Rosalie's Biol 463 blog

Remember how I asked a question in class about are researchers allowed to run paternity tests on participants ?
Would researchers tell participants if the research found participants’ family history differs from differences than what the participants believe to be true?

This questions actually stem from a thought I had earlier in my academic career in which I thought how cool it would be to study my maternal family.
My maternal family consists 2 males, 4 consecutive females( my mom is the last of them), 2 younger males.
I wondered is it by chance that all my aunts+ my mom had hyperthyroidism. I believe at least one of my uncles had hyperthyroidism as well. Unfortunately one of my uncles died so the sample won’t exactly be complete. My maternal grandpa died of possibly old age at 95 in 2001/2002. My maternal grandma probably died in 1973 of some really aggressive brain tumor. My younger self thought it would be good idea to sample everyone and just test everyone because my grandparents are not live, we wouldn’t know if there are paternity “accidents” (not true). Around my 2nd year of university, I was told by my family doctor hyperthyroidism is not heritable( I have not looked into that). However, now that I’m more exposed to clinical research. I do not think I want to be the one to conduct any studies on my maternal family. I wouldn’t want to know if any of my cousins were not conceived by their father. I definitely won’t be able to not test the family tree, as Pam mentioned 2% of the people do not have the paternity they think they have. I counted the number of people in my maternal family( that I rememeber) and it was 28. 2% pf 28 is 0.56( It rounds up to 1). Let that sink in for 1 second…

You may think “wow! Rosalie’s family history is interesting”. I haven’t started to talk about my paternal family.
My dad has 12 siblings, 2 are half siblings. I think I won’t be interested in conducting any studies on my paternal family, while many interesting heritable traits are present among my aunts and uncles.

This has been an interesting thought journey though. It is quite amazing to remember what I thought back then and compare to what I think now.

Recently I read an article about epigenetic changes in the brain of child abuse victims who committed suicide.

In the brains of victims, the increase in cytosine methylation in the promoter for neuron-specific glucocorticoid receptor is associated in a decrease of glucocorticoid receptor expression.

This study demonstrates how environment stress experienced in development can cause epigenetic changes inducing negative consequences.

While I have learnt how environment can induce epigenetic changes in model organisms, this is the first time I read a study on how epigenetic changes can be associated with a horrific effect in humans. This study has reaffirmed my change of perspective on the importance of epigenetics. Initially I thought epigenetic modification is much like an ornament(before the course), as the course progressed I have come to realize epigenetics is understudied but it is critical to many processes such as X inactivation.

After taking this course, learning everything that could go wrong, and how my actions could affect my offspring, I doubt I would ever have children…

Owens, M. (2009). Faculty of 1000 evaluation for Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse. F1000 – Post-publication peer review of the biomedical literature. doi:10.3410/f.1158380.618532

I thought it would be interesting to add in some opinion pieces.
I found an old opinion piece on whether we should CRISPR (genetically edit) our germ cells
2 years ago, here’s what I wrote :

“CRISPR/Cas9 may inevitably be the cure to many disease including malaria, HIV and cystic fibrosis. Although its ability to target eukaryotic, viral and genetic disease has made gene editing an intensively-studied cure for many diseases, it has also raised many ethical concerns in human application

Given the limitation in knowledge regarding the consequences in human application that can be provided for informed consent, CRISPR/Cas9 treatment should be used only on non-germline cells (somatic cells) as the last resort in extending an individual’s lifespan at this time. The consenter must also understand the risks and uncertainty involved in using CRISPR/Cas9, such as inducing other diseases from off-target activity. While participation by children in clinical trials should be consented by parents, modification to embryos should only be used in cases where the embryos wouldn’t survive the pregnancy otherwise. As affected individuals must consent to irreversible genetic changes, it violates the rights of unborn individuals if irreversible gene editing was performed unnecessarily. Moreover, this costly technology can only be available to a selected few as of now, and the fine print of use has yet to be defined to avoid “eugenic” gene modifications procedures for having “designer babies.”

This is what I think today.

I still think germ cell genetically editing should not be allowed for the same reasons. However, I think there are other potential ways to cure or provide relief for a genetic defect other than genetic modification. If it is caused by a dominant mutation, would it be possible to devise a method to inactive the defect allele epigenetically? For instance, we could use a similar guiding technique as CRISPR/ Cas9. We could use a guide RNA to the target sequence to lead a methyltransferace to the active dominant autosomal defective allele.