Rare Genetic Diseases

There are numerous different causes of rare diseases. The larger part is thought to be hereditary, directly caused by changes in genes or chromosomes. In a few cases, genetic changes that cause disease are passed from one generation to the next. In other cases, they occur randomly in a person who is the primary in a family to be diagnosed. These diseases have terrible names. Sometimes they are even nameless. Due to the lack of investment in research, we are still new with the causes or components of most of the rare genetic diseases scientifically known to exist. Chromosome disorders are of two types numerical and structural. In some cases chromosome abnormalities happen during the development of an egg or sperm cell, and other times they happen after conception. Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.

 

  • Metabolic disorder
  • Chromosome abnormality
  • Fabry diseases
  • Turner syndrome
  • Chromosomal duplications
  • Chromosomal deletions

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Rare Genetic Diseases Conference Speakers

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