What are Genetic Disorders?

A genetic disorder occurs when the genes are affected by a mutation (also known as a pathogenic variant), or there is not enough genetic material.

Genes are made of DNA (deoxyribonucleic acid), which contains instructions for cells to function properly.
Inheriting a gene mutation from one or both parents is possible, as you receive half of your genes from each biological parent.
Genes can change due to problems with DNA (mutations). This increases your risk of developing genetic disorders.
In some cases, symptoms develop at birth, while in others, they develop later in life.

Types of Genetic Disorders

Genetic disorders can be inherited or arise spontaneously. Learn about their impact and treatments.

Chromosomal

In this case, it affects parts of the cell that house genes and DNA (chromosomes).
People with these disorders lack or have duplicated chromosomal material.

Complex (Multifactorial)

A combination of gene mutations and others causes these diseases.
Chemical exposure, nutrition, some medications, and tobacco or alcohol usage are among them.

Single-gene (Monogenic)

A single gene mutation causes this group of diseases.

What are Common Genetic Disorders Types?

There are three types of genetic disorders;

Chromosomal disorders
Multifactorial disorders
Monogenic disorders

Chromosomal Disorders

Klinefelter syndrome
Down’s syndrome (Trisomy 21)
FragileX syndrome
Turner syndrome
Triple-X syndrome
Trisomy 13
Trisomy 18

Multifactorial Disorders

Arthritis
Late-onset Alzheimer's disease
Cancer
Isolated congenital heart defects
Coronary artery disease
Diabetes
Migraine headache
Spina bifida

Monogenic Disorders

Cystic fibrosis
Duchenne muscular dystrophy
Deafness(congenital)
Hemochromatosis (iron overload)
Familial hypercholesterolemia
Sickle cell disease
Tay-Sachs disease
Neurofibromatosis type 1 (NF1)a

What Causes Genetic Disorders

Knowing more about genes and DNA might help you understand the causes of genetic disorders. Most of the DNA in the genes instructs the body to make proteins.

Activating these proteins initiates complex cell interactions, which are beneficial to our overall health. A mutation affects the instructions that the genes provide to make proteins.

There could be missing proteins, or the ones you have may not work properly. Environmental factors (also known as mutagens) can also cause a genetic mutation. These include:

Smoking
Chemical exposure
Radiation exposure
UV exposure from the sun

What is the Treatment for Genetic Disorders like?

Most genetic disorders are incurable. However, some diseases can be managed with treatments that can slow the growth of the condition or minimise its impact on people’s lives.

The type of treatment for genetic disorders that is appropriate for you is determined by the nature and severity of the disease.

Medications to manage symptoms or to slow abnormal cell growth
Dietary supplements or nutrition counselling
Physical or speech therapy to improve your abilities
Blood transfusion to restore healthy blood cell levels
Surgery to treat complications or repair abnormal structures
Specialised treatments, such as radiation therapy for cancer
Organ transplant is a procedure that replaces a non-functioning organ with one from a healthy donor

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How Can I Prevent a Genetic Disorder?

Genetic counselling and testing might help you understand more about the risks involved. It can also inform you whether your children are at risk of inheriting certain diseases.

Genetic disorders develop when a mutation affects the genes or chromosomes. Some disorders generate symptoms at birth, while others develop over time. Genetic testing can provide information about the chances of developing a genetic disorder.

If you or a loved one have the symptoms of a genetic condition, it is important to seek treatment from an expert specialist.