Cohn, H. (2023, June 16). How to Have Twins with Different Fathers. Office for Science and Society. https://www.mcgill.ca/oss/article/medical-student-contributors-did-you-know/how-have-twins-different-fathers

Article Selected:

https://apnews.com/article/crispr-gene-editing-rare-disease-mutation-chop-penn-4ab95afadde97164ae6c2450d79acbf8  

Why Did Your Group Choose This Topic?

We chose this topic because it highlights the extraordinary potential of personalized gene editing in treating rare and previously incurable diseases. The story of KJ Muldoon, an infant treated with CRISPR-based base editing for CPS1 deficiency, is inspiring and deeply relevant to modern genomic medicine. It reflects both a scientific breakthrough and a human impact, bridging cutting-edge research with patient care.

What Did You Learn?

We learned that this was the world’s first use of a customized, in vivo CRISPR base-editing treatment for a rare metabolic condition in a child. The treatment was developed in just six months and delivered via three infusions. KJ showed improvements in protein tolerance, resilience to infections, and developmental milestones. This discovery paves the way for the application of similar techniques to hundreds of other rare genetic diseases.

Can You Apply the Findings to Practice? Why or Why Not?

This treatment has the potential to be applied in highly specialized clinical settings, such as pediatric genetic centers. However, broad application is currently limited by cost, time, ethical considerations, and the need for rapid, individualized therapy development. With ongoing advancement, we may see scaled platforms for treating groups of similar genetic disorders in the near future.

What Are You Looking Forward to Most in This Class?

We’re excited to learn more about how genomics is translated into clinical practice, especially tools like CRISPR and polygenic risk scoring. We're also eager to explore the ethical frameworks that guide the application of emerging genomic technologies. Understanding how to balance innovation with safety, accessibility, and fairness is essential in this rapidly evolving field.

Brief Introduction

Hi everyone! Nursing school has already traumatized me, but I am determined to persevere!

Wang, Y., Xu, Z., Zhang, Y. et al. Identification of candidate genes associated with bipolar disorder by whole-exome sequencing of a Chinese multi-affected pedigree. BMC Psychiatry 25, 612 (2025). https://doi.org/10.1186/s12888-025-07002-z

Why did your group choose this topic?

I find the world of genetics fascinating. Pretty much any breakthrough related to it is of interest to me. I have no specific interest in mental health issues; however, it is interesting to see that more and more of the mental health issues are linked to our genetic code.

What did you learn?

According to Wang et al. (2025), based on the genome sequencing performed on the members of one pedigree in which multiple family members are afflicted with the bipolar disorder, there is an indication that one or more genes might be impacted by structural abnormalities that may contribute to bipolar disorder.

Can you apply the findings to practice? Why/why not?

It is too early to say whether this may be applied in practice since this study is very recent. In addition, in concluding section, Wang et al. (2025) indicate that further validation is needed for the results. Furthermore, Wang et al. (2025) states that larger population study should be performed and longer portion of the gene should be examined in the future studies. Because the results are preliminary, there is no immediate application in clinical setting. That said, I believe that documenting affected family’s pedigree tracing the illness may be done now in anticipation of further studies results.

What are you looking forward to most in this class?

This class is the best combination of serious science and satisfaction of intellectual curiosity because we get to examine various aspects of different cases of genetic dominant traits and illnesses. While studying those cases, we get to understand the behind the scenes (genetic) component of a particular case as well as real human life implication of it. Once we understand the latter, we can be better nurses to those impacted by various genetic issues. I am looking forward to learning more about the cases and real people behind them.

Please feel free to share a brief intro so we can get to know you!

Nursing school has been a roller coaster of a ride for me. The highs and lows are what keeps me going with the hope of finishing the ride on the high tide!!!

I chose this topic because of its relevance to neurological and psychiatric conditions. After further reading, I found that Gene delivery methods that can cross the blood-brain barrier (BBB) offer potential for treating disorders such as Parkinson’s, Gaucher disease, Huntington’s, and various mental health disorders.

What did you learn?

