The Relation between Ethnicity and Personalized Medicine

 

    While the mechanism of medication release in the human body is relatively the same, there are differences in effectiveness in relation to ethnicity. A recent article explores the variations in people’s genes can affect how well medications work for them. Statistically, research supported by the Clinical and Translational Science Awards (CTSA) Program found that at some point in their lives, four out of five people had taken drugs that could have been affected by their genes.

    Ethnicity is related to genetic variations, which impact disease risk, and the likelihood of specific conditions developing due to inherited genetic traits. Additionally, an individuals immune response to medication as treatment is also influenced by ethnicity. This is known as pharmacogenetics, where genetic differences affect how drugs are processed in the body. Individuals of a specific ethnicity may respond better than individuals of a different ethnicity. One of the most known examples of pharmacogenetics is the testing of CYP2C19 for clopidogrel (Plavix), an antiplatelet drug used to prevent blood clots, strokes, and heart attacks. Patients who are "poor metabolizers" of clopidogrel have a high risk of adverse cardiovascular events because the drug does not work properly. Poor CYP2C19 metabolizers is higher in Asian populations compared to White or African populations.

    Ultimately, using ethnicity in medicine can help doctors better understand patient risks and improve treatment. With the addition of a well-rounded workup and care. The article shows that personalized medicine is becoming more advanced, but it must be used carefully. The goal is to move beyond general categories like ethnicity and toward more precise, individual genetic information. This will allow healthcare to become more accurate, fair, and effective for everyone.

Tags: #Genetics #PersonalizedMedicine #Ethnicity # CYP2C19

Sources:

https://www.attodiagnostics.com/blog/2024/8/how-ethnicity-plays-a-role-in-personalised-medicine/ 

https://ncats.nih.gov/news-events/news/gene-variants-that-impact-drugs-effectiveness 

Rethinking Human Development: Cells Choose Their Fate Earlier Than We Thought

    A recent study published in Nature is reshaping what scientists thought they knew about human development. For decades, biology textbooks taught that embryonic cells decide their roles only after migrating to their final destinations. However, new research from the University of Utah and UC San Diego reveals that many cells, specifically neural crest cells, commit to their future functions much earlier, while still inside the neural tube.Using an innovative “mosaic barcode” technique, researchers traced subtle DNA mutations in adult cells to reconstruct their developmental history. This allowed them to discover that cells destined to become sensory ganglia (responsible for touch and smell) and sympathetic ganglia (controlling involuntary functions like heartbeat and breathing) are already distinct before they even begin migrating.

    This finding challenges a long-standing biological dogma and suggests that the “career path” of these cells is determined within the first few weeks of embryonic development. Even more interesting, once these cells leave the neural tube, they follow highly organized and pre-determined migration patterns to reach their final locations.

    The implications are significant. Conditions like neuroblastoma and neurofibromatosis, both linked to neural crest cells, may actually originate much earlier in development than previously believed. This could shift how scientists approach early diagnosis, prevention, and treatment. Additionally, this research reinforces the importance of early prenatal health. Since critical developmental decisions occur so early, factors like nutrition (especially folic acid intake) and environmental exposures may have a bigger impact than once thought.

Article link: https://neurosciencenews.com/neural-crest-early-commitment-development-30527/

Additional resource: https://healthcare.utah.edu/newsroom/news/2026/04/unlocking-secrets-of-human-development-how-early-nerve-cell-choices-shape

Could Gene Editing One Day Treat Down Syndrome?

Down syndrome is a genetic condition caused by having an extra copy of chromosome 21, which leads to developmental differences and can increase the risk of conditions like early-onset Alzheimer’s disease. In a recent study, researchers explored a new gene-editing approach using a modified version of CRISPR to potentially “silence” this extra chromosome. Instead of targeting individual genes, scientists attempted to insert a gene called XIST, which naturally turns off one X chromosome in females, into the extra chromosome 21. This would essentially deactivate it and reduce the harmful effects caused by having too many active genes.

The researchers found that their improved CRISPR method made inserting the XIST gene much more efficient (about 30 times better than previous attempts). While this is still only being tested in cells in a lab (not in humans yet), it represents an important proof of concept that entire chromosomes might be controlled through gene editing. Scientists emphasize that this is still early-stage research, but it could eventually lead to new treatment strategies in the future.

I think this research is really interesting because it shows how powerful gene editing is becoming. The idea of turning off an entire extra chromosome instead of fixing individual genes is kind of mind-blowing. At the same time, it also raises ethical questions, especially when it comes to genetic conditions like Down syndrome that are part of people’s identities. I think this technology has a lot of potential to help with severe medical complications, but it should be used carefully and respectfully. Overall, this study shows how far genetics has come and how it could completely change the future of medicine.

Source:https://www.reuters.com/business/healthcare-pharmaceuticals/researchers-eye-potential-down-syndrome-fix-via-advanced-gene-editing-2026-04-17/
Additional Source: https://medicalxpress.com/news/2026-04-crispr-bold-silencing-syndrome-extra.html#google_vignette

Genes Responsible for Melanin in Retinal Pigmentation Endothelial Cell Identified

 

In a recent study, researchers have determined several genes responsible for retinal pigmentation.

Retinal pigmentation, in humans, is extremely important for protecting the eye’s photoreceptors from light induced damage. Just like any other skin cell in the human body, the pigmentation of retinal endothelium is determined by the amount of melanin present. 

