Druga gimnazija Sarajevo

International Baccalaureate Middle Years Programme

Sciences - Biology

ESSAY

GENETIC DISORDERS

Word Count: 1160

Student: Teacher:

Amar Korajlić Adi Rahmanović

I3 IB

4. March 2024.
Table of Contents

Introduction...............................................................................................................................................1

Understanding Huntington’s................................................................................................................2

Prevalence and diagnosis......................................................................................................................2

Treatment...............................................................................................................................................3

Benefits and limitations of the treatment methods..............................................................................4

Conclusion..................................................................................................................................................5

Bibliography..............................................................................................................................................5
Introduction

For ages, humans have suffered from a wide range of illnesses for which medical

professionals have been researching and creating new treatments on a constant basis. The

complex set of instructions included in the human genome determines the growth and

development of every person on Earth and due to its adaptability and unpredictability creates a

wide range of differences between any two individuals. However, those factors can also lead to

unwanted changes in the body. A genetic disorder is a type of illness caused by these changes to

an individual's DNA. And as mentioned, they can either arise from errors in the replication of

DNA or from environmental factors that modify its structure or destroy it completely. The three

main categories of genetic illnesses are multi-factorial disorders, chromosomal disorders, and

single gene diseases. The disease that will be discussed in this essay belongs to a group of

illnesses called single gene disorders, which are conditions caused by defects in only a single

gene and typically have simple and predictable inheritance patterns. 1 The disease I’m talking

about is Huntington’s, and the defect that is responsible for its occurrence is found in the

identically named, dominant, Huntington gene. In this essay I will provide a deeper analysis of

the disease, its treatments, their benefits and limitations and possible improvements, guided by

the research question of: “What is Huntington’s disease and to what extent can we treat it?” 2

Furthermore, by researching Huntington's through this essay, I will connect its impact to social

factors, such as healthcare disparities which are made worse by the disease disproportionately

1
Cleveland Clinic. “Genetic Disorders: What Are They, Types, Symptoms & Causes.” Cleveland Clinic, 20 Aug.
2021, my.clevelandclinic.org/health/diseases/21751-genetic-disorders. Accessed 4 Mar. 2024.

2
Genetic Alliance, and District of Columbia Department of Health. “Single-Gene Disorders.” Nih.gov, Genetic
Alliance, 17 Feb. 2010, www.ncbi.nlm.nih.gov/books/NBK132154/ Accessed 4 Mar. 2024.

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effecting certain communities and the social hardships that the patient and their family go

through due to the cruel nature of the disease.

Main part

Understanding Huntington’s

Huntington’s disease is an inherited, neurodegenerative disorder caused by the previously

mentioned defect in the name-sharing gene. What this means is that, basically, as the disease sets

on it is characterized by the progressive deterioration of motor ability, cognitive function and

other brain-related psychiatric symptoms. The defect in the gene leads to excessive production of

huntingtin protein which aggregates the brain and causes the issues. The development of the

disease is very unpredictable and the first noticeable symptoms may appear as early as 20 and as

late as 60 years old. The earlier the symptoms appear the harsher and progress faster, especially

if they develop before the age of 20, which we call juvenile Huntington’s. The prognosis after

the onset is usually that the disease is fatal after a period of 20 years from the onset of the first

noticeable symptoms.3

Prevalence and diagnosis

Despite being very uncommon in comparison to other genetic conditions, Huntington's

disease has a significant impact on those who are affected as well as their family.

Geographically, Huntington's disease is more common in some populations than others,

particularly in individuals that descend from Europe.

3
Mayo Clinic. “Huntington’s Disease - Symptoms and Causes.” Mayo Clinic, Mayo Clinic, 14 Apr. 2020,
www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 Accessed 4 Mar.
2024.

Page 2 of 9
 Obviously, since it is a genetic disorder, individuals with parents who were diagnosed

with the disease are at the highest risk. Since the gene that caries the irregularity is dominant if

one of the parents has the disease the chance for their offspring to carry it on is 50%, unaffected

children can't pass the condition on to any children they have. 4 There are also alleged cases

where people were detected with the disease without having the genetic predisposition, but that

is most likely due to the parents never being diagnosed with the disease due to very late onset.

Additionally, you can get tested for the faulty gene through blood analysis before any symptoms

appear but most people choose not to due to personal reasons.5

Treatment

Unfortunately, due to the devastating nature the disease affects the body, modern day

medicine still doesn’t offer any sort of cure for the disease. However significant improvements

have been made with managing the symptoms and improving the short-predicted lifespan of the

patients. Namely, patients are prescribed drugs that limit the unvoluntary movements of the body

like tetrabenazine and deutetrabenazine, antipsychotic drugs such as haloperidol and

fluphenazine and other experimental medications to improve their everyday life and suppress

noticeable physical symptoms. Additionally, most patients, especially female (who are more

prone to the symptoms), attend regular psychotherapy and speech therapy due to a very high

prevalence of psychological disorders that result as a side effect of the disease such as depression

and suicidal thoughts.6

4
NHS. “Huntington’s Disease.” NHS, 29 Mar. 2021, www.nhs.uk/conditions/Huntingtons-disease/ Accessed 3 Mar.
2024.

5
Unknown. “Huntington Disease Epidemiology.” Rare Disease Advisor, www.rarediseaseadvisor.com/disease-info-
pages/huntington-disease-epidemiology/ Accessed 4 Mar. 2024.

