Thursday, November 13, 2025

A New Digital Breakthrough for Early Dementia Detection

A New Digital Breakthrough for Early Dementia Detection

    Alzheimer's disease is a process in which the appearance of buildup proteins in the form of amyloid plaques and neurofibrillary tangles occurs in the brain. This causes the brain cells to die and shrink over time. This disease is a common cause of dementia [2]. This disease has been hard for doctors in primary care to detect in its early stages, so researchers have been developing artificial intelligence to detect it early with no extra cost or time.

    The researchers at Indiana University School of Medicine, the Regenstrief Institute, Eskenazi Health, the University of Miami, and Lamar University used a digital method to test older patients in which each patient automatically received a 10-question survey called the Quick Dementia Rating System through the patient portal. At the same time, an AI tool scanned patients' electronic health records in the background for early signs of dementia [1]. It scans for clues linked to dementia, such as memory concerns or vascular issues. This program runs silently in the background of the health system, and doctors only get alerted when something looks concerning.

    This system was tested in over 5,000 patients. The results show that the AI survey approach increased new dementia diagnoses by 31% within one year without additional work for doctors. The survey also helped raise up follow-up tests, such as brain scans and cognitive assessments, by 41%. This new digital survey is giving patients access to help much sooner than before [1]. 

    I think this approach is a step forward in dementia detection because of how much faster it detects, as well as making it easier for primary care doctors. Since the AI tool is free and works in the background, it helps clinics use it without extra time or resources. Seeing AI used this way shows how it can be used to improve patient care. I think this is a great use of AI and how this early detection can happen quickly and quietly, giving the patients a better chance to get help before the disease worsens. 

Resources

[1]S. Ktori, “New AI Tool Boosts Early Detection of Dementia in Primary Care,” GEN - Genetic Engineering and Biotechnology News, Nov. 10, 2025. https://www.genengnews.com/topics/artificial-intelligence/new-ai-tool-boosts-early-detection-of-dementia-in-primary-care/ (accessed Nov. 13, 2025).

[2]Mayo Clinic, “Alzheimer’s disease,” Mayo Clinic, Nov. 08, 2024. https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/symptoms-causes/syc-20350447

[3]M. A. Boustani et al., “Digital Detection of Dementia in Primary Care,” JAMA Network Open, vol. 8, no. 11, pp. e2542222–e2542222, Nov. 2025, doi: https://doi.org/10.1001/jamanetworkopen.2025.42222.

Wednesday, November 12, 2025

How a Few Small Mutations Allowed for Bipedalism in Humans


How a Few Small Mutations Allowed for Bipedalism in Humans

Benjamin Pruss
BIOL-2110-001 GENETICS
Professor Guy F. Barbato
November 11th, 2025

    


    Recently, two small genetic mutations were found that helped early man achieve bipedalism. All of our cousins, the great apes, are quadrupeds that can only walk on two legs for short periods of time. However, because of a set of small mutations, we can live our lives on two legs.

    These mutations, which affect the pelvis, or more specifically, the ilium, did two things: firstly, they rotated the pelvis 90 degrees. This changed the way the muscles were attached to the pelvis, becoming better suited to standing on two legs than walking around on four. Secondly, the amount of time it takes for the ilium to harden increased, allowing the pelvis to grow wider, which helped stabilize the body for an upright lifestyle.

    The discovery was made by Gayani Senevirathne and peers in 2025, when they were comparing human, chimp, and mouse pelvic tissue while studying hip disorders. Bipedalism was an important evolutionary change that helped shape humanity as a species. "One of the most significant things about this change is it shows how critical it was to establish the ability to stand on one foot at a time, which lets us walk on two feet," says anthropologist Carol Ward from the University of Missouri. One of the authors of the research article, Terence Capellini, also believes that the widening of the hips also led to a larger birth canal, which would have allowed for larger-brained babies.

Sources

Tuesday, November 11, 2025

From 13 Years to 3 Hours, Human Genome Sequencing is Now Faster Than Ever Before

Whole genome sequencing (WGS) has come a long way since the completion of the Human Genome Project in 2003. What once required billions of dolllars and over a decade of work can now be done in just a few hours. Today, this powerful technology is not just a scientific milestone, it's a saving grace for the most vulnerable patients in neonatal intensive care units (NICUs) and Children's Hospitals. 

