Hope for Prevention of a Genetic Disease Before Birth

    Stanford medicine discovered a new technique to treat a rare genetic disorder called Fanconi anemia in babies before they are born. Fanconi anemia is a disease that causes a deficiency in DNA repair. So, when cells are dividing problems emerge in bone marrow not making blood and immune cells. This results in the children having lower energy levels, low platelet levels, headaches, greater risk of infections and cancer, and pale skin.

    This technique is done by a prenatal stem cell transplant. Pregnant moms donate healthy blood-forming stem cells which then are infused into her uterus through the umbilical cord. This treatment suggests that the features of the babies developing immune system can allow this transplant to settle the disorder before the baby is born. This technique is very new and Agnieszka Czechowicz, a Stanford Medicine pediatric hematologist who is responsible for this research, has only done this approach to the first research participants. Many questions still exist because the treatment has only started recently. However, a survey about what people think of the prenatal treatment concept showed that 100% of Fanconi amemia patients would undergo this prenatal diagnosis. 

Figure 1. Explanation of the Disease 

This article brings hope to everybody---but especially parents-to-be who are expecting their child to have this genetic disease. When the fetus has Fanconi anemia, they have a lower stem cell count so there is room for the mother's healthy blood-forming stem cells. This study was also tested in mice and was successful at other institutions as well. This research also believes that the children would never need subsequent therapies so they could live a typical life after birth. A major disease that could eventually affect the child later in life is cancer. If this prenatal transplant occurs, the child would not be at a high risk for cancer and have to deal with months of chemotherapy. Overall, these findings give people a reason to try to treat this disease before birth. 

Source: https://med.stanford.edu/news/insights/2026/03/fanconi-anemia-prenatal-stem-cell-transplant-trial.html 

Link specifically about Fanconi anemia: https://my.clevelandclinic.org/health/diseases/14473-fanconi-anemia-fa 

Genetics, Consanguinity, and Rare Neurological Diseases

This research article explains how genetics plays a major role in brain-related disorders, especially in families where parents are closely related, known as inbreeding. This type of relationship is more common in some parts of the world, like the Middle East and Africa. The researchers observed the advances in sequencing technologies, where whole exome and genome sequencing have sped up the discovery of new genes, and helped scientists understand how consanguinity influences genetics by identifying new disease-related alleles, hypomorphic and founder alleles. Particularly, consanguinity increases the chance that a child inherits the same harmful gene from both parents causing the risk of rare diseases becoming higher like Wilson’s disease, Kleefstra syndrome, mitochondrial encephalomyopathy, lactic acidosis and stroke. This is called an autosomal recessive disorder. One of the important ideas from the article, many rare genetic diseases affect the brain and nervous system because neurons are very specialized cells that the body cannot easily regenerate so even small genetic mutations can disrupt important functions like how neurons grow, communicate, or produce energy. The suggested treatments for rare neurological disease in small groups by applying symptom management (medications, therapies, surgery), and emerging precision medicine like gene therapy to optimally reduce the risks. 

The article demonstrates why some rare neurological diseases appear more often in certain populations where consanguineous mating has become traditional and how science works toward better prevention, also early diagnosis can assist doctors manage symptoms and give genetic counseling to families.

Source:

https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2025.1494253/full#share

Additional Source:

https://www.ebsco.com/research-starters/health-and-medicine/consanguinity-and-genetic-disease

Are DNA Testing Kits Putting Your Privacy at Risk?

DNA testing kits such as 23andMe have become very popular because they help people discover their ancestry and potential health hazards. These tests are very easy to use and help people get interesting information about their own genes.

Nevertheless, there are some concerns about their use. Many companies store genetic information, and there is a potential risk that this information might be used without the individual's clear knowledge. Genetic information is very personal and also can be abused.

I think these tests are very helpful, and individuals should be aware of the potential risks. It is essential to read the privacy policy before giving out their DNA. DNA testing is very helpful, and it should be used with caution.

