A Genetic Mutation and Its Role in Schizophrenia-Related Cognitive Impairment

Schizophrenia is a serious mental disorder that hinders an individual’s ability to think, behave, and feel. One of the symptoms of this disorder is difficulty incorporating new information about the world, leading individuals with schizophrenia to lose touch with reality. 

MIT neuroscientists have identified a genetic mutation in the grin2a gene that may contribute to this symptom. This mutation was originally identified in a large-scale screen of patients with schizophrenia. Researchers studied mice with this mutation and found that they had difficulty adapting their decisions when situations changed, meaning they struggled to update their understanding based on new input, mirroring what happens in people with schizophrenia. 

The study concluded that this issue is linked to a malfunction in a brain circuit between the thalamus and prefrontal cortex. Scientists were able to restore normal behavior in the mice by stimulating this circuit, suggesting that targeting it with drugs could help treat cognitive symptoms of schizophrenia in the future.

What I found especially interesting is that the study does not claim this mutation directly causes schizophrenia, but instead contributes to one of its key cognitive symptoms. This reinforces the idea that schizophrenia is a complex disorder influenced by multiple genes and environmental factors, rather than a single cause. It also shows how scientists are beginning to break down mental illnesses into specific biological mechanisms, which could lead to more targeted and effective treatments.

Article: https://news.mit.edu/2026/brain-circuit-incorporates-new-information-may-be-linked-schizophrenia-0318

Additional website: https://www.sciencedaily.com/releases/2026/04/260402042740.htm

Is eye color determined by genetics?

 Eye color is determined by the amount of melanin in the iris, with more melanin leading to brown eyes and less resulting in blue or lighter colors. According to MedlinePlus, eye color is controlled by multiple genes, not just one, making inheritance more complex than simple dominant and recessive patterns. This is why eye color can vary widely, even within the same family.

link : https://medlineplus.gov/genetics/understanding/traits/eyecolor/

Genetic Hearing Loss Treatments Discovered

https://news.med.miami.edu/new-hope-for-treating-genetic-hearing-loss/ 

https://www.chop.edu/treatments/gene-therapy-genetic-hearing-loss 

Researchers at the University of Miami discovered that some cases of inherited hearing loss may be treatable. These cases of hearing loss were thought to be permanent but they may be treatable. The researchers examined individuals who had a family history of hearing loss and found that changes in a gene called CPD interferes with the body's ability to properly process an important amino acid called arginine. When arginine isn’t handled correctly harmful molecules build up in the ear causing 'oxidative stress'. This stress damages and eventually kills key cells needed for hearing. The researchers tested this idea using both animal models and human cells. Their experiments showed that adding certain supplements or using targeted medications and antibodies could potentially restore hearing ability. This means that people with this specific genetic issue might not require surgery but instead could involve certain therapies based on genetic testing. Overall, this discovery points toward a new approach where some genetic hearing disorders could be eliminated entirely.

Sickle cell disease

 

Sickle Cell Disease

                            

Sickle cell disease causes your red blood cells to change into a “sickle” shape. These sickle-shaped cells can stick to each other and block blood flow, which prevents oxygen from reaching tissues and organs. When oxygen cannot reach tissues and organs, it leads to pain.

Sickle cell disease occurs when a person inherits two abnormal copies of the HBB gene, one from each parent. This affects hemoglobin, the protein responsible for carrying oxygen in the blood. This inheritance pattern is described as autosomal recessive. The presence of hemoglobin S (the form associated with sickle cell disease) not only changes the shape of red blood cells but also makes them more fragile. As a result, the cells break down more quickly than normal, making it difficult for the body to maintain healthy oxygen levels. Different combinations of abnormal hemoglobin genes can result in varying types and severities of the disease, but all disrupt how hemoglobin functions.

Link: https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease

Extra Link: Sickle Cell Disease - What Is Sickle Cell Disease? | NHLBI, NIH

Treating Genetic Disease Before Birth: A New Approach to Fanconi Anemia

         A recent study from Stanford Medicine is exploring a new approach to treating Fanconi anemia, which is a rare genetic disorder that impairs the body’s ability to repair damaged DNA. This condition often leads to bone marrow failure, meaning the body is unable to produce enough healthy blood cells. This results in patients experiencing serious complications early in their lives.

