Fatal Familial Insomnia

 

    Fatal Familial Insomnia (FFI) is an exceptionally rare and invariably fatal genetic disorder caused by an autosomal dominant mutation in the PRNP gene. This mutation leads to the production of an abnormal prion protein that causes severe neurodegeneration, primarily in the thalamus, the brain region that regulates sleep. The disease is characterized by a relentless progression of symptoms, beginning with intractable insomnia, vivid dreams, and autonomic dysfunction (like high blood pressure and sweating), and advancing to cognitive deficits, motor problems like ataxia and myoclonus, and eventually coma and death. Diagnosis is primarily clinical, supported by genetic testing for the specific mutation, with an average disease duration of only 18 months. There is currently no cure; treatment focuses entirely on symptomatic relief and palliative care, as traditional sedatives are ineffective and no therapy has yet been found to halt the disease's progression.

    The article on Fatal Familial Insomnia is a stark and somber reminder of the power of genetic diseases. The mechanism is particularly harrowing that a single gene defect can systematically dismantle the brain's ability to sleep, turning a basic biological necessity into a direct path to death. It's fascinating yet terrifying how the pathology is so localized initially, targeting the thalamus to produce its signature symptom, before spreading to cause widespread neurological decline. The complete ineffectiveness of standard sedatives underscores that this isn't ordinary insomnia but a fundamental failure of the brain's circuitry. This condition highlights a critical frontier in medicine, where our understanding of neurodegenerative pathways is growing, but our ability to intervene remains heartbreakingly limited. The ongoing research into treatments like doxycycline and immunotherapy offers a bit of hope, but for now, FFI stands as a powerful example of a disease where compassionate, interprofessional palliative care is the only option, emphasizing the importance of supporting both the patient and their family through an unimaginably difficult journey.

References 

1. Khan, Zalan, and Pradeep C Bollu. “Fatal Familial Insomnia.” Nih.gov, StatPearls Publishing, 3 June 2019, www.ncbi.nlm.nih.gov/books/NBK482208/.

2.  Cleveland Clinic. “Fatal Familial Insomnia: Symptoms, Causes & Outlook.” Cleveland Clinic, 28 Apr. 2023, my.clevelandclinic.org/health/diseases/25001-fatal-familial-insomnia.

Genetic Insights into Why Depression Affects Women More Than Men

       In a recent study done by Dr. Jodi Thomas at the School of Biomedical Sciences at The University of Queensland, it has been found that major depressive disorder (MDD) impacts almost twice as many women as it does men. Researchers findings in the study with over 200,000 men and women with MDD start to unpack the underlying causes of MDD in both sexes. They categorized genetic effects into three separate groups: shared effects present in both sexes, sex-dependent effects that differ in magnitude or direction, and sex-specific effects present in only one sex. Their analysis revealed that women carry about 13,200 genetic variants linked to MDD while men have only 7,100, suggesting that women might bear a higher genetic burden (including 6,100 variants potentially unique to females). Additionally, three genomic regions were identified as major only in women, supporting the presence of sex-specific genetic influences.

The study also focused on genetic correlations between MDD and metabolic traits like body mass index (BMI) and metabolic syndrome. These correlations were stronger in women, consistent with clinical observations that women with MDD more often experience metabolic symptoms. With this, researchers recorded limitations in statistical power, meaning that not all causal genetic regions could be definitively identified. In addition, genetic correlations between men and women with MDD were slightly lower than expected, underscoring possible differences in cohort characteristics. This suggests that twin studies and GWASs may capture distinct aspects of genetic risk.

    Ultimately, the study highlighted a noteworthy variant on the X chromosome in men, mapping to the IL1RAPL1 gene, which is involved in memory and has been associated with several other traits but not previously with MDD. While the role of this gene in male depression is still unclear, it provides a promising opportunity for further research. Overall, the study harps on the importance of sex-stratified analyses to comprehend the biological function of MDD and points to the need for more data collection and further investigation into molecular mechanisms that mediate sex-dependent and sex-specific genetic impacts.

Sources:

https://www.nature.com/articles/d41586-025-03374-0

https://www.nature.com/articles/s41467-025-63236-1

https://www.mayoclinic.org/diseases-conditions/depression/symptoms-causes/syc-20356007

People Who Don’t Lose Weight on Wegovy May Have Genetic Differences

 This article focuses on the new drugs that are in the market for weight loss such as Wegovy and Zepbound. The main concern is that 1 out of 4 users have mentioned that they have lost little to no weight with the medication although they’ve been using it properly. Through deep research, there are many biological differences that hinder the results of these medications. Obesity is very difficult and complex. Factors such as genetics, hormones and environmental factors can determine the performance of the drugs. 

There is a gene that’s called neurobeachin, it’s known to regulate the way that Kinase A works with the hypothalamus. “Because GLP-1 is known to activate PKA in other cells, genetic variations of neurobeachin may “ultimately impact how well the medication works for weight loss,’ Rotroff explains” (Youmshajekian, 2025). Sometimes people with this variation are 50% more likely to not lose weight with the drug. Scientists are still trying to figure out the best way to predict who will benefit from certain weight loss drugs.  

