Genetic Study of Asthma

    In a recent article published on May 2, 2025 by the Physician's Weekly, states that researchers found significant differences in genes potentially linked to adult-onset asthma and childhood-onset asthma with an overlap between the two. After combining experiment and computational approaches to reanalyze genome-wide association study (GWAS) for data on AOA and COA the researchers ended up discovering hundreds of genetic variants with a high likelihood of having a causal effect on both types of asthma. The researcher team applied a fine mapping of a statistical technique with asthma, in order to summarize statistics found from the UK Biobank. It was explained that the GWAS association provides sets of variants associated with the disease in order to perform the research. So when the variants overlap with chromatin regions in cell types that are relevant to asthma pathogenesis like lung epithelial cells can potentially cause casualties to the asthma phenotypes. The researcher were able to incorporate data on expression quantitative trait loci, which is a genetic variant associated with differences in the gene expression and chromatin interactions from blood and lung cell types to link the fine mapped variants to their target genes Therefore refining the list to the likelihood of casual genes. After doing so the fine mapped analysis revealed 21 credible sets of variants for AOA and 67 for COA with just a 16% of sets shared by the both. Once the researchers searched the loci for cis-regulatory elements linked to asthma they were able to nominate 62 candidate genes for AOA and 169 for COA which was more than 60% of which exhibited open chromatin in multiple cell lineages, that could include many genes that would've involved immune and inflammatory responses. They were able to confirm regulatory effect, and that six of these candidate elements were tested in brachial epithelial cells by using luciferase reporter assays. According to the study, four of them showed allele specific activity consistent with the asthma risk variant which would then narrow the function gap.

Links: 

https://www.physiciansweekly.com/adult-childhood-onset-asthma-are-different-diseases-genetic-study/ 

https://www.who.int/news-room/fact-sheets/detail/asthma

Protein That Stops Cell Division Could Serve as a Biomarker or Therapeutic Target for Liver Disease

 

 

      According to recent research published in The FASEB Journal, a protein that stops the cells from dividing in response to damage or stress could become a new biomarker or therapeutic target for metabolic dysfunction-associated steatotic liver disease (MASLD). This protein is called cyclin-dependent kinase inhibitor 1A (CDKN1A), it was upregulated in patient datasets and models in animals of the disease, and the expression level correlated with the severity of the disease in the study. 

    With current technologies, only liver biopsies or medical imaging methods such as ultrasounds are used to diagnose MALSD, and no medication has been approved to treat the disease yet. To find a diagnostic biomarker or drug target, the researchers used bioinformatics methods to analyze public patient datasets for differentially regulated genes in MASLD patients and compared them with controls. They found that CDKN1A was upregulated in all of the datasets obtained. The study states that: 

"The protein encoded by this gene responds to cell stress and damage by preventing cells from dividing, shifting them to a senescent or inactive state. Further analysis of five patient datasets, including the initial three, demonstrated that CDKN1A transcript levels increased with disease severity."

    The expression of CDKN1A positively correlated with two clinical assessments: the disease's activity score and the fibrosis stage. In the patients' liver tissue, immunofluorescence staining showed the protein's higher expression compared to tissues from the control group. 

    The results from the study are consistent with previous reports, which suggest an association between CDKN1A and MASLD. The researcher said: 

“Functionally, CDKN1A may contribute to MASLD progression by promoting hepatocyte senescence, exacerbating lipid toxicity, and fostering chronic inflammation and fibrosis,”

    These findings will guide the study to a more effective way of using biomarkers for disease diagnosis and therapeutic intervention. 

WORKS CITED

MBT Desk (2025). Protein That Stops Cell Division Could Serve as a Biomarker or Therapeutic Target for Liver Disease. MedBound Times. https://www.medboundtimes.com/biotechnology/cdkn1a-as-biomarker-therapeutic-target-in-masld?utm_source=website&utm_medium=related-stories

Deng, L., Deng, J., Luo, L., et al. (2025). Identification of CDKN1A as a potential key risk factor in MASLD progression. FASEB. https://doi.org/10.1096/fj.202402942R

How Jeju’s Haenyeo Women Defy Age and Cold Through Genetics and Grit

On South Korea’s Jeju Island, generations of women known as Haenyeo have made a living freediving for seafood, often into their 80s and even during pregnancy. A new study published in Cell Reports sheds light on their remarkable physical endurance and cold-water tolerance.

