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)

Are GMOs Safe to Eat?

Genetically Modified Organisms (GMO) have been working in agricultural practices to enhance food production and make crops tolerant to pests and diseases. Many researchers believe that the consumption of genetically modified foods is safe and could play an important role in ensuring that there is enough food in the world.

However, there are individuals who remain anxious about the long-term health risks and potential environmental hazards. Furthermore, there is a continuing argument whether GMO products must be labeled for consumers to know exactly what they are purchasing and consuming.

In conclusion, while I am convinced that genetically modified foods are safe according to scientific findings, there is always a need for consumers to know what they are eating. This is because transparency gives the consumer the chance to choose what they will consume. Generally, GMOs have a significant impact on modern agricultural production.

Source: https://www.fda.gov/food/agricultural-biotechnology/gmo-crops-animal-food-and-beyond

Additional Link: https://www.who.int/news-room/questions-and-answers/item/food-genetically-modified

Tags: #GMOs #Genetics #Food #Biotechnology

Genetics playing a role in Baldness Pattern

Genetics on Pattern Baldness

Pattern baldness is a common form of hair loss that affects both men and women. It often appears as a receding hairline in men or diffuse thinning in women. Around half of men experience some degree of hair loss by age 50, while women typically experience it later in life. The androgen receptor (AR) gene, located on the X chromosome, influences how the body responds to androgens like dihydrotestosterone (DHT). When hair follicles are sensitive to DHT, they gradually shrink in a process called follicular miniaturization, leading to thinner, shorter hairs and eventually reduced hair growth.

Baldness is not controlled by a single gene; it is considered a polygenic trait, meaning multiple genes across different chromosomes contribute to a person’s likelihood of developing it. These genes can influence everything from hormone activity to the health of hair follicles. While the AR gene helps explain why baldness is often associated with the maternal side of the family, it is only part of the story. Many other genes inherited from both parents also play a role, making the inheritance pattern much more complex than a simple dominant or recessive trait. Overall, family history can increase the risk of baldness, but it cannot precisely predict when or how it will occur.

Source :How Is Baldness Passed Down? The Genetics Explained - Biology Insights

Another Source: Can genetic testing really predict male pattern baldness and how accurate is it?

Why Genetics Shape GLP-1 Weight Loss Results?

GLP-1 medications, such as Ozempic, become popular for helping people lose weight; however, the survey shows that four people use the same treatment and one of them did not respond to it. So, they do not effectively work on everyone. Recent research suggests that a person’s genes might be part of the reason. Scientists have found certain genetic variants that affect how the body responds to these drugs, particularly, humans usually have two copies of each gene, but these copies can differ. Furthermore, researchers found that people with one copy of the rs10305420 variant lost about 1.7 pounds more than those without it. And the fact is that about 40% of individuals with European and Middle Eastern ancestry carry this variant, the explanation for why people from different populations show noticeable differences in body mass when using GLP-1. 

Additionally, these drugs work by targeting hormones that control appetite and blood sugar, but if someone has a specific gene variant, their body may react differently. This report is important because it could lead to more personalized treatments in the future, where genetic could be tested to predict who will benefit most from GLP-1 medications. 

Source:

https://www.scientificamerican.com/article/how-well-glp-1-weight-loss-drugs-work-may-depend-on-your-genetics/

Additional Source:

https://www.childrenscolorado.org/advances-answers/recent-articles/gene-variants-metabolic-traits/