Traditionally, doctors relied on whole exome sequencing (WES), which examines only the 1-2% of the genome that codes for proteins. Because most known disease causing mutations are found in this small region, WES has been a valuable diagnostic tool for years. However, as the cost of sequencing dropped, whole genome sequencing, which looks at all of a person's DNA, has become increasingly accessible, particularly for critically ill children whose conditions remain undiagnosed after many standard tests. As Yale Medicine notes, "For children whose diseases have not been diagnosed, WGS may offer the opportunity to discover a new genetic cause." 

Both WES and WGS use saliva or blood samples to decode a patient's DNA into a readable sequence of letters representing base pairs. Yet WGS provides a far more complete picture, uncovering genetic variations that uncovers genetic variations in both coding and noncoding regions of the genome. These can include structural changes, copy number variations, and mutations in regulatory areas; which revel the root causes of neurological disorders, metabolic diseases, immune deficiencies, and other rare conditions. In essence, WGS not only identifies what gene may be involved, but also how it might be malfunctioning at a deeper level. 

In October 2025, researchers at Boston Children's Hospital set a new Guinness World Record for the fastest genome sequencing ever performed, coming in at just 3 hours and 57 minutes. Using next generation sequencing technology developed by Roche, called Sequencing by Expansion (SBX), the team sequenced and analyzed the genomes of fifteen children, including several from the hospital's NICU. According to Mark Kokoris, head of SBX Technology at Roche Sequencing Solutions, the system was "engineered for speed, accuracy, and reliability." This breakthrough means families may receive life-altering answers in a single day, and would allow children to recieve more targeted, effective care. 

Reflecting on this achievement, it's remarkable to think how far genetics has come in such a short time. What once seemed like science fiction is now shaping the way we diagnose, understand, and treat disease. For families, like mine once was, waiting anxiously in hospital rooms, faster sequencing doesn't just mean technological progress, it means hope. 


Sources: 

Thompson, Dennis. “World Record Set for Fastest Genome Sequencing.” US News & World Report, HealthDay, 17 Oct. 2025, www.usnews.com/news/health-news/articles/2025-10-17/world-record-set-for-fastest-genome-sequencing.

“Whole Genome Sequencing > Fact Sheets > Yale Medicine.” Yale Medicine , www.yalemedicine.org/conditions/whole-genome-sequencing. Accessed 12 Nov. 2025.

The Nanotyrannus Dinosaur: A Tenth Less Than The Rest

 

An illustration by Anthony Hatchings, taken by the North Carolina Museum of Natural Sciences.¹

For years, the Tyrannosaurus Rex, or the "T-Rex," is one of the most legendary and known creatures of the Cretaceous Era. Millions of years ago, this gigantic dinosaur is what's formerly believed to be the king amongst other dinosaurs that came before it's extinction. Paleontologists and natural scientists come together throughout the United States to discuss the dinosaur in the room- what about the Nanotyrannus? The Nanotyrannus, literal meaning, "Small Tyrant," was also another genus that lived co-inside with the Tyrannosaurus Rex. Indeed, both are fierce predators, however, there are fine-line differences and similarities between these two carnivorous dominators.

The expedition site of Dr. David Dunkle's team in the Hell Creek Formation on finding the Nanotyrannus, taken from the Cleveland National History Museum.²

The history of the Nanotyrannus dates back to 1942, first discovered by  Dr. David Dunkle's team of paleontologists on the shy location of the Hell Creek Formation, Montana.² His team discovered a couple of dinosaurs. Two of them were previously unraveled by past paleontologists, but the most significant fossil discovery of them all was a uniquely shaped skull. This outlandishly shaped skull was what sparked the conversation, it was a theropod.²Time and time again did this skull undergo multiple false designations. It came to a halt between the fierce debate of whether it was meant to be a Nanotyrannus, or simply, a juvenile Tyrannosaurus Rex.

