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Most focus on severe genetic disorders, including immunodeficiencies, haemophilia, thalassaemia, and cystic fibrosis. Such single gene disorders are good candidates for somatic cell therapy. The complete correction of a genetic disorder or the replacement of multiple genes is not yet possible. Only a few of the trials are in the advanced stages.
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35]
With the discovery of various types of immune-related disorders, there is a need for diversification in prevention and treatment. Developments in the field of gene therapy are being studied to be included in the scope of this treatment, but of course more research is needed to increase the positive results and minimize the negative effects of gene therapy applications. [27]
Sometimes the main or partial cause behind such diseases is genetic. [3] Thus some are clearly hereditary like Huntington's disease. [4] Sometimes the cause is viruses, poisons or other chemicals. The cause may also be unknown. [3] Some degenerative diseases can be cured. In those that can not, it may be possible to alleviate the symptoms. [1]
Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Lysosomal storage disorders. Lipidoses (disorders of lipid storage) Neuronal ceroid lipofuscinoses. Infantile neuronal ceroid lipofuscinosis (INCL, Santavuori disease,) Jansky–Bielschowsky disease (late infantile neuronal ceroid lipofuscinosis) Sphingolipidoses. Niemann–Pick disease; Gaucher disease; Leukodystrophies. Adrenoleukodystrophy
Modifying human embryos to give the CCR5 Δ32 allele protects them from the disease. An other use would be to cure genetic disorders. In the first study published regarding human germline engineering, the researchers attempted to edit the HBB gene which codes for the human β-globin protein. HBB mutations produce β-thalassaemia, which can be ...
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