Genetic diseases occur when the DNA in our cells does not copy properly, resulting in some abnormality. Some abnormalities include congenital insensitivity to pain, which does not allow the patient to experience pain, or Moebius syndrome, which prevents an individual from having facial expressions.
Types
Genetic disorders occur in four different types: chromosomal, multifactoral, single-gene and mitochondrial.
Causes
Chromosomal genetic disorders occur when the structure of the chromosome is altered in some way. Multifactoral occurs when more than one gene's DNA is mutated, whereas single-gene disorders occur when a single gene has a DNA mutation. Mitochondrial genetic disorders occur when the DNA in a cell's mitochondria mutates.
Identification
Doctors diagnose specific genetic disorders through gene testing, which involves taking a sample of the patient's tissue and comparing his DNA to a mutated gene sequence. If the computer matches that sequence, the test is positive for that disorder.
Symptoms
Genetic diseases have a variety of physical and mental symptoms. Those who have Down syndrome have intellectual limitations due to an extra copy of the 21st chromosome, whereas people with fibrodysplasia ossificans progressiva have bone growths that occur in place of damaged connective tissue.
Treatments
Treatment of weird genetic diseases includes gene therapy, which helps alter the mutated DNA back to a nonmutated state by splicing in the correct sequence in place of the error. However, not all genetic conditions have a treatment.
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