern of the butterfly stayed the same. The precision to which genes can be edited is incredible to me. I am wondering whether gene editing could potentially change the color of any living organism (such as the colors of bird feathers)?

CRISPR is also being applied in the Agricultural setting in order to increase the nutrients in vegetables or fruits such as tomatoes, corn, or potatoes. The many applications of CRISPR in Ag, include improving the yield of crops, developing pesticide-resistant plants, developing drought-resistant plants, and making food that has more texture, flavor, and nutrients. I also learned from the webinar about a cool book related to food science that details genetically modified grain and its implications, called Golden Rice.

Professor Barrangou also talked about some common misconceptions that the public tends to believe about gene editing as well as the ethics of CRISPR. One of the common misconceptions is that eating genetically modified fruit will cause humans to become genetically modified. The misconception about fruit is not true because if anything, humans would get more nutrition from healthier fruits. Professor Barrangou also touched on the ethics surrounding CRISPR such as whether scientists should have the ability to edit the germ-line. Editing changes to DNA that offspring would inherit is still an ongoing discussion that people are having but it’s interesting to see how there might be hesitation about one’s offspring not having a say on the gene changes that are going to potentially affect them. I think that the questions about ethics surrounding CRISPR translate to conversations surrounding human embryos and not being able to necessarily get “consent” from unborn babies. However, I agree with Professor Barrangou that if you have the technology to help save lives, it doesn’t make sense to not use it. Just like he mentioned, not using CRISPR is like having a fire extinguisher to put out a fire and not using the extinguisher!

Lastly, Professor Barrangou also highlighted the importance of everyone working together to do their part in terms of editing each other and the media about CRISPR. Overall, I really enjoyed listening to Professor Barrangou’s insightful information about CRISPR. I recently heard about a CRISPR case in which a young girl that originally had an aggressive form of cancer is currently in remission for Leukemia so it’s really exciting how CRISPR is continuously working on ways to save lives. Just like Professor Barrangou stated, CRISPR has only been around for 10 years (considered a very short amount of time) so the technology is only going to keep growing!

One of my last questions is whether we could edit/make an organism’s genome reflect beneficial traits that have worked well for other organisms in the evolutionary process such as having better night vision? In the meantime, I will definitely check out the CRISPR journal!

 

CRISPR Reflection - Exploring by the Seat of Your Pants

The presentation on CRISPR was given by Jesse Hildebrand and Rodolphe Barrangu. 

What is CRISPR?

CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) is a tool used for genetically modifying DNA and RNA by precisely cutting DNA. This creates a gap for the DNA to patch by-itself, and could be considered a mutation or as CRISPR classifies, gene editing.

Before attending the presentation, I thought that gene editing was only used in agriculture. In the grocery store, I often scan items on the shelves for the “Non-GMO” sticker, assuring me that the products I’m about to buy are not genetically modified. However, today I learned that genetically modified organisms can be edited for good purpose in order to add more nutritional value to once ordinary crops. CRISPR technology is used in many fields including: Therapeutics, research, and biotechnology along with agriculture. 

CRISPR in Medicine

In medicine, CRISPR technology has been used to treat patients with sickle cell anemia, a genetic disease that changes the blood cell shape and causes a loss of healthy cells due to the abnormal shape. Today I learned about the first patient to receive CRISPR technology as a form of medicine. Victoria Grey received the technology to target the sickle cell anemia in her genome, which was edited and then released back into her body to correct the genetic disease.

Ethics of CRISPR

An interesting point that one of my classmates brought up was the ethics of genetically modified organisms and if there are consequences to CRISPR. Dr. Barrangu talked about how there are ethical limitations to what genes should be edited. An example he used was germline cells, cells that pass down genetic information through generations, and explained that editing a human genome for someone who has not been born yet is unethical. 

CRISPR will be extremely revolutionary in the medical field for treating countless genetic diseases and has already made an impact on sickle cell anemia treatments however, there is a point when gene editing could become unethical. When I thought about CRISPR in the medical field, I was reminded of the fictional story, Never Let Me Go by Kazuo Ishiguro, in which human modification is taken too far, to the point of cloning people in order to harvest their organs. In the book, children are raised in an English boarding school from birth until they are young adults, however, they do not know or realize their purpose in life until they leave the school. The main character, Kathy, has an identity crisis for most of the story because she does not realize that she is a clone, and her sole purpose in life is to donate as many of her organs as possible. The book highlights the ethics of medicine and technology in the modern day, such as CRISPR, and questions how far is too far when editing the human genome. Human cloning is unethical and has not been attempted in this day and age, however, that is not to say that within the next century, Ishiguro’s fictional story is at risk of becoming a reality because of genome editing and copying. 

This is why ethical codes are so important within medicine, a field that is continuously making revolutionary research discoveries such as CRISPR. Technology to that advanced level must be kept in good hands to avoid morally and ethically wrong decisions in genome editing.

Curious question: If a person is using CRISPR to treat a genetic disease, is it possible for their body to reject an edited genome or respond negatively in some way?

Image Source:

Heidt, Amanda. “CRISPR Gene Editing Prompts Chaos in DNA of Human Embryos.” The Scientist, 26 June 2020, https://www.the-scientist.com/news-opinion/crispr-gene-editing-prompts-chaos-in-dna-of-human-embryos-67668. Accessed 12 December 2022.