Source: https://www.consumerreports.org/health/dna-test-kits/privacy-and-direct-to-consumer-genetic-testing-dna-test-kits-a1187212155/

Additional Link: https://medlineplus.gov/genetics/understanding/dtcgenetictesting/directtoconsumer/

Yogi Patel
03/23/26

Tags: #DNATesting #Genetics #Privacy #DNA 

A Fish That Skips Sex and Still Survives: A Genetic Mystery

                 Most species rely on sexual reproduction to mix genes and maintain healthy genetic diversity. However, scientists have discovered a unique fish species that appears to survive without traditional reproduction. The Amazon molly, an all-female fish species, reproduces through a process called gynogenesis. This is where the presence of sperm from a related species triggers reproduction but the sperm’s DNA is not actually incorporated into the offspring.

Normally, species that reproduce without mixing genes are expected to accumulate harmful mutations over time. Without the genetic variation created by sexual reproduction, these mutations can accumulate and eventually threaten the survival of the species. Because of this, scientists once believed that asexual species would not survive for long periods of time.

Recent research has revealed that the Amazon molly may avoid this problem through a genetic process known as gene conversion. Gene conversion is a mechanism where DNA sequences can be copied from one chromosome to another, effectively repairing or replacing damaged genetic information. This process allows the fish to remove some harmful mutations and maintain a relatively healthy genome.

                                 

This discovery is significant because it challenges long-standing ideas about evolution and reproduction. Scientists previously believed that sexual reproduction was essential for long-term survival because it helps prevent the buildup of harmful mutations. However, the Amazon molly has existed for more than 100,000 years, suggesting that alternative genetic mechanisms can help maintain genetic stability.

Understanding how gene conversion works in this species could help scientists learn more about how genomes repair themselves and how evolution can occur in unexpected ways. This research may also provide insights into how genetic mutations are managed in other organisms, including humans.

Source: 

https://www.sciencenews.org/article/sex-skipping-fish-hacks-evolution-gene

Additional Link: 

https://medlineplus.gov/genetics/understanding/mutationsanddisorders/

A Pattern of Hair Loss in Genetics

  Many people believe that baldness was originally caused by their mentally health and diet, this is correct; However, in reality, genetics also contribute significantly to the risk of hair loss.

    The article explains Androgenetic alopecia (AGA), also known as pattern baldness, is one of the most common genetic conditions affecting both men and women. Researchers at the National Institute of Health show that hair loss is not caused by just one gene. Instead, multiple genes work together to influence if someone experiences hair thinning or baldness. One of the most important genes involved is the androgen receptor (AR) gene. This gene affects how hair follicles respond to hormones like dihydrotestosterone (DHT). In people with certain genetic variations, hair follicles become more sensitive to DHT, which causes them to shrink over time. Consequently, hair becomes thinner and eventually stops growing.

   Although AGA is inherited from both parents, estimating shows men have a higher tendency of hair loss (85%) compared to women (33%).

    Besides genes creating the risk, this study highlights lifestyle factors as high level of stress, poor diet, lack of sleep, low exercise and overall health can also influence how quickly hair loss happens. However, even if someone has the genes, it "does not always" mean they will definitely go bald.

    Today, treatments including oral minoxidil, finasteride and low-level laser therapy have been discovered and implemented successfully. It has partially helped people with AGA improve their appearance, thereby enhancing their quality of life. This article helps scientists better understand the genetic causes of AGA and may lead to earlier risk prediction, also more effective treatments in the future.

Source:

https://pmc.ncbi.nlm.nih.gov/articles/PMC12837269/

Another Source:

https://medlineplus.gov/genetics/condition/androgenetic-alopecia/

CRISPR Advancements for Human Health - Gene Editing Technology

 

CRISPR Advancements for Human Health

A recent publication presents the ways in which CRISPR technology is continuing to shape modern medicine and human health. CRISPR technology is a gene-editing technology that enables scientists to edit the DNA sequence by cutting and replacing parts of the genetic code. This technology is very significant in the field of science as it enables scientists to correct genetic mutations.

The article presents the ways in which CRISPR technology can be used in the future to treat various diseases such as genetic disorders, cancer, and even infectious diseases. It also presents the ways in which newer technologies such as base editing and prime editing are being developed to enable more precise changes to the DNA sequence without causing significant damage to the genome.

