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Hello Rani, Manisha, Genetic screening can help determine the prevalence and occurrence of genetic diseases including Huntington's disease and Marfan syndrome. It is obtainable to determine who has inherited the genetic mutation that causes the condition by screening those who are at risk for getting these disorders. Making educated judgments regarding reproductive options and offering early interventions and therapies to enhance outcomes are both achievable with the use of this information. For example, a genetic test may determine if a person has the mutant copy of the huntingtin gene, which is the cause of the condition (McColgan & Tabrizi, 2018). This gene is responsible for the development of Huntington's disease. Informed choices about family planning and actions to control the disease's symptoms can be made by a person if they are aware that they carry the mutant gene. Additionally, even if a person does not currently exhibit symptoms, genetic screening can assist identify those who are at high risk of acquiring the condition in the future. As a result, early disease-management strategies may be possible to prevent or postpone symptoms. The FBN1 gene mutations that cause Marfan syndrome can be found by genetic testing. This information can help individuals and their families to understand their risk of developing the disease and make informed decisions about family planning ( Kim et al., 2020). It can also facilitate early diagnosis and treatment, improving outcomes and preventing complications. A condition with an autosomal dominant genetic component can be diagnosed before it manifests. To achieve this, inheritance patterns are identified by looking at the disorder's family history. One gene on one of the non-sex chromosomes (autosomes) can become mutated, leading to autosomal dominant diseases. Two copies of each gene, one from each parent, are inherited by each individual. The person will have the condition even if the other copy is healthy if one of these copies is modified. Given that the illness can be inherited identically by males and females due to the mutation's location on a non-sex chromosome ( Turner et al., 2015). Regardless of the child's sex, there is a 50% chance that they will inherit the mutant gene from one of their afflicted parents. The condition will be present in a person who inherits the defective gene, however, the age of onset and severity of symptoms may vary. References: Kim, K. H., Hong, E. P., Shin, J. W., Chao, M. J., Loupe, J., Gillis, T., Mysore, J. S., Holmans, P., Jones, L., Orth, M., Monckton, D. G., Long, J. D., Kwak, S., Lee, R., Gusella, J. F., MacDonald, M. E., & Lee, J. M. (2020). Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington's Disease Modifier Effects. American Journal Of Human Genetics , 107 (1), 96–110. https://doi.org/10.1016/j.ajhg.2020.05.012 McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European Journal Of Neurology , 25 (1), 24–34. https://doi.org/10.1111/ene.13413

Turner, T. N., Douville, C., Kim, D., Stenson, P. D., Cooper, D. N., Chakravarti, A., & Karchin, R. (2015). Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns. Human Molecular Genetics , 24 (21), 5995–6002. https://doi.org/10.1093/hmg/ddv309

Hello Soriano, Sheryl Thank you for your post, Genetic screening can play a significant role in determining the occurrence and prevalence of autosomal dominant genetic disorders, such as Huntington's disease and retinoblastoma, among others. In general, genetic screening can be performed to identify specific genetic mutations or variations that are associated with these disorders ( McColgan & Tabrizi, 2018). By analyzing an individual's DNA, it is possible to determine if they carry the genetic mutation that causes a particular disorder, even if they have not yet developed any symptoms. This information can be used to identify individuals who may be at risk of developing the disorder and to provide them with appropriate medical care and counseling ( Ashwini & Minu, 2022) . In the case of Huntington's disease, genetic screening can be used to identify individuals who carry the genetic mutation that causes the disorder. If a person is found to carry the mutation, they have a 50:50 chance of passing it on to their offspring. This information can be used to help families make informed decisions about having children and to provide appropriate medical care and counseling to those who are at risk of developing the disease. Similarly, in the case of retinoblastoma, genetic screening can be used to identify individuals who carry the genetic mutation that causes the disorder ( Ashwin & Minu, 2022) . However, because retinoblastoma can have incomplete penetrance, not all individuals who carry the mutation will develop the disease. In these cases, genetic counseling may be necessary to help individuals understand their risk of developing the disorder and to make informed decisions about their medical care and future reproductive choices. In general, predicting the transmission of an autosomal dominant disorder is possible through genetic testing and counseling. As mentioned above, genetic testing can identify individuals who carry the genetic mutation that causes the disorder and provide information about their risk of passing it on to their offspring ( Ashwini & Minu, 2022) . Genetic counseling can help individuals and families understand their risk of developing the disorder and make informed decisions about their medical care and future reproductive choices. References: McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European Journal Of Neurology , 25 (1), 24–34. https://doi.org/10.1111/ene.13413 Ashwini, S., & Minu, R. I. (2022). Consanguinity in risk assessment of retinoblastoma using machine learning. In Artificial Intelligence and Technologies: Select Proceedings of ICRTAC- AIT 2020 (pp. 579-585). Springer Singapore.

