Understanding Genetic Disorders | Identification Methods

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What is a genetic disorder?

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality.

How many types of genetic disorders are there?

There are four different types of genetic disorders (inherited) and include: Single gene inheritance is also called Mendelian or monogenetic inheritance. Changes or mutations that occur in the DNA sequence of a single gene cause this type of inheritance. There are thousands of known single-gene disorders.

How are genetic disorders diagnosed?

Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood.

What causes genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.

What are the different types of genetic disorders?

Genetic disorders can be: Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material. Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors.

How do you know if you have a genetic disease?

Additionally, family history of common adult conditions (heart disease, cancer, dementia) that occur in two or more relatives at relatively young ages may also suggest a genetic predisposition. Other clinical symptoms that are suggestive of a genetic disease include developmental delay/mental retardation and congenital abnormalities.

What Is Identifying Genetic Disorders

1. https://my.clevelandclinic.org/health/diseases/21751-genetic-disorders
2. https://www.medicinenet.com/genetic_disease/article.htm
3. https://www.medicalnewstoday.com/articles/genetic-disorders
4. https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders
5. https://patienteducation.asgct.org/gene-therapy-101/patient-journey/identifying-a-genetic-disease
6. https://bio.libretexts.org/Bookshelves/Human_Biology/Book%3A_Human_Biology_(Wakim_and_Grewal)/08%3A_Inheritance/8.6%3A_Genetic_Disorders
7. https://www.nhs.uk/conditions/genetic-and-genomic-testing/
8. https://en.wikipedia.org/wiki/Genetic_disorder
9. https://medlineplus.gov/geneticdisorders.html
10. https://www.britannica.com/science/human-genetic-disease

Identifying Genetic Disorders Information

1. https://geneticalliance.org.uk/support-and-information/about-genetics/
2. https://www.ncbi.nlm.nih.gov/books/NBK132142/
3. https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/overview-of-chromosome-and-gene-disorders