To determine what gene is responsible for the amount of melanin in an individual's retinal pigment endothelial cells, researchers created a learning framework dubbed “DeepGRP”. This framework analyzed images from the inside of many individuals’ eyes to provide the basis for a genome-wide association study. Upon analyzing the data, 42 heritable single nucleotide polymorphisms were identified. Out of these heritable polymorphisms, the gene ARHGAP18 was recognized as a factor for the creation of melanin. 

This research is important because it provides a look into the genetic components of retinal pigments in the eye, and could provide insight into how retinal disorders such as retinitis pigmentosa could be treated.

Sources:

https://www.science.org/doi/10.1126/sciadv.adw7768

https://pubmed.ncbi.nlm.nih.gov/38728357/

Blood Vessels in Muscles

Carmine Martino

BIOL-2110-001

Dr. Guy Barbato

April 23rd, 2026 

    Researchers identified a gene called RAB3GAP2 that acts as a “brake” on the formation of blood vessels in muscles. When the activity of this gene is reduced, more capillaries can form in muscle tissue. Capillaries are the smallest blood vessels in the body and are responsible for supplying muscles with oxygen and nutrients.

    The research was based on muscle and DNA samples from more than 600 individuals, which allowed researchers to study differences in the number of capillaries in muscle tissue. Through this, they were able to identify a genetic variant that is associated with how many capillaries a person has. The findings also showed that the activity of this gene is not fixed and can be influenced by external factors. High-intensity training was found to reduce the activity of RAB3GAP2, which may lead to increased formation of blood vessels in muscles. This suggests that physical activity can affect how genes influence the body. By identifying this gene and its role, the research helps explain why there are differences in how muscles adapt and develop in different individuals. It also shows that both genetics and training play a role in the formation of blood vessels in muscle tissue.

    At the end of the day, these findings highlight how genes can regulate important processes in the body and how their activity can change under different conditions.

Article:

 https://www.news-medical.net/news/20260218/Researchers-identify-a-genetic-brake-for-the-formation-of-blood-vessels-in-muscles.aspx

Extra Source:

https://www.sciencedirect.com/topics/medicine-and-dentistry/muscle-capillary

The somatic mutations of ALS and other degenerative diseases

A study that target sequenced 88 neurodegeneration-related genes with the purpose of identifying somatic mutations that contribute to Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) also connected specific variants with widespread neurodegeneration. The predicted deleterious single nucleotide variants (SNVs) in ALS and FTD located at DYNC1H1 and LMNA affect multiple central nervous system pathways. Certain alleles of these genes are associated with motor neurodegeneration or severe pediatric diseases with life-precluding ALS. Together, these mutations predisposing to neurodegeneration suggest a broader array of related genes. With the expansion of targeted gene sequencing for numerous neurodegenerative diseases, more commonalities may be discovered.

Source:

https://www.nature.com/articles/s41588-026-02570-6

Additional link:

https://www.insideals.com/

Genetic Technologies Invented to Combat Antibody Resistance in Bacteria

https://today.ucsd.edu/story/next-generation-genetics-technology-developed-to-counter-the-rise-of-antibiotic-resistance 

https://aspe.hhs.gov/collaborations-committees-advisory-groups/carb

One of the most prominent problems in modern medicine is the growth of bacteria that are resistant to current medical drugs or antibodies.  However due to a new breakthrough this could become a problem of the  past.  Researchers at the University of San Diego have invented a new technology that will be utilized to fight the growing threat of antibiotic resistance.  This system is known as the pPro-MobV and it uses CRISPR technologies to inhibit certain genes.  Genes that give bacteria resistance to antibodies and can be passed down to future generations can be targeted and disabled.  This new development offers scientists a new way to eliminate the problems of antibody resistance in different viruses.  

A Gene That May Predict Alzheimer’s Earlier Than Expected

 

  A recent study published by Alzheimer’s Research UK highlights how a specific gene, called APOE4, can strongly influence a person’s risk of developing Alzheimer’s disease. Researchers found that individuals who inherit two copies of this gene, one from each parent, are much more likely to develop Alzheimer’s and often at a younger age than others.

    

    Alzheimer’s disease is not usually caused by just one factor. Instead, it results from a combination of age, lifestyle, environment, and genetics. There are two main types of genes involved: faulty genes, which directly cause rare early-onset Alzheimer’s, and risk genes, which increase the likelihood of developing the disease. APOE4 is considered the most important risk gene discovered so far.

    In this study, scientists analyzed medical records and brain samples from over 10,000 people across the U.S. and Europe. They found that nearly all individuals with two copies of APOE4 showed early biological signs of Alzheimer’s, such as abnormal amyloid protein levels in the brain, by age 55–65. Symptoms of the disease in these individuals typically appeared around age 65, which is about 7–10 years earlier than people with other versions of the gene.

    However, it’s important to note that having the APOE4 gene does not guarantee someone will develop Alzheimer’s. Many other factors, such as diet, exercise, heart health, and overall lifestyle, can influence risk. Because of this uncertainty, genetic testing for APOE4 is not widely recommended outside of research settings.

    This study is important because it helps scientists better understand how genetics contributes to Alzheimer’s disease. By identifying high risk groups earlier, researchers may be able to improve early detection and develop more targeted treatments in the future.

Article link: https://www.alzheimersresearchuk.org/news/inheriting-two-copies-of-apoe4-linked-to-risk-of-alzheimers-at-a-younger-age-study-suggests/

Additional Resource: https://www.nih.gov/news-events/nih-research-matters/study-defines-major-genetic-form-alzheimers-disease