Genetic Disorders Extra Credit Projects ✓ Solved

Genetic Disorders Extra Credit Projectselect A Genetic Disorder From T

Research a genetic disorder from the provided list and prepare a project to present comprehensive information about it. The project can be a tri-fold brochure or a poster, and a fact worksheet must be completed and submitted alongside the project. All work must be original and in your own words, with no copying or pasting. Include a list of references used, with reputable sources encouraged.

Start by selecting a disorder from the list, then use specified reputable websites and additional sources like foundations or organizations dedicated to that disorder to gather information. The project should include all categories of information from the fact sheet, with at least two visuals such as pictures or charts related to the disorder.

If creating a tri-fold brochure, organize the information in sections with visuals as instructed. For a poster, arrange the content creatively and neatly to ensure it is informative and visually appealing. The student's name, period, and references should be on the back-center (brochure) or on the back (poster).

Sample Paper For Above instruction

Genetic Disorder: Cystic Fibrosis

Introduction and General Information:

Cystic fibrosis (CF), also known as mucoviscidosis, is a hereditary disorder that affects the lungs and digestive system due to the production of thick, sticky mucus. It is estimated to occur in approximately 1 in 2,500 to 3,500 live births among Caucasians, making it one of the most common life-threatening genetic conditions in this population (CDC, 2022). CF primarily affects individuals of European descent, but it can occur in all ethnic groups.

The disorder is inherited in an autosomal recessive pattern, which means an individual must inherit two copies of the mutated gene (one from each parent) to be affected. Carriers, with only one copy of the mutation, typically do not show symptoms but can pass the gene to their offspring.

The life expectancy for individuals with CF has improved significantly due to advances in treatment, with many living into their 40s and beyond. However, the disease remains a leading cause of genetic-related respiratory illness in children and young adults.

Symptoms and Diagnosis:

CF symptoms vary but generally include chronic cough, respiratory infections, wheezing, difficulty breathing, and poor growth due to malabsorption. Patients often experience salty-tasting skin, persistent lung infections, and difficulty gaining weight, owing to pancreatic enzyme deficiency.

Diagnosis involves newborn screening tests, sweat chloride test, and genetic testing for the CFTR gene mutation. Prenatal testing is also available via amniocentesis or chorionic villus sampling (Cystic Fibrosis Foundation, 2023).

Inheritance and Genetic Causes:

CF is caused by mutations in the CFTR gene located on chromosome 7, which encodes a protein responsible for chloride ion transport across cell membranes. Mutations disrupt this process, leading to thick mucus buildup in various organs. It is inherited in an autosomal recessive manner, meaning two copies of the mutated gene are necessary for manifestation of the disease.

Treatment and Management:

While there is currently no cure for CF, treatments aim to improve quality of life and extend survival. Management includes airway clearance techniques, inhaled medications, pancreatic enzyme supplements, and antibiotics for infections. Recent developments include CFTR modulator therapies targeting specific genetic mutations (Heijerman et al., 2021).

As patients age, regular monitoring and multidisciplinary care are essential. Physical therapy, nutritional support, and lung transplantation in severe cases may be necessary. Ongoing research aims to develop gene therapies as potential cures.

Interesting Facts and Support Networks:

Famous individuals with CF include actor and comedian Loretta Swit. Support organizations like the Cystic Fibrosis Foundation provide resources and advocacy for affected individuals and their families.

References:

  • Centers for Disease Control and Prevention (CDC). (2022). Cystic Fibrosis. Retrieved from https://www.cdc.gov
  • Cystic Fibrosis Foundation. (2023). Diagnosis & Testing. Retrieved from https://www.cff.org
  • Heijerman, H. G. M., et al. (2021). Efficacy and safety of the CFTR modulator therapy in cystic fibrosis. The New England Journal of Medicine, 385(12), 1073–1084.
  • National Institutes of Health. (2022). Cystic Fibrosis. https://nih.gov
  • National Organization for Rare Disorders (NORD). (2022). Cystic Fibrosis. https://rarediseases.org

References

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