Genetic Disorders Write For Us: Genetic diseases occur when a mutation affects genes. Having a mutation does not always mean developing a disease. There are many types of diseases, including monogenic, multifactorial, and chromosomal. Genetic disorders occur once a mutation (a harmful change in a gene, also known as a pathogenic variant) affects genes or when there is not sufficient genetic material. Genes are made of DNA (deoxyribonucleic acid), which covers instructions for how cells function and the characteristics that make us unique.
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What are genetic disorders?
Half of the genes come from each biological parent, and a genetic mutation can be inherited from one or both parents. Sometimes genes change due to problems in DNA (mutations). This can increase the risk of developing a genetic disorder. Some are present at birth, while others develop over time.
Genetic disorders include:
Chromosomal: This type affects the structures that contain genes/DNA in each cell (chromosomes). In these disorders, people have missing or duplicated chromosomal material.
Complex (multifactorial): These disorders outcome from a combination of genetic mutations and other factors, such as exposure to chemicals, diet, certain medications, and tobacco or alcohol use.
Monogenic: This group of disorders occurs due to a mutation in a single gene.
What are common genetic disorders?
There are many types. These include:
- Chromosomal disorders
- Down syndrome (trisomy 21).
- Fragile X syndrome.
- Klinefelter syndrome.
- Trisomy X syndrome.
- Turner syndrome.
- Trisomy 18.
- Trisomy 13.
- Multifactorial disorders
- Late-onset Alzheimer’s disease.
- Arthritis.
- Autism spectrum disorders (mainly).
- Cancer (mainly).
- Coronary artery disease.
- Diabetes.
- Migraine.
- Spina bifida.
- Isolated congenital heart defects.
- Monogenic disorders
- Cystic fibrosis.
- Congenital (born child) deafness.
- Duchenne muscular dystrophy.
- Familial hypercholesterolemia (a type of disease associated with high cholesterol).
- Hemochromatosis (iron overload).
- Neurofibromatosis type 1 (NF1). Sickle cell anemia. Tay-Sachs disease.
Symptoms and Causes
What Causes Genetic Diseases?
To understand the causes of genetic diseases, it’s helpful to learn more about how genes and DNA work. Most of the DNA in genes is responsible for producing proteins. These proteins trigger complex cellular interactions that help maintain health.
When a mutation occurs, it affects the genes’ instructions for making proteins. Proteins may be missing, or the proteins present may not function properly.
Environmental factors (also called mutagens) that can cause a genetic mutation include:
- Exposure to chemicals.
- Exposure to radiation.
- Smoking.
- Exposure to ultraviolet light from the sun.
What are the symptoms of genetic diseases?
Symptoms vary contingent on the type of disease, the organs affected, and its severity. You may experience:
Behavioural changes or problems.
Breathing problems.
- Cognitive impairment, where the brain cannot process information correctly.
- Developmental delays, including problems with speech or social skills. Problems with feeding and digestion, such as difficulty swallowing or inability to process nutrients.
- Abnormalities of the limbs or face, such as missing fingers or cleft lip and palate.
- Movement problems caused by muscle stiffness or weakness.
- Neurological problems, such as seizures or strokes.
- Slow growth or short stature.
- Loss of vision or hearing.
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Related Terms For Genetic Disorders Write for Us
- Genetic Testing
- Karyotyping
- Prenatal Screening
- Newborn Screening
- Carrier Screening
- Gene Sequencing
- Gene Therapy
- Genetic Counselling
- Monogenic Disorders
- Chromosomal Disorders
- Mitochondrial Disorders
- Polygenic Disorders
- Pharmacogenomics
- Enzyme Replacement Therapy
- CRISPR/Cas9 (gene editing technology)
- Gene
- DNA (Deoxyribonucleic Acid)
- Chromosome
- Genome
- Mutation
- Allele
- Genotype
- Phenotype
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