Order For This Paper, Essay Help or Similar Assignment Writing Service

Follow and fill the order form to buy essay examples, book instant tutoring or hire scholarly research writers

Posted: March 20th, 2024

Rare genetic diseases essay

Rare genetic diseases
Rare genetic diseases are a group of disorders that affect a small percentage of the population, and they are caused by mutations in genes. These disorders can have a significant impact on individuals and families, as they can cause a wide range of physical, cognitive, and behavioral impairments. The diagnosis and treatment of rare genetic diseases require a thorough understanding of their causes and mechanisms. This essay will discuss rare genetic diseases, their causes, and treatment options.

Causes of Rare Genetic Diseases
Rare genetic diseases are caused by mutations in genes, which can affect the structure or function of proteins that are essential for normal cellular processes. These mutations can occur spontaneously, or they can be inherited from parents who carry the mutated gene. Some genetic mutations can also be caused by environmental factors, such as exposure to radiation or chemicals.

There are many types of rare genetic diseases, and they can affect different parts of the body, including the nervous system, cardiovascular system, and immune system. Some examples of rare genetic diseases include cystic fibrosis, Huntington’s disease, and sickle cell anemia. These disorders can have a wide range of symptoms, such as respiratory problems, cognitive impairments, and chronic pain.

Treatment of Rare Genetic Diseases
The treatment of rare genetic diseases depends on several factors, such as the type of disease, the severity of symptoms, and the age of the patient. In some cases, treatment may involve medication to manage symptoms or prevent complications. For example, patients with sickle cell anemia may be prescribed pain medications or blood transfusions to manage their symptoms.

In other cases, treatment may involve surgery to correct physical abnormalities or remove tumors. For instance, patients with neurofibromatosis may require surgery to remove tumors that are pressing on nerves or other structures. In some cases, gene therapy may also be used to treat rare genetic diseases by correcting or replacing faulty genes.

Importance of Research and Support for Rare Genetic Diseases
Research and support for rare genetic diseases are essential to improve the diagnosis, treatment, and quality of life for individuals and families affected by these disorders. Research can help identify new treatments and interventions for rare genetic diseases, as well as improve our understanding of their causes and mechanisms.

Support for individuals and families affected by rare genetic diseases can also help improve their quality of life and access to resources. Support groups and advocacy organizations can provide information, emotional support, and resources for individuals and families affected by rare genetic diseases. Additionally, government funding and policies can help support research and development of treatments for rare genetic diseases.

Conclusion
In conclusion, rare genetic diseases are a significant public health concern, and they can have a significant impact on individuals and families. These disorders are caused by mutations in genes, which can affect the structure or function of essential proteins. Treatment options for rare genetic diseases depend on the type of disease, the severity of symptoms, and the age of the patient. Research and support for rare genetic diseases are essential to improve the diagnosis, treatment, and quality of life for individuals and families affected by these disorders.

References:

Boycott, K. M., Vanstone, M. R., Bulman, D. E., & MacKenzie, A. E. (2018). Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nature Reviews Genetics, 19(6), 327-340.
Lander, E. S. (2019). Cutting the Gordian helix—The making of genetic medicines. New England Journal of Medicine, 380(21), 1992-1998.
Majewski, J., Schwartzentruber, J., Lalonde, E., Montpetit, A., Jabado, N., & FORGE Canada Consortium. (2019). What can exome sequencing do

Check Price Discount

Homework Samples, Study Bay Notes & Research Topics: »

Why Choose our Custom Writing Services

We prioritize delivering top quality work sought by students.

Top Ace Tutors

The team consists of highly skilled graduate writers—Masters, MSN, PHD and DNP academic writing professionals, each with specialized knowledge in specific subject areas and extensive experience in academic writing. Their expertise to handle homework help orders ensures that every piece of content is well-researched, precise, and tailored to meet the highest academic writing standards. Additionally, their ability to adapt to various writing styles and tones makes them particularly effective in producing content that resonates with diverse college students

0% similarity Index

We are committed to delivering guaranteed plagiarism-free and human-written content. Every piece of work we provide is researched by skilled writers, ensuring it is completely original and free from any AI-generated essays. Before any content reaches you, we scan each final draft using advanced plagiarism checker tools to verify its authenticity and originality. This process is designed to give our valued customers peace of mind, knowing they are receiving content that is both unique and genuinely human-written.

Affordable Pricing

Our custom writing services deliver top-notch quality without breaking the bank, making them a perfect fit for students on a budget. The prices for each essay and assignment are fair, competitive, and stand out when compared to other paper writing services out there. Plus, we’re all about giving you real value—think of it as getting a premium experience without the premium price tag!.

How it works

When you decide to place an order with HomeworkAceTutors, here is what happens:

Complete the Order Form

You will complete our order form, filling in all of the fields and giving us as much instructions detail as possible.

Assignment of Writer

We analyze your order and match it with a custom writer who has the unique qualifications for that subject, and he begins from scratch.

Order in Production and Delivered

You and your writer communicate directly during the process, and, once you receive the final draft, you either approve it or ask for revisions.

Giving us Feedback (and other options)

We want to know how your experience went. You can read other clients’ testimonials too. And among many options, you can choose or recommend to your class mate a favorite essay writer.

Hire Professionals For Each Module's Coursework Assignments!

Fill the order form and find the best writers and tutors for thatg desired grade.

Calculate the price of your order

You will get a personal manager and a discount.
We'll send you the first draft for approval by at
Total price:
$0.00