Another important thing that is noted is that CRISPR has the ability to either increase or decrease gene expression depending on how it is utilized. As such, this is a very flexible tool that is available to scientists. Nevertheless, there are still challenges that need to be addressed, such as ensuring that the gene is edited correctly without any unintended changes in the DNA, referred to as off-target effects.

In my opinion, this research is very significant since it illustrates just how far genetics has come and how it can be utilized to better human health. CRISPR has the potential to cure diseases that were previously untreatable. Nevertheless, it is also essential that more research is conducted on its safety and ethical concerns. Overall, this article illustrates that CRISCR has the potential to play a significant part in medicine in the future.

Reference: https://pmc.ncbi.nlm.nih.gov/articles/PMC11057861/pdf/ms121_p0170.pdf

Additional Link: https://www.genome.gov/genetics-glossary/CRISPR

Yogi Patel

03/18/26

Posted By: Yogi Patel at 5:00 PM     

Tags: #CRISPR #Genetics #DNA #GeneEditing #Medicine # Biotechnology

Influence of Genetics on Bipolar Disorder

    This article discusses a study on individuals with bipolar disorder and individuals without bipolar disorder from various racial groups to determine the role genetics has on this disorder. To preface, bipolar disorder is a when a person experiences extreme mood shifts and episodes of depression. The results showed that about 300 gene locations and 6 different genes are linked to bipolar disorder. This study also lead researchers to notice the differences in the organization of genes of the people who have the disorder. The genes that are linked to bipolar disorder are associated with an increased risk of schizophrenia and depression. A lot is still unknown about this specific disorder but this research could potentially lead to more helpful or long term treatment opportunities.

Figure 1: Fictional art of a person's brain who has bipolar disorder

   As mentioned above, genes that are linked to bipolar disorder can also be related to the risk of other mental disorders. It is very interesting that people can only have one of the disorders and not experience all of them if the genes overlap. The cause of bipolar disorder is partially due to specific genes and their different architectures but also environmental factors do influence a person being diagnosed with bipolar disorder. There is not one specific gene or even cause that makes someone have bipolar disorder making the treatment difficult. Also, bipolar disorder varies within people. Hopefully with time and research, studies are able to understand why people have different experiences with the disorder. This study will help the production and creation of more personalized treatments to help individuals living with bipolar disorder. 

Reference: https://www.nimh.nih.gov/news/science-updates/2025/study-illuminates-the-genetic-architecture-of-bipolar-disorder 

Additional link explaining bipolar disorder: https://www.mayoclinic.org/diseases-conditions/bipolar-disorder/symptoms-causes/syc-20355955

Brooke McMonagle

3/17/26

The Genetic Role of Ozempic and the Weight loss Benefits

 

    With the recent development of GLP-1 for weight loss growing across the nation the carrying success rates has raised question on genetic influences of results. Whole a large quantity of patients sees life-changing results there is still about 15% of patients who see no change. An eye-opening by Cleaveland Clinic in September of 2025, dove into the genetic factors that could explain why 15% of patients do not see results and genetic factors related to those statistics.

    Specifically, the study focused on the GLP1R gene, which is a gene that provides the receptor building blueprint in our bodies that correlate to the GLP-1 hormone. The study demonstrated that variation in the GLP1R gene directly impact how the receptors interact with the hormone/mediation. While genetic variation of the GLP1R gene is irreversible these finding still hold value as the knowledge can be used in precision medicine.

    Weight loss medication is expensive, especially if it is for cometic weight loss, which is rarely covered by insurance. These findings could allow patients to participate in a genetic test that could indicate the results they may see on the medication. With the implementation of GLP-1’s to a large percentage of individuals, knowing there are gentic influences on results is very crucial financially, mentally, and physically for patients and doctors.

Tags: #GLP-1 #GLP1Rgene #Genetics #Weightloss #Genevariations

Sources: 

https://dom-pubs.onlinelibrary.wiley.com/doi/10.1111/dom.16612?af=R 

https://dom-pubs.onlinelibrary.wiley.com/doi/10.1111/dom.16612?af=R