Overview
A genetic disorder is an inherited medical condition caused by a DNA or chromosomal abnormality or mutation. These mutations can be due to an error in DNA replication or environmental factors, such as radiation and smoke from cigarettes, that change the DNA sequences.
DNA provides the code for proteins. However, when a section of DNA is changed, the coded protein also changes and may not be able to perform its function. This leads to a genetic disorder.
Fun Fact
Out of the 25,000 genes in the human genome, mutations in over 1,800 of them will likely cause genetic disorders.
Signs and Causes
Physical Signs
Webbed fingers and toes
White patches of hair
Ear abnormalities
Missing or extra teeth
Different colored eyes
Causes
A parent with an autosomal dominant disorder
Mother over the age of 35
Family or maternal history of disabilities, mental illness, or chromosomal abnormalities
Diagnosis
Most of the time, genetic disorders are diagnosed through a specific test, which can include examining chromosomes or DNA or testing the blood for certain enzymes that may be abnormal.
The different categories of genetic testing are:
● Predictive Genetic Testing - tells the chances that a healthy person without a family history of a certain disease might develop that disease
● Presymptomatic Genetic Testing - tells if a person with a family history for a genetic disease but no symptoms has a genetic alteration associated with the disease
● Carrier Testing - tells if a person carries one copy of a gene linked to a certain disease
● Prenatal Diagnosis - diagnoses a genetic disease or condition in a developing fetus
● Preimplantation Studies - used only in in-vitro fertilization to diagnose a genetic disease in an embryo before implanting it
● Newborn Screening - used to diagnose certain genetic disorders that can be treated early in life
Treatments
Most people with genetic disorders don’t require treatment and can perform their daily duties like normal. However, in extreme and unusual cases, treatments, like gene therapy, can help manage these conditions.
Gene Therapy - This experimental technique involves changing a person's genes to prevent or treat a disease.
Dietary Changes - For genetic changes that disrupt the production of specific enzymes, treatments include dietary changes or replacement of the missing enzyme.
Specific Approaches - These approaches vary by disorder and are specific to an individual's health needs. For example, genetic heart conditions need to be mended by surgery.
Types of Genetic Disorders
Chromosomal - Chromosomes, or parts of chromosomes, are missing or changed
Single-Gene - Mutations in the DNA affect one single gene
Complex - There are mutations of two or more genes
Examples of Genetic Disorders
Down Syndrome - Chromosome 21 disorder causing developmental delays
Cystic Fibrosis - Inherited disorder that damages lungs and digestive system
Hemophilia - Disorder where blood doesn’t clot as it should
Huntington's Disease - Inherited disorder where nerve cells in the brain break down over time
Sickle Cell Anemia - Disorder that causes blood cells to break down and become misshapen
Muscular Dystrophy - Inherited disorder of gradual muscle weakness
Citations:
https://medlineplus.gov/geneticdisorders.html
https://www.yourgenome.org/facts/what-is-a-genetic-disorder
https://www.childrenshospital.org/conditions-and-treatments/conditions/g/genetic-disorders
https://www.nature.com/articles/nrg1829
https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/genetic-disorder-treatment
https://medlineplus.gov/genetics/understanding/consult/treatment/
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