A skull of a Nanotyrannus Lancensis, taken by the Australian Museum.³

This debate went on amongst natural scientists and paleontologists. Some concluded and stopped at the thought of it being a juvenile Tyrannosaurus Rex. In spite of that, a famous paleontologist, Robert Bakker, upon further analyzation, designated this to be "Nanotyrannus Lancensis."⁴ This mention of the Nanotyrannus being a whole separate genus that associated itself with the Tyrannosaurus had blown away paleontologists. Anatomist James Napoli reinforces the Nanotyrannus Lancensis hypothesis being true, "..for Nanotyrannus to be a juvenile Tyrannosaurus Rex, it would have to defy verberate growth. That is not unlikely, it is approaching impossible."⁵ 

Statistics comparing and contrasting target sizes of the Nanotyrannus and Tyrannosaurus Rex, taken by the North Carolina Museum of Natural Sciences.¹  

Diagnostics from the North Carolina Museum of Natural Sciences show that the Nanotyrannus Lancensis is less than a tenth of the Tyrannosaurus Rex's weight and overall size.
¹   Despite this massive size difference, there are hypotheses and guesses that the Nanotyrannus was a "leaner, swifter, and more agile hunter," as said from Lindsay Zinno¹ , a close associate with James Napoli. This discovery culminates to one specific fossil. Paleontologists at the Burpee Museum of National History have named this fossil to be "Jane," the "sub-adult Tyrannosaurus Rex."

A picture taken from the Burpee Museum of National History, provided by the U.S. Department of Interior Bureau Land of Management.

Jane is one of the Nanotyrannus fossils that was previously mis-named as a "juvenile Tyrannosaurus Rex." Even so, paleontologists have irrefutably denied that this was not the case. In fact, Jane is a Nanotyrannus, most specifically, a Nanotyrannus Lethaeus. What paleontologists further analyzed about Jane is that a Nanotyrannus's bone development shares a similar growth rate to the Tyrannosaurus Rex, which could have caused that widespread confusion amongst paleontologists. That fact brings up the question, and as the Burpee Museum Staff writes it, "what would a fully grown, young, Tyrannosaurus Rex, look like?"
 Answers behind that question may not seem achievable at the very moment. Nevertheless, the efforts behind these discoveries through the paleontologists must not be downplayed, for a young Tyrannosaurus Rex may pop up at any moment.

References

¹ News. Nanotyrannus Confirmed: Dueling Dinosaurs Fossil Rewrites the Story of T. rex | Programs and Events Calendar. (n.d.). https://naturalsciences.org/calendar/news/nanotyrannus-confirmed/

² The discovery of Nanotyrannus. Cleveland Museum of Natural History. (n.d.).  https://www.cmnh.org/exhibits/g3-4-313 

³ Murray, A. M. (n.d.). Dinosaurs - nanotyrannus lancensis. The Australian Museum. https://australian.museum/learn/dinosaurs/fact-sheets/nanotyrannus-lancensis

⁴ Jane: Diary of a dinosaur. Burpee Museum of Natural History. (n.d.-a). https://burpee.org/jane-diary-of-a-dinosaur

⁵ What a great day for science!. Burpee Museum of Natural History. (n.d.). https://burpee.org/jane 


Genes, Reproduction, and the Price of Longevity



 Genes, Reproduction, and the Price of Longevity
Evgeniya Staleva
BIOL- 2100-001- Genetics
Professor Guy F. Barbato
November 11, 2025

    The article "Genes That Boost Fertility Also Shorten Our Life" presents new evidence in support of George Williams's 1957 theory of antagonistic pleiotropy and the idea that certain genes enhancing fertility in youth may have harmful effects later in life, contributing to aging. Using data from the UK Biobankwhich includes information from half a million people, researchers Jianzhi Zhang and Erping Long identified hundreds of genetic variants that increase fertility but are also associated with shorter lifespans. In addition, these fertility related variants were almost five times more likely to affect longevity compared to unrelated genes. One interesting discovery was that people born after 1965 tended to carry more of these fertility boosting variants than those born in 1940. This suggests that, even today, evolution continues to favor reproductive success. And although advances in medicine, health, and nutrition have extended human life expectancy, the underlying genetic trade- offs remain detectable.



    The study offers a fascinating look at how evolutionary biology intersects with modern genetics. It challenges the idea that aging is simply a defect in our biology, instead suggesting that aging results from evolutionary trade- offs. I find it both intriguing and somewhat ironic that the very genes that help us reproduce and ensure the survival of our species may also work against us later in life. It is a reminder that evolution doesn’t aim to maximize how long we live, but instead favors traits that improve our chances of reproducing.

Sources

https://www.nytimes.com/2023/12/08/science/fertility-genes-lifespan.html

https://pmc.ncbi.nlm.nih.gov/articles/PMC3220400/?utm_source=chatgpt.com

https://www.mrc-epid.cam.ac.uk/blog/2021/08/04/new-genes-longer-reproductive-lifespan/?utm_source=chatgpt.com

Monday, November 10, 2025

Transplanted Pig Kidney Removed After 271 Days, Breaking a Record!

