genetic disorder
About genetic diseases
Diseases caused by alterations in genetic material, including chromosomal aberrations and invisible mutations at the chromosome level, are collectively called genetic diseases. Depending on the process of alteration of the genetic material involved, genetic diseases can be classified into three main categories
Chromosome Disorders or Chromosome Syndromes
Alterations in the genetic material are seen at the chromosome level, either numerically or structurally. Because chromosome disorders involve a large number of genes, the symptoms are usually severe, involving aberrations and functional changes in multiple organs and systems.
Single Gene Disease
Single Gene Disease is a disease caused by mutations in a pair of alleles, a dominant gene and a recessive gene, respectively. A dominant gene is a gene that causes disease when one of the alleles is mutated. A recessive gene is a gene that can cause disease only if both alleles are mutated.
Polygenic Disease
This type of disease involves the action of multiple genes, unlike single gene disease, these genes do not have dominant and recessive relationship, each gene only has a micro-effect cumulative effect, so the same disease in different people due to the number of causative genes involved, the severity of their disease, the risk of recurrence can be significantly different, and the performance of the family aggregation phenomenon, such as the cleft lip has a mild and severe, and some people are also accompanied by For example, cleft lip can be mild or severe, and some people also have cleft palate.
It is worth noting that polygenic diseases are also known as multifactorial diseases because of the influence of environmental factors in addition to genetic factors. Many common diseases such as asthma, cleft lip, schizophrenia, anencephaly, hypertension, congenital cardiovascular disease, epilepsy, etc. are polygenic diseases.
Treatment Options
We utilise the PGD technology of IVF to help us screen embryos for diseases to reduce the risk of inheriting genetic disorders in the offspring. Screenings include cystic fibrosis, X chromosome fragility, myotonic dystrophy and conditions such as thalassaemia and thalassaemia.
