{"id":4232,"date":"2012-12-13T11:59:14","date_gmt":"2012-12-13T09:59:14","guid":{"rendered":"https:\/\/www.institut-biotherapies.fr\/?page_id=4232"},"modified":"2013-01-22T23:33:55","modified_gmt":"2013-01-22T21:33:55","slug":"genetic-diseases","status":"publish","type":"page","link":"https:\/\/www.institut-biotherapies.fr\/en\/biotherapies\/genetic-diseases-and-rare-diseases\/genetic-diseases\/","title":{"rendered":"Genetic diseases"},"content":{"rendered":"<p>When certain genes are defective, they may cause diseases which may be mild or serious; these are genetic disorders.<\/p>\n<p><a href=\"https:\/\/www.institut-biotherapies.fr\/wp-content\/uploads\/2013\/01\/Exp_transmission_ang.jpg\" rel=\"attachment wp-att-3336\"><img loading=\"lazy\" decoding=\"async\" class=\"alignleft  wp-image-3336\" title=\"Transmission of a genetic disease\" src=\"https:\/\/www.institut-biotherapies.fr\/wp-content\/uploads\/2013\/01\/Exp_transmission_ang.jpg\" alt=\"Transmission of a genetic disease\" width=\"335\" height=\"173\" \/><\/a><\/p>\n<p>Each gene programs the production of a specific protein. If the gene is altered, the production of this protein is disturbed. It may be absent, or non-functional, for example. And it is this dysfunction of the protein which may cause a disease. These are what we call genetic diseases. They may be mild or severe and onset may be at any age. Thus both color-blindness and Duchenne muscular dystrophy are genetic diseases. By definition, all defective genes may be transmitted to our offspring.<\/p>\n<ul>\n<li><strong>In dominant genetic diseases, a single allele (of the pair) is sufficient for the disease to appear<\/strong>. This is the case in Huntington\u2019s disease, for example. In this example, if only one parent carries the defective gene, the children have a 50 percent chance of inheriting it.<\/li>\n<li><strong><strong><a href=\"https:\/\/www.institut-biotherapies.fr\/wp-content\/uploads\/2013\/01\/Exp_Maladie-genetique_ang.jpg\" rel=\"attachment wp-att-3337\"><img loading=\"lazy\" decoding=\"async\" class=\"alignright size-thumbnail wp-image-3337\" title=\"Genetic disease\" src=\"https:\/\/www.institut-biotherapies.fr\/wp-content\/uploads\/2013\/01\/Exp_Maladie-genetique_ang.jpg\" alt=\"Genetic disease\" width=\"325\" height=\"282\" \/><\/a><\/strong><\/strong><strong>In recessive diseases, both alleles must be defective for the disease to appear.<\/strong> If both parents are carriers of the defective gene (in this case they are called healthy carriers, because they do not have the disease themselves), their children have a 1 in 4 chance of inheriting the disease. Examples of this type of inheritance are cystic fibrosis and sickle cell anemia.<\/li>\n<li><strong>The only pair of chromosomes which do not contain the exact same types of information are the sex chromosomes<\/strong>. Females have two X chromosomes and males have one X chromosome and one Y chromosome. When the defective gene is situated on the X chromosome, it may cause an X-linked disease. Duchenne muscular dystrophy is an example of this type of inheritance.<\/li>\n<li><strong>Some genetic diseases are caused by defects in genes found in the mitochondrial DNA; they are transmitted only via the ovum of the mother<\/strong>. The mitochondrion is a small organelle in the interior of the cell which transforms energy from the exterior which the cell can use a little like a miniature nuclear reactor. When it functions incorrectly it can cause a mitochondrial disease. Leber\u2019s optic neuropathy is an example of this.<\/li>\n<\/ul>\n<p>Note: Many diseases which are not totally genetic in origin may be due to a genetic predisposition in combination with environmental factors. The genetic mutation is then one of several risk factors; one can be a carrier of the gene but never develop the disease and vice versa. This is the case, for example, in several forms of breast cancer.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>When certain genes are defective, they may cause diseases which may be mild or serious; these are genetic disorders. Each gene programs the production of a specific protein. If the gene is altered, the production of this protein is disturbed. It may be absent, or non-functional, for example. And it is this dysfunction of the &hellip; <a href=\"https:\/\/www.institut-biotherapies.fr\/en\/biotherapies\/genetic-diseases-and-rare-diseases\/genetic-diseases\/\">[Read more]<\/a><\/p>\n","protected":false},"author":3,"featured_media":0,"parent":4228,"menu_order":20,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-4232","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/pages\/4232","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/comments?post=4232"}],"version-history":[{"count":0,"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/pages\/4232\/revisions"}],"up":[{"embeddable":true,"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/pages\/4228"}],"wp:attachment":[{"href":"https:\/\/www.institut-biotherapies.fr\/en\/wp-json\/wp\/v2\/media?parent=4232"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}