What is a genetic disorder?
A genetic disorder is a disorder that is caused by an abnormality in the human genome. The genome is the entire genetic makeup of an individual, which includes all the hereditary information stored on 23 pairs of chromosomes, as well as the mitochondrial DNA. Genetic disorders are present at birth and can affect physical development or mental abilities. They include single-gene disorders (monogenic) and multifactorial disorders. Genes are units of heredity, passed on from parent to offspring. They encode information that determines the characteristics of living organisms. There are more than 5,000 known genetic disorders that can affect nearly every part of the human body. Genetic disorders may be fatal or not depending on their severity and how much they impair normal function.
Types of genetic disorders
Several types of genetic disorders can affect an individual. While many of these disorders have a specific cause, some may be caused by a combination of factors. In addition, because there is still much we do not know about genetics and how it affects our bodies, new information on the underlying causes and treatments for genetic disorders is continuing to emerge. However, this emerging information may or may not be accurate and up-to-date.
Inherited genetic disorders
An inherited genetic disorder is a condition caused by abnormalities in genes that are passed down to children from their parents. These disorders can be either autosomal dominant, autosomal recessive, or X-linked traits, and may occur in any of the body’s systems.
Acquisition genetic disorders
Acquired genetic disorders are caused by external factors such as infections, toxins, and chronic diseases. However, to be considered an acquired genetic disorder, the disease must have a known cause. Acquired genetic disorders are different from congenital disorders in that they begin developing after birth.
Mitochondrial inheritance genetic disorders
Mitochondrial inheritance is a form of genetic transmission from the DNA contained in the mitochondria. Mitochondrial DNA lies outside the cell nucleus and is only inherited through maternal lineage. … As for human diseases, mitochondrial disorders can be classified as either metabolic or degenerative. Degenerative conditions occur due to mutations that result in faulty genes; they include muscular dystrophy, diabetes, and heart disease. Metabolic disorders are those that result from mutations in nuclear genes and manifest themselves as faulty organs.
Symptoms of genetic disorders
There are 5,000-10,000 known genetic disorders affecting all systems of the body and resulting in a wide variety of symptoms and severity. Genetic disorders can affect one or many-body systems, such as the reproductive system, skeletal system, digestive system, etc. Common symptoms of these diseases include organ failure, cystic fibrosis, muscular dystrophy, sickle cell anemia, Huntington’s disease, Down syndrome, hemophilia A, skin conditions, and birth defects. Many people with genetic disorders do not live past the age of 30.
Causes of Genetic Disorders
Genetic disorders are caused by changes in the DNA sequence of the genome. These modifications can be inherited or occur naturally during the process of reproduction (eggs and sperm) or shortly before conception. The acquired genetic disorders that arise from new mutations after conception are generally not passed on to future generations. The exception is the sex-determining genes, which come in pairs but only one copy is passed on to offspring because they are found on the sex chromosomes (X and Y).
Treatments for Genetic Disorders
New treatments for genetic disorders are being developed every day. For example, a recent study shows significant progress in the development of a gene therapy cure for sickle cell anemia, a disorder that had been thought to be incurable. The progress is due to advances in the understanding of how stem cells work and their potential as therapeutic agents. In 2015 alone, there were 111 clinical trials conducted on new treatments for genetic disorders around the world. Knowing the best treatments for genetic disorders is imperative to parents of children with such disorders. One way that this can be determined is through a genetic counselor, who is a medical professional experienced in helping people work through the many difficult decisions involved in dealing with a child’s disorder. With advanced knowledge of genetics, they can help guide families to make wise decisions about their children’s health and well-being.
Many genetic disorders are prevalent in the world. If you are concerned that your child may have one, or if you suffer from one yourself, you should talk to a doctor about the symptoms and treatments available for these conditions. Genetic disorders can be complex and difficult for patients to manage, as well as their families. To make a correct diagnosis, you must consult with a doctor who has experience treating these conditions. To find a doctor near you who specializes in the treatment of genetic disorders.