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Hello Parra, Thank you for sharing information about autosomal dominant disorders, specifically Huntington's disease and Marfan syndrome. These genetic illnesses can have a significant impact on individuals and their families, and it's crucial to be aware of the risks associated with inheriting these conditions. Huntington's disease is a particularly devastating disorder that affects the brain, leading to motor and cognitive decline, as well as psychiatric problems. It's caused by a mutation in the HTT gene, which produces a toxic form of the protein huntingtin that damages brain cells ( McColgan & Tabrizi, 2018). It's important to note that both men and women can develop Huntington's disease, and there is a 50% chance of inheriting the mutant gene from an affected parent ( McColgan & Tabrizi, 2018) . Marfan syndrome, on the other hand, affects the skeletal, cardiovascular, and ocular systems due to a mutation in the FBN1 gene, which produces the protein fibrillin-1. This defective gene causes the body to produce abnormal fibrillin-1, which weakens the connective tissues and leads to a variety of symptoms. Like Huntington's disease, Marfan syndrome affects both males and females equally ( Milewicz et al., 2021). It's important to remember that genetic illnesses can have a significant impact on individuals and their families. With advances in genetic technology, it is now possible to identify genetic mutations associated with these disorders before symptoms appear. This information can be used to inform family planning decisions, such as prenatal testing or the use of assisted reproductive technologies to avoid passing on the mutation to future generations. Genetic counseling and testing can help individuals better understand their risk of inheriting or passing on a genetic condition, allowing them to make informed decisions about their health and future ( Milewicz et al., 2021). In addition to genetic counseling and testing, there are also supportive treatments available to help manage the symptoms of these disorders. For example, physical therapy can be used to help individuals with Huntington's disease maintain their motor function, while medications and surgeries may be used to address the various symptoms of Marfan syndrome. References : McColgan, P., & Tabrizi, S. J. (2018). Huntington's disease: a clinical review. European Journal Of Neurology , 25 (1), 24–34. https://doi.org/10.1111/ene.13413 Milewicz, D. M., Braverman, A. C., De Backer, J., Morris, S. A., Boileau, C., Maumenee, I. H., Jondeau, G., Evangelista, A., & Pyeritz, R. E. (2021). Marfan syndrome. Nature Reviews. Disease Primers , 7 (1), 64. https://doi.org/10.1038/s41572-021-00298-7

Question 29: Primary role is the digestion of the 3 macronutrients (carbs, protein & fat) Question 28: unplanned pregnancy - possibly leading to the development of fetal alcohol syndrome (FAS) and/or sudden infant death syndrome (SIDS) motor vehicle accidents / DUIs, alcohol abuse, and dependence, unsafe sex leading to potential spread of HIV and other sexually transmitted diseases question 27: has an acid pH of 8 - 9 in the stomach question 26: Absorption. Question 25: 0.08 Question 24: Active absorption. Question 23: store bile and deliver it into the small intestine only when fat is present Question 22: Wait about 2 hours after a meal before lying down and/or elevate the head of the bed if possible. Question 21: digestive enzymes Question 20: 24 - 48 hours

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