The researchers screened a library of viral capsids and selected one that binds TfR1, a protein highly expressed at the BBB, enabling transport across the barrier. There was preclinical success, as both human-cell BBB models and humanized mice demonstrated that the engineered AAV (BI‑hTFR1) reached the brain and spinal cord at 6–12 times higher levels than existing vectors, targeting astrocytes and neurons. When delivering the GBA1 gene (linked to Gaucher and Parkinson’s diseases), the new vector achieved approximately 30 times more copies in the brain than current AAV therapies, showing efficient gene delivery (Huang et al., 2024).

Can you apply the findings to practice? Why/why not?

Not yet. This therapy is still in the laboratory testing stage and has not yet progressed to human trials. Researchers are also unsure of the immune reactions that could occur in humans (which nurses would likely be responsible for assessing). Also, the cost and accessibility of these therapies raise concerns regarding equity in distribution. Nonetheless, this breakthrough is still one step closer to developing a method for delivering genetic material into the brain to reach cellular targets. 

What are you looking forward to most in this class?

I am looking forward to so much. Genetics and genomics have long been fascinating subjects to study. Familial traits and inheritance, epigenetics, and population genetics are all topics that have always interested me. I am excited to learn more about genes and mental health, as well as gene editing.

References
Huang, Q., Chan, K. Y., Lou, S., Keyes, C., Wu, J., Botticello-Romero, N. R., Zheng, Q., Johnston, J., Mills, A., Brauer, P. P., Clouse, G., Pacouret, S., Harvey, J. W., Beddow, T., Hurley, J. K., Tobey, I. G., Powell, M., Chen, A. T., Barry, A. J., Eid, F.-E., Chan, Y. A., & Deverman, B. E. (2024). An AAV capsid reprogrammed to bind human transferrin receptor mediates brain-wide gene delivery. Science, 384(6701), 1220–1227. https://www.doi.org/10.1126/science.adm8386

New gene delivery method paves the way for advanced brain therapies. (2024, August 15). National Institute of Mental Health (NIMH). https://www.nimh.nih.gov/news/science-updates/2024/new-gene-delivery-method-paves-the-way-for-advanced-brain-therapies

^{Devlin, H. (2025, June 25). Scientists create fertile mice with two fathers for first time. The Times. https://www.thetimes.co.uk/article/scientists-create-fertile-mice-with-two-fathers-for-first-time-6qcg6w9xk}

Why did your group choose this topic?

I chose this topic because it pushes the boundaries of what we thought was biologically possible. The idea that two male animals could create offspring without any female genetic material challenges our fundamental understanding of reproduction, inheritance, and genetics. It immediately grabbed my attention because it connects science with larger questions about identity, family, and the future of medicine.

This topic also relates directly to what we’re learning in class like DNA structure, epigenetics, and patterns of inheritance but takes those principles into real world application. I was curious to understand how scientists could override natural genetic imprinting and what that means for future possibilities in reproductive technology.

What did you learn?

I learned that scientists can now use epigenetic editing to create offspring from two male parents, which challenges traditional ideas about inheritance and reproduction. This involves altering genomic imprinting and how genes are turned on or off based on which parent they come from. It showed me that genetics isn’t just about DNA sequences, but also about how genes are regulated. I also realized how fast this field is advancing and how important it is to consider the ethical side of these breakthroughs.

Can you apply the findings to practice? Why/why not?

Right now, we can’t apply these findings directly to human practice because the technique is still experimental and was only successful in mice with a very low success rate. It also opens the door to new possibilities in reproductive science, but more research is needed before it can be safely or ethically used in humans.

What are you looking forward to most in this class?

I’m most looking forward to gaining a deeper understanding of how DNA is structured, replicated, and passed down through generations. The topics like chromosome structure, inheritance patterns, and polygenic traits are the foundation of everything in genomics, so I’m excited to really master them.

Please feel free to share a brief intro so we can get to know you!

Hi everyone! My name is Joyce, and I’m excited to be part of this class. I’m currently exploring a few different paths in nursing such as psychiatric nursing, ER nursing, and mother-baby care. I’m passionate about both the emotional and physical aspects of patient care, and I love the idea of working in settings where I can make a real impact during critical or meaningful moments in people’s lives. I’m looking forward to learning more about genetics and how it applies across different fields of nursing.