Youmshajekian, L. (2025, October 27). The new weight-loss drugs don’t work for everyone. genetics may explain why. Scientific American. https://www.scientificamerican.com/article/why-ozempic-and-wegovy-dont-cause-weight-loss-for-everyone/ 

German, J., Cordioli, M., Tozzo, V., Urbut, S., Arumäe, K., Smit, R. A. J., Lee, J., Li, J. H., Janucik, A., Ding, Y., Akinkuolie, A., Heyne, H. O., Eoli, A., Saad, C., Al-Sarraj, Y., Abdel-latif, R., Mohammed, S., Hail, M. A., Barry, A., … Ganna, A. (2025, April 18). Association between plausible genetic factors and weight loss from GLP1-ra and Bariatric Surgery. Nature News. https://www.nature.com/articles/s41591-025-03645-3 

New gene-editing tech holds promise for treating complex genetic diseases

There are researchers that are currently working at the University of Texas and are trying to find more effective methods to treat genetic disorders. They are using bacterial elements called retrons, with a new system in place that can repair multiple mutations at once instead of the traditional one. This is incredibly helpful, especially for diseases such as cystic fibrosis which have many of the same mutations within one gene. The retron based method is known to work effectively, while adjusting cells by 30%. By adjusting the large defective sections of DNA with healthier ones, this could lead to more inclusive and cheaper gene therapies. A graduate student from UT said “My hope, and what drives me, is to develop a gene-editing technology that’s much more inclusive of people who might have more unique disease-causing mutations, and that using retrons will be able to expand that impact onto a much broader patient population” (New gene-editing tech holds promise for treating complex genetic diseases, 2025).

The new method is giving researchers hope since it can replace a large quantity of the defective DNA in a healthy sequence. This can also fix any type of combination of mutations in the DNA strand without having to “be specific to any one person’s genetics”. This discovery is a huge step towards better genetic treatment options. This offers help for individuals with really rare mutations who are usually left with little to no effective options. 

 

Gene therapy for cystic fibrosis. Cystic Fibrosis Foundation. (n.d.). https://www.cff.org/research-clinical-trials/gene-therapy-cystic-fibrosis 

UTAustin. (n.d.). New gene-editing Tech holds promise for treating complex genetic diseases. EurekAlert! https://www.eurekalert.org/news-releases/1102990

The Gene That Made Mice Squeak Strangely

The Gene That Made Mice Squeak Strangely

Scientists have always wondered how language developed and came to be. A study conducted in February 2025 revealed that approximately 250,000 to 500,000 years ago, a gene called NOVA1 underwent an evolutionary change in the population of that time. NOVA1 is an RNA-binding protein found in the central nervous system that is crucial for function and brain development. Erich Jarvis, who is a neuroscientist and also a co-author in the study, stated that the NOVA1 gene by itself did not cause the language change, but it is also due to the mutation of numerous genes. NOVA1 first caught the eye of scientists in 2012, when it was first mentioned on a special list of genes that made proteins that were the same in most mammals but were made differently in humans. 

The biological effects of 1197v in NOVA1 were investigated by examining NOVA1, which is found in humans in mice. When they did that, the mice started to make complex noises. 

They did this to spot molecular changes in the regions of the brain, specifically regions that are related to vocal behavior and that can recognize changes in vocal patterns in baby mice and adult mice. These results found that when humans were evolving, the 1197v substitution in the NOVA1 gene protein could have played a role in the growth of neural systems that are involved in vocal communication.  

This is the mouse’s brain, and the green area is making the NOVA1 gene protein

References: 

1. https://www.nytimes.com/2025/02/18/science/language-genes.html

2. https://www.nature.com/articles/s41467-025-56579-2

World Skepticism About Genetically Modified Foods

    A Pew Research Center survey of 20 global publics revealed widespread public skepticism about the safety of genetically modified (GM) foods, a stark contrast to the scientific consensus on the issue. A global median of 48% of respondents believe GM foods are unsafe to eat, compared to only 13% who consider them safe, with significant concern in countries like Russia, Italy, and India. The article highlights a notable demographic divide: women are consistently more skeptical of GM food safety than men, and individuals with higher education, particularly in science, are more likely to view them as safe. This public apprehension persists despite expert reports from bodies like the U.S. National Academies of Science that affirm the safety of GM foods, and it influences starkly different regulatory approaches between regions, with many European nations banning GM crops while countries like the U.S. and Brazil are major producers.

    This article highlights a critical and persistent challenge in modern science: the significant gap between expert consensus and public perception. It's fascinating and somewhat concerning that skepticism is so deeply entrenched globally, even in the face of pretty concrete scientific agreement. The demographic findings are interesting as well; the gender and education gaps suggest that feelings about GM foods are not just about the science itself, but are influenced by deeper social, cultural, and informational factors. The fact that more science education correlates with greater acceptance points to a failure in science communication rather than a failure of the science itself. This disconnect has real-world consequences, shaping disparate government policies that can hinder global collaboration on using biotechnology to address pressing issues like food security. The article serves as a powerful reminder that for technology to progress, winning public trust is just as important as winning the scientific debate.