6
Mayo Clinic. “Huntington’s Disease - Diagnosis and Treatment - Mayo Clinic.” Mayoclinic.org, Mayo Clinic, 17
May 2022, www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122.
Accessed 4 Mar. 2024.

Page 3 of 9
 Despite the unfortunate fate most current patients affected with Huntington’s will suffer,

improvements in gene therapy and testing of more experimental treatments might result in a

Huntington’s-free future. One of the most promising studies is the still highly experimental

Antisense Oligonucleotides, a type of gene silencers which could potentially block the faulty

genes from creating toxic protein that attacks the brain. Additionally, another experimental

treatment idea is called CRISPR, which if developed could cut out the mutated region of the

gene entirely.78

Benefits and limitations of the treatment methods

While there is no doubt that improvements in the management of Huntington's disease

symptoms have enhanced the quality of life for those who are afflicted, there are still substantial

drawbacks to the available treatment options. The current existing physical methods (drugs) for

treating Huntington’s are very highly effective at doing what they are supposed to, however they

can come with side-effects like psychiatric disorders and cause entirely different issues

themselves sometimes even worse than the ones to begin with. Furthermore, while still in the

early phases of development, investigational drugs do show promise, but have not yet had their

safety and efficacy completely determined. Though helpful, psychotherapy and speech therapy

mostly treat secondary psychological symptoms rather than the fundamental cause of the illness.

Moreover, there is still considerable work ahead of us in terms of overcoming delivery issues,

off-target consequences, and ethical concerns with gene therapy techniques like CRISPR and

Antisense Oligonucleotides. Additionally, there are logistical issues with the accessibility and

long-term viability of these medicines. Therefore, even if there seems to be hope for the
7
Unknown. “Antisense Oligonucleotides - Huntington’s Disease News.” Huntington’s Disease News, 2018,
huntingtonsdiseasenews.com/antisense-oligonucleotides/ Accessed 4 Mar. 2024.

8
Unknown. “CRISPR/Cas9 System - Huntington’s Disease News.” Huntington’s Disease News, 2018,
huntingtonsdiseasenews.com/crispr-cas9-system/ Accessed 4 Mar. 2024.

Page 4 of 9
treatment of Huntington's disease, overcoming these obstacles will be essential to achieving a

future free from the responsibilities of this crippling condition.

Conclusion

In conclusion, the crippling signs and relentless course of Huntington's disease provide a

serious challenge to medical science and impact both the affected individuals and their families.

Although significant progress has been made in controlling its symptoms and improving quality

of life, the lack of a permanent treatment emphasizes the urgency with which more research and

development are needed. The search for ground-breaking treatments like gene silencing and

editing provides hope for a time when Huntington's disease is eradicated, even as we manage the

difficulties of various therapy modalities and contend with their drawbacks.

Bibliography

Cleveland Clinic. “Genetic Disorders: What Are They, Types, Symptoms & Causes.” Cleveland Clinic,

20 Aug. 2021, my.clevelandclinic.org/health/diseases/21751-genetic-disorders Accessed 4 Mar. 2024.

Genetic Alliance, and District of Columbia Department of Health. “Single-Gene Disorders.” Nih.gov,

Genetic Alliance, 17 Feb. 2010, www.ncbi.nlm.nih.gov/books/NBK132154/ Accessed 4 Mar. 2024.

Mayo Clinic. “Huntington’s Disease - Diagnosis and Treatment - Mayo Clinic.” Mayoclinic.org, Mayo

Clinic, 17 May 2022, www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/

drc-20356122. Accessed 4 Mar. 2024.

Mayo Clinic . “Huntington’s Disease - Symptoms and Causes.” Mayo Clinic, Mayo Clinic, 14 Apr. 2020,

www.mayoclinic.org/diseases-conditions/huntingtons-disease/symptoms-causes/syc-20356117 Accessed

4 Mar. 2024.

Page 5 of 9
NHS. “Huntington’s Disease.” NHS, NHS, 29 Mar. 2021, www.nhs.uk/conditions/Huntingtons-disease/

Accessed 4 Mar. 2024.

Unknown. “Antisense Oligonucleotides - Huntington’s Disease News.” Huntington’s Disease News,

2018, huntingtonsdiseasenews.com/antisense-oligonucleotides/ Accessed 4 Mar. 2024.

Unknown. “CRISPR/Cas9 System - Huntington’s Disease News.” Huntington’s Disease News, 2018,

huntingtonsdiseasenews.com/crispr-cas9-system/ Accessed 4 Mar. 2024.

Unknown. “Huntington Disease Epidemiology.” Rare Disease Advisor,

www.rarediseaseadvisor.com/disease-info-pages/huntington-disease-epidemiology/ Accessed 4 Mar.

2024.

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