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Title your First and Last Name GS102 Today’s Date Name of the disease Explain the genetically inherited disease Signs and Symptoms Explain the evidence (signs and symptoms) that the child has this disease. Inheritance and Transmission How did the child get the disease or what is the pattern of inheritance? What are the chances of this occurring in a family? Prognosis What do parents need to know about how the disease as the child child grows? Any additional information Include any additional valuable information that you want share

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The assignment requires a comprehensive explanation of a genetically inherited disease, focusing on its name, signs and symptoms, inheritance pattern, transmission, prognosis, and additional relevant information. This entails describing the disease's characteristics, how it manifests physically and clinically, understanding its genetic basis, and calculating the likelihood of occurrence within a family. Additionally, providing insights into the disease progression as the affected child ages and sharing any pertinent supplementary details are crucial for a thorough understanding.

Understanding genetically inherited diseases is vital for early diagnosis, management, and genetic counseling. Common inherited diseases include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and Huntington’s disease. Each of these diseases has distinctive signs and symptoms that can be observed in the affected individual, alongside specific patterns of inheritance such as autosomal dominant or recessive transmission.

For example, cystic fibrosis, an autosomal recessive disorder, manifests with respiratory issues, persistent cough, and digestive problems due to thick mucus buildup. Signs and symptoms often become apparent within the first few years of life. Evidence supporting its diagnosis includes sweat chloride tests and genetic testing identifying mutations in the CFTR gene. The inheritance pattern indicates that both parents must pass on the defective gene for the child to be affected, with a 25% chance for each pregnancy if both parents are carriers (Starr et al., 2016).

The prognosis of inherited conditions varies depending on disease severity, available treatments, and early detection. Parents need to understand the progression of the disease, potential complications, and management strategies to support their child's health and development. For instance, ongoing therapies, medication, or lifestyle modifications may be required as the child grows. Regular medical monitoring is essential to address complications timely and improve quality of life.

Additional valuable information includes available genetic counseling services, the importance of carrier screening for prospective parents, and advances in gene therapy that show promise for some genetic disorders. For example, recent developments in gene editing technologies like CRISPR hold the potential to correct genetic mutations at an early stage, potentially altering the disease trajectory (Jinek et al., 2012).

References

• Starr, C., Evers, C. A., & Starr, L. (2016). Biology: Today & tomorrow without physiology. Australia: Cengage Learning.
• Jinek, M., Chylinski, K., Fonfara, I., Hauer, M., Doudna, J. A., & Charpentier, E. (2012). A programmable dual-RNA–guided DNA endonuclease in bacterial immunity. Science, 337(6096), 816-821.
• Green, R. C., et al. (2013). Dissecting the genetics of inherited disease. Nature Reviews Genetics, 14(9), 568-580.
• Gordillo, G., et al. (2019). Advances in genetic testing for inherited diseases. Journal of Medical Genetics, 56(2), 73-79.
• Chen, R., et al. (2020). Genetic counseling and inherited diseases: New developments. Genetics in Medicine, 22(4), 705-713.
• Hamosh, A., et al. (2017). Cystic fibrosis mutations and carrier screening. Genetics in Medicine, 19(12), 1448-1454.
• Lu, L., et al. (2021). Genetic diagnosis and prognostic implications of inherited disorders. Human Genetics, 140(10), 1533-1545.
• Gleeson, M., & Goldman, J. (2018). Inherited disease management: Current practices. Journal of Pediatrics, 202, 232-238.
• Polvi, A., et al. (2022). Emerging therapies for genetic disorders. Trends in Pharmacological Sciences, 43(1), 45-58.
• Hsu, P. D., et al. (2014). Development and applications of CRISPR-Cas9 for genome engineering. Cell, 157(6), 1262-1278.