There are more than 6,000 different rare diseases known today in the world. 80% of rare diseases are genetic in origin, and thus are present throughout a person's life, even if symptoms do not immediately appear. But many people are not aware exactly what a genetic disorder is. With that in mind, we have listed a few key facts that everyone should know about genetic disorders.
1. What Is A Genetic Disorder?
It is also a disease, caused by a mutation in an individual's DNA (Deoxyribonucleic Acid) normal sequence or damage to chromosomes.
2. How Does A DNA Mutation Happen?
Our DNA has the code for making proteins which are inevitable for human body functioning. The changes in the DNA happen due to an error in DNA replication in which a cell makes an identical copy of its genome (complete set of human genes) before it divides and due to environmental factors such as cigarette smoking and exposure to radiation. When a part of DNA is altered for these reasons, the proteins can not carry out their normal functions. These mutations can have little or no effect or may affect the biology of cells, which leads to a 'genetic disorder'.
3. Types Of Genetic Disorders
Single Gene or Monogenic Disorder - Disorders caused by defects in one particular gene. For example, Huntington's disease, Cystic fibrosis, Sickle cell disease, Muscular dystrophy.
Chromosome Disorders - Disorders caused by changes in the number or structure of the chromosomes. For example, Down's syndrome, Prader-Willi syndrome. In Down's syndrome, individuals have extra chromosome instead of having two copies of chromosome 21, which means the changes to chromosomes also lead to genetic disorders while many genetic disorders are caused by changes in single gene.
Multifactorial Inheritance Disorders - Disorders caused by changes in multiple genes due to environmental and lifestyle factors such as diet or cigarette smoke and small inherited variations in genes. For example, cancer, diabetes, heart disease.
4. Chances Of Getting Genetic Disorders
Once a person is identified with a genetic disorder, doctors counsel the family members of the person about the chance of getting the disorder. If a mother and father have a 1 in 4 chance of their child inheriting a genetic disorder then it also applies to each pregnancy and will be same for each child they have.
5. Rarely, due to a spontaneous change in the DNA sequence of a gene naturally, genetic disorders can occur in a child. Here, the altered gene has not been inherited from either father or mother.
6. In the genetic condition Duchenne Muscular Dystrophy, men are affected whilst women are unaffected carriers, which means some genetic conditions affect both genders differently.
7. Some genetic disorders are apparent at birth. But others are diagnosed at different stages throughout childhood and sometimes into adulthood. Different genetic disorders with their unique symptoms affect an individual's mental and physical health differently. A few of those most common conditions are Cystic Fibrosis, Down's Syndrome, Neurofibromatosis and Sickle Cell Anaemia.
8. Though the genetic technology has been advancing, we still do not know the genetic cause of every genetic disorder. Treatments and interventions are available to ease the symptoms of a genetic disorder though it can not be cured. Huge research is going on to improve treatments and new therapies for the future.
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