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Nathan Bigham
Human Genetics
Background: Sickle cell anemia is a disease in which the body produces abnormally shaped red blood cells that have a crescent or sickle shape. These cells do not last as long as normal, round, red blood cells, which leads to anemia (low number of red blood cells). The sickle cells also get stuck in blood vessels, blocking blood flow. This condition is caused by mutations in the HBB gene and is inherited in an autosomal recessive pattern, described in the article as the Hemoglobin gene. Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. As for sickle cell anemia, a person who carries one copy of the mutated gene is said to be a carrier for the condition, or to have sickle cell trait.
Question: The researchers are trying to find out how gene therapy can lead to the complete dissolvement of the sickle cell disease in patients suffering from the condition.
How they addressed it: with the help of these test patients the new gene therapy called LentiGlobin. During this process, blood-forming stem cells are collected from the patient’s blood. Harmless lentiviruses are then used to deliver a modified copy of the beta-globin gene into the stem cells. When the cells are later re-infused into the patient, they take up residence in the bone marrow and start making healthy new red blood cells.
Conclusion: In the clinical trial the therapy completely eliminated severe pain crises in the months following infusion and because LentiGlobin uses a patient’s own stem cells, there’s no risk of rejection. One negative aspect of this gene therapy is that patients must first be treated with high-dose chemotherapy to eliminate old stem cells and make room for the modified stem cells. Chemotherapy can be toxic and is associated with a small risk of cancer. Two patients in the trial developed leukemia, which the researchers suspect was related to the chemotherapy, not to LentiGlobin treatment. It seems this therapy has high hopes for the future as long as they find a better way to practically eliminate the infected blood cells.
https://www.sciencedaily.com/releases/2021/12/211213160126.htm
Destinee Porter
Human Genetics
Background: Post Traumatic Stress Disorder or PTSD is a psychiatric disorder that can occur in individuals that have experienced or witnessed traumatic events like natural disasters, a terrorist attack, war, rape, etc. People with PTSD have symptoms including intense, disturbing thoughts and feelings related to their experience that last long after the traumatic event has ended. It is possible for victims to relive the events through flashbacks, or nightmares, feelings of sadness, fear, or anger. People with PTSD may also avoid situations or people that remind them of the traumatic event.
Question: Researchers are trying to figure out which individuals may be susceptible to PTSD and why?
How did they address the question: Scientists used genetic data from 195, 684 individuals (29,539 with PTSD, 166, 145 without PTSD) to predict the expression patterns of genes in the brain and other tissues based on machine learning models.
What conclusion did they make: Scientists found two genes that were genetically expected to be expressed at different levels in individuals with PTSD. People with PTSD have a lower expression of a gene called SNRNP35 which, is associated with the region of the brain that is involved with managing stress. However, people with PTSD also showed higher expression of a gene called ZNF140 which is known to affect the expression of genes’ immune cells circulating in the blood. ZNF140 may influence the body’s immune response to increase susceptibility to PTSD.
How has what I’ve learned in Genetics help me understand this article: Knowing that expressivity is the variability at which mutant phenotypes are observed in individuals with a particular phenotype is very helpful to understanding this article because people with normal genes usually show higher expression of the gene SNRN35 according to the article therefore, these people are better at managing stress than those with PTSD. Also, given the gene ZNF140 is associated with the body’s immune cells and the expression this gene being higher seems to mean that there is a decrease in immunity towards PTSD and these people have a higher chance of developing this mental disorder.
https://psychiatry.org/patients-families/ptsd/what-is-ptsd
https://www.sciencedaily.com/releases/2020/06/200602122611.htm