References : 

1. Kennedy, Brian, and Cary Lynne Thigpen. “Many Publics around World Doubt Safety of Genetically Modified Foods.” Pew Research Center, 11 Nov. 2020, www.pewresearch.org/short-reads/2020/11/11/many-publics-around-world-doubt-safety-of-genetically-modified-foods/. 

2. Bawa, A. S., and K. R. Anilakumar. “Genetically Modified Foods: Safety, Risks and Public Concerns—a Review.” Journal of Food Science and Technology, vol. 50, no. 6, 2013, pp. 1035–46, https://doi.org/10.1007/s13197-012-0899-1.

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How genetics is helping crops adapt to climate change

How genetics is helping crops adapt to climate change

Kylee French

BIOL-2110-001 - GENETICS Professor Guy F. Barbato October 24, 2025

    While some plants naturally thrive in the hottest deserts, the crops we rely on for food are not built to withstand such extreme conditions. Photosynthesis, the process through which plants get energy, grinds to a halt between 104 to 113 degrees Fahrenheit, temperatures that are becoming more common in many of the world’s agricultural regions. If plants cannot undergo a process that they need, they will die. With global warming, our planet is heating up, and traditional farms and crop fields are increasingly facing challenges from these higher temperatures. Scientists are exploring solutions to protect our food supply, turning to genetic editing and modification to help crops adapt. By directly editing plant genomes or accelerating beneficial mutations, researchers aim to make crops more heat-tolerant. One promising approach involves transferring genes like rubisco activase from heat-adapted plants into more sensitive crops, giving them a better chance to survive in a warming world.

    To further explain, I read an article titled "Soaring Temperatures Threaten Crops, So Scientists Are Looking to Alter the Plants" by Rebecca Dzombak, which provides a lot of insight into this topic. The article explains, “In plants that grow in warm climates, rubisco activase seems to work better at helping rubisco function. Transferring that molecule from hot-climate plants to cool-climate plants can help cool-climate plants adapt to heat” (Dzombak 2025). This is one way scientists are working to help crops withstand rising temperatures. While this method is promising, it is also challenging because it involves directly altering plant genetics. Another approach involves modifying the plant’s temperature-sensing system. As the article states, “Instead of plants having discrete ‘thermometers,’ temperature sensing could be spread out in many plant systems and proteins, the researchers say. That could provide many targets for editing for heat tolerance” (Dzombak 2025). This method directly affects the plant’s genome by targeting multiple genes and proteins that control how plants respond to heat, giving scientists several ways to enhance heat tolerance.

    In conclusion, this research shows just how powerful genetics can be in solving real world problems. By directly editing plant genomes and exploring natural genetic diversity, scientists are giving crops the tools to survive in hotter climates. I think this study is truly amazing, because if we continue to make progress, it could not only protect our food supply but also improve crop yields. Genetics is no longer just a field of theory; it is becoming a practical tool to address some of the planet’s most urgent challenges.

References

Dzombak, R. (2025, July 12). Soaring Temperatures Threaten Crops, So Scientists Are Looking to Alter the Plants. New York Times. Retrieved October 24, 2025, from https://www.nytimes.com/2025/06/12/climate/plants-climate-change-photosynthesis.html?searchResultPosition=1

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

This article speaks on the UNC13A gene that is responsible for information transfer between neurons. It usually contains neurodevelopmental syndrome which is known to cause seizures, tremors and even early (childhood) death. There are three mechanisms that are known to be examined and they consist of “reduction in synaptic strength caused by reduced UNC13A protein expression, increased neurotransmission caused by UNC13A gain-of-function and impaired regulation of neurotransmission by second messenger signalling” (Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function, 2025).  

There are various different types of UNC13A variants that present neurodevelopmental deficiencies. There are three subdivisions of this, let’s start with part A. This is known to compromise variants, sometimes over 50%. This leads to reduced synaptic strength which results in early seizures and developmental delay. Part B are usually heterozygous variants, they increase neurotransmission. This also leads to movement disorders and seizures. Part C is more mild and known to be caused by a heterozygous variant as well. Usually in this case there is little development impairment, seizures and there seems to be a dominant inheritance pattern across generations.

Asadollahi, R., Ahmad, A., Boonsawat, P., Shahanoor Hinzen, J., Lohse, M., Bouazza-Arostegui, B., Sun, S., Utesch, T., Sommer, J. D., Ilic, D., Padmanarayana, M., Fischermanns, K., Ranjan, M., Boll, M., Ka, C., Piton, A., Mattioli, F., Isidor, B., Õunap, K., … Lipstein, N. (2025, October 22). Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function. Nature News. https://www.nature.com/articles/s41588-025-02361-5#Sec10

Account - genecards suite. (n.d.). https://www.genecards.org/cgi-bin/carddisp.pl?gene=UNC13A