Rare Hereditary Diseases

The human ordination is continually exposed to varied sources of desoxyribonucleic acid injury. Ineffective protection from this injury results in genetic instability which might ultimately bring about to corporal unwellness, inflicting mutations. Thus our organism commands variety of extremely preserved and effective mechanisms answerable for desoxyribonucleic acid repair. If these repair mechanisms are defective thanks to germline mutations in relevant genes, rare diseases with desoxyribonucleic acid repair deficiencies will arise. Today, a restricted variety of rare hereditary diseases characterised by genetic defects of desoxyribonucleic acid repair mechanisms is thought, comprising neurological disease telangiectasia, Nijmegen breakage syndrome, Chronic inflammatory disorder of the viscus, involves any region of the GI tract from the mouth to the porta. The swelling and inflammation will go deeply into the liner of the viscus. This may be terribly painful and may cause diarrhoea, abdominal pain, nausea and decreased appetency. The inflammatory method tends to be eccentric and segmental, usually with skip areas

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