Researchers found that Jeju Islanders, including both divers and non-divers, carry unique gene variants not found in mainland South Koreans. These genes may help regulate blood pressure and improve cold resistance, crucial traits for diving in waters below 55°F (13°C). One variant, linked to reduced blood pressure during dives, could protect against hypertension-related risks. However, the extreme dive reflex, marked by slowed heart rates, appears to stem from rigorous training rather than genetics. The study highlights how both evolution and lifestyle shape human resilience, with potential insights into how our bodies cope with stressors like cold, low oxygen, and disease.

Sources:

https://www.livescience.com/health/genetics/legendary-women-of-the-sea-in-south-korea-freedive-well-into-their-80s-a-new-study-hints-at-how

https://www.cell.com/cell-reports/fulltext/S2211-1247(25)00348-1?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124725003481%3Fshowall%3Dtrue

NEW alternative way to CANCER

 A new cutting-edge treatment was introduced to patients at the Roswell Park Comprehensive Cancer Center in Buffalo, New York. A 70-year-old patient was diagnosed with an aggressive form of lymphoma. The lymphoma was killing his energy levels, his motor skills, and his appetite. This encouraged Roswell to treat his lymphoma using CAR T-cell therapy. This therapy uses an advanced approach to gene therapy to teach a patient's immune system to target and destroy their own cancer cells. Doctors use the patients' own blood to extract the T-cells and have lab technicians analyze them. The technicians then genetically engineer the extracted T-cells to seek out specific targets to attack the body's cancer, and then put them back into the body using IV. This new technology can bring a new perspective to the cancer research community and bring families closer together. 

CAR T-cell therapy can change how we think of cancer and how we treat cancer. At Roswell, the use of CAR T-cell therapy has been promising and shows positive results. In certain cases of leukemia, the remission rate from this therapy is as high as 90%. This can potentially create a cure that can affect the lives of millions of people. Doctors and researchers are currently working on advancing this therapy to treat other tumors as well. The more we know about this therapy and research more about cancer, the higher the chances will be for surviving cancer and other growing diseases.

https://www.usnews.com/news/health-news/articles/2025-04-21/cutting-edge-cancer-treatment-isnt-known-by-most-americans

https://www.lymphoma.org/understanding-lymphoma/treatment-planning-and-options/treatments/cartcell/

Mammal's Super Healing to Open Wounds

     In a study published on Wednesday April 30, 2025 the proceedings of the Royal Society B, Dr. Masumoto-Oda and her team compared the healing rates of humans, chimpanzees, monkeys, and mice. They found that humans took more than twice as long to heal a wound than any of the other mammals tested. The slow healing trait might have been a result of an evolutionary trade-off that humans. The study recruited 24 patients who were having skin tumors removed at the University of the Ryukyus Hospital, 5 chimpanzees were observed at the Kumamoto Sanctuary of the Kyoto University Wildlife Research Center. The Skye's monkeys were observed as primates by having them anesthetized and then researchers would surgically wound them and then monitor their healing. But do not be alarmed. Dr. Matsumoto-Oda said that "as a field researcher, I personally believe that invasive studies should be minimized as much as possible" and later discussed that the surgical wounds were no bigger than the average bite size wounds that would occur in the habitats between the species. The results consisted of humans healing wounds more slowly than other animals, and said that they regrew skin at about a quarter of a millimeter per day, on average. There was more consistency between the healing rates of the animal subjects including the chimpanzees, and that they showed no significant difference in the speed to regrowing skin per day among different primates. They grew it at about 0.62 millimeters per day. Elaine Fuchs who was a stem cell biologist at the Rockefeller University who studied the skin growth and repair was not involved in the research itself, however, said that the results were what she would have expected. This was being the skin healing depends on hair, each hair grows from a hair follicle, which is a house for stem cells. Regularly stem cells would just produce more hair, however since skin is regrowing instead she said that when the epidermis is wounded it is really the hair follicle stem cell that performs the repairing. Since animals are normally furry they are covered in follicles, which can help heal wounds more quickly than in humans. Since humans have very puny hair follicles, they have lost their efficiency to repair wounds as quickly.  This article was very interesting to learn about because I had never fully known that animals were able to heal quicker than humans due their higher amount of hair follicles for their fur. It is fascinating to know that over time loosing the access hair on the human body has prevented us from healing quicker. 