    Tim Andrews recently had his pig kidney removed after almost 9 months of living with it. He and Wilma, the kidney named after the pig who provided it, are considered a big success in xenotransplantation. The kidney was provided by eGenesis, which used CRISPR to modify the genes, like allowing it to disable viruses that are harmful to humans. They had also changed genes for the organ to be more compatible with the human body in order to lessen the odds of organ rejection.

    Many others have gone through this procedure; some sadly passed shortly after receiving the organ, but others were able to live for months until the body rejected it and the organ had to be removed. Tim Andrews was able to set a record for living the longest with a genetically modified organ transplanted from a different species, which shows improvements as time goes on. He ended up having to remove the organ due to a decrease in function, but it helps bring hope for those who are patiently waiting for an organ.

    There is a big organ donation shortage, with an ever-growing list of people who need a transplant to live. The ability to genetically modify organs of other species would help tremendously in helping those who need the organ get it in time. Once they can increase the amount of time it takes for the body to reject the organ, I believe that this could be a great help for those who would need immediate surgery until they can find a human donor that matches. This would be able to give time for the patient to live for months or years until a human organ is found, which could take months that they now have.

Sunday, November 9, 2025

Ancient Viruses can be useful to modern day research

    Researchers at Penn state have discovered that some bacteria can carry ancient dormant viruses called cryptic prophases in their genomes. These dormant viral sequences can become a part of bacteria's defense system. They found that recombinase can modify bacterial DNA in response to viral threats only if a prophage is already embedded in the genome. This specific recombinase is known as PinQ. When a virus goes near the bacterial ell, PinQ triggers DNA inversion flipping a section of genetic code inside the chromosome. 

    In experiments with E. coli the proteins were overexpressed, and viruses could not land on the bacterial surface. After repeated exposure the virus evolved a new attachment mechanism and overcame the barrier. Researchers suggest that this kind of ancient viral defense could be helpful for antiviral strategies especially those showing antibiotics resistance.

    Benefits to this research helps understand how antivirus systems operate. This can lead to a better understanding of how to effectively cultivate bacteria used to ferment foods like cheese and yogurt. This could also help improve how bacterial infections are managed in health care settings. 










Sources:  Ancient viruses hidden inside bacteria could help defeat modern infections. (2025, November 25). ScienceDaily. https://www.sciencedaily.com/releases/2025/11/251102205009.htm

Putol, R. (2025, November 1). Ancient viruses inside bacteria may help fight infections. Earth.com. https://www.earth.com/news/ancient-viruses-inside-bacteria-may-help-fight-infections/

Saturday, November 8, 2025

Doug Whitney May Have the Key to Aiding Alzheimer's

    In this NYTimes article, Doug Whitney has been the focus of research for 14 years due to the fact he doesn’t have Alzheimer's Disease. This wouldn’t be anything special except for the fact that he was expected to show symptoms in his 50s, but now he is 76 with no signs. His family has the rarest mutation called Presenilin 2, which is shown to cause early-onset Alzheimer’s disease and has been seen in the family with memory problems starting to show between the ages of 44 and 53. After a while without seeing any issues, Mr. Whitney decided to go through with genetic testing and was confirmed to have the mutation, but no symptoms, which led to further research.

Alzheimer's is seen by the abnormal accumulation of two proteins in the brain: amyloid, followed by tau. Amyloid starts to clump together years before symptoms, and tau forms tangles after the accumulation of amyloid. It was found that Mr. Whitney’s brain was full of amyloids, but didn’t have nearly as many tau, which suggested that his brain is resistant to tau aggregation and spreading. Looking at his DNA, researchers have discovered that there are a couple of variations that his relatives didn’t have that could be helping with the prevention of Alzheimer’s. It was found that he has an excess of heat shock proteins that help keep proteins from folding incorrectly. This excess may be the reason why there aren’t as many misfolded proteins, especially tau, in his brain, since it can prevent them from spreading. There are many theories on why this has happened, but it is still being tested to find that piece of the puzzle.

Alzheimer’s disease is a disease that has no cure and affects many people and their families. This research could be a big breakthrough for those people and give hope for a cure or at least assistance for those who have it. I believe that this research is extremely important, since I know people whose family has a history of diseases that cause brain deterioration, and this could help ease their worries. Even if this doesn’t lead to a cure, it’ll help guide our understanding of these issues and get us one step closer.