I choose this topic because the relationship between gut microbiome and aging is important in medicine and for public health. As people live longer it is more and more important to understand how we can extend the lifespan while making sure that extending it means staying healthy. The information about the microbiome offers a promising, non-invasive way to intervene with the aging process.

What did I learn?

I learned that aging is closely linked to microbial shifts which affects immunity, inflammation and cognition. Probiotics, diets and fecal microbiota transplantation can potentially reverse or delay these age related changes (Kadyan et al, 2025). Microbial metabolites play a direct role in cellular aging and this helps to do targeted therapies.

Can I apply the findings to practice?

I think that to some extent the findings could be put into practice. For example, dietary interventions like encouraging and teaching about probiotic and prebiotic uses. Using FMT or engineered microbiota needs more clinical trials to be done and FDA approval before being implemented everywhere. Also, each person is different so being able to figure out what affects each person’s microbiomes would be difficult right now.

What am I looking forward to in this class?

I am looking forward to understanding how genomics is integrated into the nursing process. I want to learn how to interpret genetic information in a way to helps with patient care. I want to be more confident in genomics when this class ends.

Citation

Kadyan, S., Park, G., Singh, T.P. et al. Microbiome-based therapeutics towards healthier aging and longevity. Genome Med 17, 75 (2025). https://doi.org/10.1186/s13073-025-01493-x

Why We Chose This Topic

Our group is passionate about the intersection of genomics, medicine, and patient outcomes. This study dramatically demonstrates how genomics can reveal unexpected side effects of standard cancer therapies—highlighting the relevance of genetics not just for disease detection, but also for treatment safety.

What We Learned

• Chemotherapy isn’t homogeneously harmful: some drugs like cisplatin and carboplatin induce high mutation rates in healthy cells, mimicking decades of genetic aging, while others like oxaliplatin don’t.

• Inter-patient variability: genetic background may shape how patients respond to the drugs.

• Precision medicine implications: genomic profiling could guide safer drug choices based on the mutational risk.

Application to Practice

Yes, it’s applicable especially in clinical oncology and pharmacogenomics:

1. Drug selection: Oncologists might one day choose between chemotherapy options not only by cancer efficacy, but also by minimizing genomic harm to patients.

2. Genomic monitoring: Regular blood-based genomic scans during treatment could detect early mutational damage, informing interventions.

3. Collaborative care: Close coordination between oncologists, geneticists, and pharmacologists is vital to translate these insights into patient care protocols.

Looking Forward to in This Class

• Learning how to integrate genomic data into real-world clinical decisions like considering genetic toxicity as a side-effect.

• Developing skills in ethical analysis: balancing treatment benefits with genomic risks and communicating them effectively to patients.

• Exploring bioinformatics tools: to process genomic mutation signatures and track patient-specific genomic changes 

About Brooke-Ashley Thompson

Hi everyone! My name is Brooke Ashley , and I’m excited to be here. I’m currently a senior BSN student with a strong interest in maternal health. I also work in pharmaceutical sales, where I’ve gained experience in healthcare communication and provider engagement. I’m passionate about improving patient outcomes and always eager to learn from others. I like to read books, hike, and cook, looking forward to connecting with you all!

About Erika Bumbrey

Hi everyone! My name is Erika Bumbrey, and I’m a senior. I currently work as an ABA specialist for autistic children, which has given me a strong love for behavioral health. At the same time, I have a deep interest in Labor & Delivery. I’m also a certified phlebotomist and have experience working in dialysis so it’s safe to say that healthcare is truly my passion, even if my interests span across several areas. I’m excited to see where I ultimately land in the field!

Outside of work and school, I love being in nature, reading a good book, and cuddling with my clingy dog. Looking forward to a great class together!

Mitchell, E., Pham, M. H., Clay, A., Sanghvi, R., Williams, N., Pietsch, S., Hsu, J. I., Jung, H., Vedi, A., Moody, S., Wang, J., Leonganmornlert, D., Spencer Chapman, M., Dunstone, E., Santarsieri, A., Cagan, A., Machado, H. E., Baxter, E. J., Follows, G., … Stratton, M. R. (2025, July 1). The long-term effects of chemotherapy on normal blood cells. Nature News. https://www.nature.com/articles/s41588-025-02234-x