Links:

https://www.nytimes.com/2025/04/29/science/wounds-healing-speed-humans.html

https://www.ncbi.nlm.nih.gov/books/NBK470443/

Roche’s First-in-Class Werner Helicase Inhibitor Shows Early Promise in Phase I Cancer Trial

   

    In a meeting at the American Association for Cancer Research (AACR) Annual Meeting 2025, principal investigator Timothy Yap, M.B.B.S., Ph.D., has published the results of RO758931, a first-in-class drug that inhibits the WRN helicase, a protein essential for survival in certain cancers.

    Although target therapy is the first in a new class of drugs, it is part of a wider group of therapies targeting the DNA damage response for patients with solid tumors and genetic changes known as high microsatellite instability (MSI) or deficient mismatch repair (dMMR). These can occur in many cancer types, and most patients who have these types of solid tumors do not respond to immune checkpoint inhibitors or develop resistance during treatment. Dr, Timothy Yap states:

"RO7589831 appears generally safe and shows promising signals of anti-tumor efficacy. These are encouraging early clinical data, especially because this is a patient population that currently has very limited treatment options. This also further validates Werner helicase as an actionable target, which is exciting because many cancers are highly dependent on it for survival."

    Like other DNA damage response therapies, RO7589831 inhibits the DNA repair enzyme, Werner helicase, preventing it from working properly. This creates a buildup of DNA damage within tumor cells, leading to cell death. However, since normal cells lack MSI, they will not be affected. 

    44 patients were evaluated for safety. Most experienced mild to moderate adverse effects. The most frequent side effects are manageable and similar to those of other treatments. They include nausea, vomiting, and diarrhea. While higher doses are less tolerable, no dose-limiting toxicities were observed. Three randomized dose-level cohorts are underway to establish the optimal recommended dose for the Phase II trial in the future. 

WORKS CITED

 MBT Desk (2025). Roche’s First-in-Class Werner Helicase Inhibitor Shows Early Promise in Phase I Cancer Trial. MedBoundTimes. https://www.medboundtimes.com/biotechnology/roches-first-in-class-werner-helicase-inhibitor-phase-i-cancer-trial

Genentech (2025). A clinical trial to look at how safe and well RO7589831 works at different doses in people with advanced solid tumours, and how the body processes RO7589831. https://genentech-clinicaltrials.com/en/trials/cancer/solid-tumors/a-study-to-evaluate-the-safety--pharmacokinetics--and-a-03859.html

How Horses Hacked Their Genes to Become Super Athletes

New research from Johns Hopkins University reveals that horses owe their incredible athleticism to a rare genetic mutation and a clever evolutionary workaround. Scientists discovered that horses, donkeys, and zebras have a premature stop codon in the KEAP1 gene, which usually halts protein production and can cause disease. But in a viral-like twist, horses evolved a way to override this stop signal, enabling them to produce a full, functional KEAP1 protein.

This tweak supercharges the NRF2/KEAP1 pathway, which is vital for energy production and protecting cells from oxidative stress during intense exercise. The result? Horses generate more cellular energy and are better equipped to handle the physiological demands of speed and stamina. Beyond explaining horsepower, this discovery could open new doors for treating inherited and age-related diseases in humans, especially those caused by similar premature stop codons. As researcher Elia Duh puts it, this breakthrough highlights not only a key piece of horse evolution but also a promising avenue for medical innovation.

sources:

https://hub.jhu.edu/2025/05/01/genetic-mutations-and-evolutionary-trick-makes-horses-athletic/

https://www.science.org/doi/10.1126/science.adr8589