Genetic disorder is the term which refers to the problem that is inherited from birth. The disorder or problem is transferred to the gene in the next childbirth. This is genetic disorders or diseases which cannot be prevented / eliminated easily from the body. For the transfer through genes, the diseases are called hereditary. From the parents the genes of disorders are transmitted to the new born babies. Sometimes cancer may be genetically transmitted to the new gene line. Genetic diseases are not caused by environment or infectious diseases.
Types of genetic diseases
There are various types of genetic disease which may be transmitted through genes to the next generation. Cystic fibrosis, Down syndrome, Hemopphilia, Prader willie Syndrome, Klinefelter syndrome are some of the genetic diseases which are transferred from the parents to babies through genes. Otherwise, it may happen by mutation of genes.
Genetic disorders or the sequences in genes may occur by the mutation of one gene. The disorder also may occur by multiple genes or mutation by combination of genes. It may be simply stated that the multiple disorders may occur due to environmental conditions or damage of chromosomes. It may also be explained that disorder may occur due to number of chromosomes, structure of total chromosomes/ Chromosomes are the structures which carry genes.
How the genetic disorders can be prevented / treated
Enzyme replacement therapy
Genetic disorders may happen through change sin genes and these are present in every cell. For this reason, genetic disorders may affect the systems in the body. Though it is very difficult to treat the genetic disorders, still there are some approaches which can make some positive steps for treatment of the associated symptoms. The child born with genetic disorders of metabolism can be treated with some dietary changes. The particular enzyme may be absent from the system and the inclusion of the enzyme through diet can manage the condition. Enzyme therapy can manage the absence of the enzyme and can enhance the metabolism and other parts of the digestive system. The enzyme replacement therapy can mange present situations and also can mange future complications.
The other genetic disorders may vary from person to person and the treatment approach also may vary for the specific condition. If a baby is born with some specific defects which may be of genetic disorders, then the treatment can be managed with specific designs. In the case heart defect in new born, heart transplantation may be carried out by the doctors. Here the approach of treatment is designed by the doctors.
Some genetic disorders are associated with some future problems of certain forms of cancer. Certain forms of breast cancer are the most common which may happen due to the mutation of BRC1 and BRC2 genes. The management of the future cancer may be done by surgery of removal of the specific tissue responsible for future cancer. The concept may include the close monitoring of the high risk tissue and ultimately may be operated over the high risk tissue.
In some genetic disorders, childbirth may be a problem. Embryo may be affected or miscarriage may happen repeatedly. If the child birth happens also, the infants are affected and it may be dead or still. Such cases with severe genetic disorders, healthcare professionals may take several supportive cares to the individual like breathing assistance with mechanical way.
In most cases, the genetic mutation cannot be changed and the mutation cannot be reversed or the genetic mutation cannot be altered. But, there are some cases which may be treated by gene therapy. Though, it is tough process, still the doctors are trying to provide gene therapy to treat the conditions. The techniques of treatment involve the changing the gene to the perfect order to treat the disease. Still, some researchers are going on under clinical study with improvement of genetic disorders through genetic therapy. Few genetic disorders have been treated with gene therapy.
If child birth happens with genetic disorders of cystic fibrosis, then it is really inescapable. The children have to pass their childhood with disability. But recent researches have revealed some positive role on the issue. Researchers have found out some therapy to treat and to make some solutions for prevention of the diseases. Some doctors suggested that therapies or medications may prevent the diseases and the function of the modified genes.
Genetic researches have revealed that 13 adults are extremely healthy though they had terrible diseases with genetic disorders out of survey of half million people. One study has shown the data that the genetic mutations ere not much and these are merely 0.5 percent. So, 13 people escaped from the genetic disorders and led healthy life. These 13 heroes led the healthy adulthood but they had linked with 8 severe disorders like cystic fibrosis and so on.