miRNAs Serving as Biomarkers

 

After difficult births some newborns can experience seizures, and breathing issues leaving doctors very little time to identify any other signs of neurological dysfunctions caused by a brain injury. However scientists have recently discovered a potential biomarker for neonatal encephalopathy which could help scientists make decisions about preventative measures, and different options for therapy. The noninvasive biomarkers are specific miRNAs found within blood samples. Without biomarkers Physicians struggle to determine if a newborn has brain damage and if therapy would be helpful. The lead scientist, Kobeissy, and his team acquired blood samples from infants that had experienced hypoxic stress. By using a microarray to measure the levels of miRNAs of newborns that did and did not develop neonatal encephalopathy within six hours of birth they were able to find elevated levels of miR34c-5p, miR491-5p, and miR346 in infants that developed neonatal encephalopathy. This means these miRNAs have the potential to serve as biomarkers for neonatal encephalopathy.

https://www.the-scientist.com/tiny-biomarkers-for-small-patients-with-brain-injuries-72015

https://www.nature.com/articles/s41598-024-57166-z#:~:text=These%20attributes%20highlight%20their%20suitability,implicated%20in%20conditions%20like%20NE.

Genetics May Determine if a Vegetarian Diet is Right

 In the article, researchers discuss how depending on if you are a carrier for certain genes, you may want to avoid a vegetarian/vegan diet. Usually, being vegetarian is considered to be healthy since it can have positive health benefits. For example, studies done have found that being a vegetarian caused cholesterol levels to lower due to consuming more unsaturated fats and less saturated fats. However, if one is a carrier for certain genes they might experience a decline in kidney function and a decrease in calcium when following a vegetarian diet. This really goes to show how important genes are in deciphering how a person's body reacts to different daily life practices.

I found this interesting since I have a decent amount of friends and family members who follow a vegetarian diet and it makes me wonder how many people I know may carry genes like this.

Gene-Based Therapy Restores Cellular Development and Function in Brain Cells From People With Timothy Syndrome

            The article “Gene-Based Therapy Restores Cellular Development and Function in Brain Cells From People With Timothy Syndrome'' explains that there is a potential new therapy for Timothy syndrome, which is a life-threatening genetic disorder that affects many body styles, leading to cardiac, neurological, and psychiatric symptoms as well as leading to webbed fingers and toes. The particular treatment used is a cellular function; a 3D structure known as organoids could be a foundation for a new treatment. The specific gene that is examined is CACNA1Ct, which has a mutation that causes Timothy syndrome in small pieces of genetic material that can bind the gene products, which will promote the production of a protein not carrying the mutation, which is called antisense oligonucleotides (ASOs).In the lab, researchers applied antisense oligonucleotides to human brain tissue to restore normal cell function. It was transplanted into the brain at rates and was used from cells with people with Timothy syndrome. The gene mutation Timothy syndrome affects the exon 8A region of the CACNA1C gene, which is critical for cellular communication. Lastly, the findings in the lab will be used in a clinic to treat Timothy's syndrome effectively.

Chen, X., Birey, F., Li, M.-Y., Revah, O., Levy, R., Thete, M. V., Reis, N., Kaganovsky, K., Onesto, M., Sakai, N., Hudacova, Z., Hao, J., Meng, X., Nishino, S., Huguenard, J., & Pașca, S. P. (2024). Antisense oligonucleotide therapeutic approach for Timothy syndrome. Nature. https://www.nature.com/articles/s41586-024-07310-6 .

New Tests To Prevent Hearing Loss In Newborns

    The article "Genetic Diagnosis of Childhood Sensorineural Hearing Loss" emphasizes the significance of genetic testing in diagnosing sensorineural hearing loss in children. It points out that as many as 60% of congenital or early-onset SNHL cases are linked to genetic causes. Specific genetic mutations can interfere with the development or function of crucial hearing structures, such as the cochlea or auditory nerves. The study involved 105 pediatric patients with bilateral SNHL, diagnosed through neonatal screening or later due to language delays or other risk factors. It demonstrates the wide range of genetic mutations associated with SNHL, with mutations found in genes such as GJB2, USH2A, and STRC, among others. The research reveals a 48% diagnostic yield from genetic testing, underscoring its effectiveness in identifying pathogenic or likely pathogenic variants responsible for SNHL. This information not only aids in prognosis and management but also provides guidance for genetic counseling to prevent recurrence in future pregnancies and to inform family planning decisions. This knowledge enhances diagnostic accuracy and shows potential for future therapeutic advancements to improve outcomes for individuals with hearing loss.

Del Barrio, S. R., Fernández, A. G., Quesada-Espinosa, J. F., Sánchez-Calvín, M. T., Gómez-Manjón, I., Sierra-Tomillo, O., ... & de Vergas Gutiérrez, J. (2024). Genetic diagnosis of childhood sensorineural hearing loss. Acta Otorrinolaringologica (English Edition), 75(2), 83-93.