        In this study, researchers are testing a prenatal stem cell transplant, meaning the treatment is given before birth. The procedure involves transferring stem cells from the mother into the developing fetus during pregnancy.  This approach may reduce the risk of immune rejection because the fetus naturally tolerates the mother’s cells, which is a major challenge in traditional transplants.

        Previous treatments for Fanconi anemia often required chemotherapy or radiation to prepare the body for a transplant. These treatments may be very harmful, especially for young patients. This new method, however, may allow healthy stem cells to develop in the fetus without the need for these aggressive therapies. Early studies in animals have shown promising results with transplanted cells successfully growing and helping restore normal function.

        This research is significant because it focuses on treating a genetic disease before symptoms even appear. By correcting the problem early, scientists may be able to prevent long-term damage and improve patient outcomes.

        Overall, this study by Stanford Medicine highlights how advances in genetics and stem cell therapy can work together to create new treatment options for patients. If this treatment is successful in humans, this approach may change how genetic diseases are treated in the future and provide safer and earlier interventions for patients.

Source: https://med.stanford.edu/news/insights/2026/03/fanconi-anemia-prenatal-stem-cell-transplant-trial.html Additional Link: https://medlineplus.gov/genetics/condition/fanconi-anemia/

How Epigenetics is Changing What We Know About ADHD

   

 A recent scientific study explores how epigenetic may help explain Attention-Deficit/Hyperactivity Disorder (ADHD).  Epigenetics refers to changes in how genes are turned on or off without changing the DNA itself. These changes can be influenced by environmental factors such as stress, diet, or experiences early in life. The study emphasizes that ADHD is not caused by solely genetics but is the result of the combination of genetic factors and environmental influences. Which are both supported by epigenetics.

    The research is centered around DNA methylation, a process that can control whether certain genes are active. This process may play a role in how ADHD develops, possibly even starting before birth. Scientists also vocalize that while ADHD has become more understood in the past decade, there is still much unknown and more to be discovered in relation to ADHD. Understanding the epigenetics is a crucial step that could help determine ADHD earlier in life, to assist with personalized treatments and monitor the disease over time.

    Overall, this study shows that ADHD is not caused by just one thing. Instead, it is the result of a complex interaction between genes, environment, and biological processes—making epigenetics a key area for future research.

Tags: #Genetics #Epigenetics #ADHD #Methylation

Sources:

https://pmc.ncbi.nlm.nih.gov/articles/PMC7613776/ 

https://www.nature.com/articles/s41398-020-01058-z 

Chronic Kidney Disease Heightens in West African Populations

 New findings in the genomics of chronic kidney disease

Figure 1: APOL1 kidney disease can only be studied in humans and Old World monkey species to protect against African trypanosomes.

    Among a multitude of severe types of kidney diseases, rates are significantly higher in black individuals. This disparity can be attributed to the two genetic risk variants of the APOL1 gene on human chromosome 22. One risk variant, known as G1, consists of two amino acid substitutions near the APOL1 C terminus. The second risk variant, known as G2, is a deletion of two amino acids near the APOL1 C terminus as well. This mutation has only been found in individuals with recent West African ancestry, and has proved to be beneficial in enhancing immunity against parasitic infections, specifically Human African Trypanosomiasis that causes African Sleeping Sickness.

    This study consisted of more than 8,000 individuals from Nigeria and Ghana, emphasizing the necessity for early screening of CKD, as transplants and dialysis treatments are extremely costly and rare in most regions of West Africa. These genomic differences in these populations pose greater risk of complications, such as hypertension-associated end-stage kidney failure, HIV-associated nephropathy, and other non-diabetic kidney diseases.

Sources:

https://journals.lww.com/cjasn/fulltext/2021/02000/apol1_nephropathy__from_genetics_to_clinical.20.aspx

https://www.nature.com/articles/d44148-024-00330-4

Ancestry for your pets?

    Genetic testing on your dog may sound cruel, however a somewhat recent advancement in canine ancestry testing makes it as simple as a cheek swab to determine an adopted mutts entire family tree. An article from Cornell reveals that doing these ancestry tests is not only good for satisfying an owners curiosity, but can reveal countless risk factors and things to be aware of with their dogs. Simply put, the more an owner knows about their pet the better its life is likely to be; they can watch out breed specific issues cancer, arthritis, separation anxiety, etc. (article on breed specific health issues)