 The article “Gene Therapy Improves Vision in People With Inherited Blindness” discusses the significant breakthrough in the field of genetics in which gene therapy has shown positive results in improving visitation for people who have suffered from inherited blindness in the early stages of the clinical trial. About 14 people with Leber Congenital Amaurosis (LCA) which is a rare genetic disease which both parents must carry the defective gene for the condition in order to pass it onto their children will lead to babies to lose some or even all of their sight from birth. In the clinical trial a lot of people had improvement in their vision with a signal injection. Leber Congenital Amaurosis affects 2 to 3 out of 100,00 babies each year; mostly all babies are born blind or some can begin to lose their eyesight at 6 months of age from being born. n. Leber Congenital Amaurosis is primarily caused by a mutation in the centrosomal protein 290 gene which causes a malfunction in the rods and cones of the retina leading to defect incoming visual signals and processing of signals that are received by the brain which this gene is the leading cause of inherited blindness in the first decade of life. This led to come up with a genetic solution which the CRISPR-Cas9, which is a gene editing tool which acts as a pair of gene level scission which can cut away the portion of the mutated gene leading the CRISPR-based gene medicine directly injected inside the body.The first injection CRISPR-Case for treatment of LCA was given in early 2020 at Casey Eye Institute at Oregon Health & Science University in Portland which the results showed 11 participants had improvement in the one measure vision, 6 participants stated they had improved vision-related quality of life and 4 participants stated that improvement in visual activity by stating they could see certain letters or shapes in a particular chart. 

The CRISPR-based gene has demonstrated clinical meaningful outcomes that have primarily improved vision outcomes in people's life.The treatment had involved 12 adults and two children which were monitored every three months for one year and then less often in two years.As of now, future research is needed in order to determine the amount of dosage required to see how much vision can be improved with people Leber Congenital Amaurosis as well as if it could benefit others with treatment and people who have similar genetic disorders with vision and see if there vision can be improved or with retinal disease. As of November 2022 the clinical trial has been in November 2022 to the needs of commercial partners in order to collaborated to development more experiential therapy for the treatment of Leber Congenital Amaurosis.As of now researchers are primarily trying to find to work with commercial partners and to collaborate with others and try to conduct large scale trials.Overall, future research is needed in order to primarily advance the treatment overall. 

 Howard, Jacqueline. “Experimental Gene Therapy Restores Some Vision in Patients with Inherited Blindness.” CNN, Cable News Network, 6 May 2024, www.cnn.com/2024/05/06/health/gene-editing-blindness-study-scn/index.html

 The general view in the topic is that environmental factors are key contributors to cancer causes. Studies have shown that 80–90% of cancer cases are caused by environmental exposures to things like food, radiation, alcohol, and tobacco. Twin studies, like the one done by Lichtenstein et al., are crucial for distinguishing between environmental and inherited factors.They came to the conclusion that environmental factors are the main cause of cancer, accounting for at least 65 percent of the risk at widely distributed cancer spots, based on data from approximately ninety thousand Scandinavian twins.But genetic factors also matter a lot, especially when it comes to interactions between genes and environment. One example of this is the significant heritable component (42 percent) observed in prostate cancer. In order to comprehend and control genetic and environmental risk factors for cancer prevention and therapy, comprehensive molecular epidemiology research is necessary, according to the study's conclusions. By integrating these knowledge, cancer prevention strategies may become more successful. 

Ancer -N Ature, C., & Urture, N. (n.d.). 343, 135. https://core.ac.uk/download/pdf/15053172.pdf

Is genetic testing accurate ?

     This article gives its readers insight into a public figure Olivia Munn’s cancer diagnosis. The article starts by stating that before her diagnosis she had gotten genetic testing done in order to rule out many illnesses. Upon further testing from her gynecologist it was discovered that although she had tested negative for getting markers that are commonly associated with breast cancer, she had luminal B. Although her diagnosis was devasting for those around her, her doctors were able to successfully treat her. The article also encourages women to ask their doctors to calculate their breast cancer risk assessment scores.

    I found this article both interesting and insightful. Despite extensive genetic testing women can still test positive for breast cancer. Unfortunately, not all women can access the same level of medical attention. However, this article highlights the importance of routine monitoring. Routine monitoring can lead to early detection as well as more successful treatments.

Link

Deeper understanding of malaria parasite development unlocks opportunities to block disease spread

Natural malaria infections have undergone more thorough genetic study than in the past, yielding data that might help understand and stop transmission. Using single-cell RNA sequencing, the critical developmental stages of the malaria parasite Plasmodium falciparum are thoroughly characterized. This gives detailed information about the stages of this parasite's life cycle as it develops and changes from an asexual to a sexual state, which is necessary for the parasite to be able to infect mosquitoes. The Malaria Cell Atlas project's recent emphasis on spontaneous infections aligns with the advent of malaria vaccines and the continuous rise in treatment resistance. In addition to generating far more genetically varied parasites than any other method, single-cell RNA sequencing provides us with a window into parasite gene use. Citations: Wellcome Trust Sanger Institute. "Deeper understanding of malaria parasite development unlocks opportunities to block disease spread." ScienceDaily. ScienceDaily, 2 May 2024. .