{"id":43424,"date":"2024-12-30T13:22:55","date_gmt":"2024-12-30T10:22:55","guid":{"rendered":"https:\/\/www.onedose.io\/what-are-genetic-diseases\/"},"modified":"2025-07-17T21:22:45","modified_gmt":"2025-07-17T18:22:45","slug":"what-are-genetic-diseases","status":"publish","type":"post","link":"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/","title":{"rendered":"What are Genetic Diseases?"},"content":{"rendered":"<div class=\"wpb-content-wrapper\">[vc_row pix_particles_check=&#8221;&#8221;][vc_column][vc_column_text css=&#8221;&#8221;]<img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-41998\" src=\"https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-2.jpg\" alt=\"Genetic diseases\" width=\"1500\" height=\"1000\" srcset=\"https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-2.jpg 1500w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-2-300x200.jpg 300w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-2-1024x683.jpg 1024w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-2-768x512.jpg 768w\" sizes=\"auto, (max-width: 1500px) 100vw, 1500px\" \/>\r\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u0130\u00e7indekiler<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-1'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#What_is_a_Genetic_Disease\" >What is a Genetic Disease?<\/a><ul class='ez-toc-list-level-2' ><li class='ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#How_Do_Genetic_Diseases_Occur\" >How Do Genetic Diseases Occur?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#What_are_Genetic_Diseases\" >What are Genetic Diseases?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#Genetic_Diseases_Transmitted_from_Mother_to_Baby\" >Genetic Diseases Transmitted from Mother to Baby:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#Genetic_Diseases_Passed_From_Father_to_Baby\" >Genetic Diseases Passed From Father to Baby<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#What_are_the_Symptoms_of_Genetic_Diseases\" >What are the Symptoms of Genetic Diseases?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#Rare_Genetic_Diseases\" >Rare Genetic Diseases<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#Can_Genetic_Diseases_Be_Treated\" >Can Genetic Diseases Be Treated?<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.onedose.io\/en\/what-are-genetic-diseases\/#What_are_Incurable_Genetic_Diseases\" >What are Incurable Genetic Diseases?<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h1><span class=\"ez-toc-section\" id=\"What_is_a_Genetic_Disease\"><\/span>What is a Genetic Disease?<span class=\"ez-toc-section-end\"><\/span><\/h1>\r\nHealth problems that occur as a result of mutations or abnormalities in genes or chromosomes are called genetic diseases. Human DNA is like an instruction book that dictates how the body will function. Changes (mutations) in these instructions can disrupt the functioning of the body, leading to diseases. Genetic diseases can sometimes be passed from mother or father to child, and sometimes they can occur with new genetic changes.   \r\n<h2><span class=\"ez-toc-section\" id=\"How_Do_Genetic_Diseases_Occur\"><\/span>How Do Genetic Diseases Occur?<span class=\"ez-toc-section-end\"><\/span><\/h2>\r\nThe mechanism of occurrence of genetic diseases is complex and depends on many factors. Some of the root causes: \r\n<ol>\r\n \t<li><strong>Gene Mutations:<\/strong> Changes in genes can interfere with the normal functioning of proteins and cause diseases. For example, diseases such as cystic fibrosis are caused by mutations in a single gene. <\/li>\r\n \t<li><strong>Chromosomal Abnormalities:<\/strong> Changes in the number or structure of chromosomes can lead to genetic diseases. For example, Down syndrome occurs with the presence of an extra 21st chromosome.  <\/li>\r\n \t<li><strong>Polygenic Interactions:<\/strong> Some diseases occur as a result of more than one gene interacting with each other. Diabetes and heart diseases are examples of such diseases. <\/li>\r\n \t<li><strong>Environmental Factors<\/strong><strong>: In individuals with a genetic predisposition, environmental factors (such as smoking, alcohol, eating <strong>habits<\/strong>) can trigger the emergence of the disease.<\/strong><\/li>\r\n<\/ol>\r\n<h2><span class=\"ez-toc-section\" id=\"What_are_Genetic_Diseases\"><\/span>What are Genetic Diseases?<span class=\"ez-toc-section-end\"><\/span><\/h2>\r\nGenetic diseases have a wide spectrum.  <strong>Some of the most common genetic diseases are:<\/strong>\r\n<ul>\r\n \t<li>Cystic Fibrosis<\/li>\r\n \t<li>Duchenne Muscular Dystrophy<\/li>\r\n \t<li>Thalassemia<\/li>\r\n \t<li>Sickle Cell Anemia<\/li>\r\n \t<li>Phenylketonuria (PKU)<\/li>\r\n \t<li>Huntington&#8217;s Disease<\/li>\r\n \t<li>Marfan Syndrome<\/li>\r\n \t<li>Cystinuria<\/li>\r\n \t<li>Familial Mediterranean Fever (FMF)<\/li>\r\n \t<li>Haemophilia<\/li>\r\n<\/ul>\r\n<h3><span class=\"ez-toc-section\" id=\"Genetic_Diseases_Transmitted_from_Mother_to_Baby\"><\/span>Genetic Diseases Transmitted from Mother to Baby:<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\nGenetic diseases that can be passed from mother to baby can be transmitted through mitochondrial DNA or autosomal recessive genes.  <strong>Examples of diseases that can be passed from mother to baby:<\/strong>\r\n<ul>\r\n \t<li>Thalassemia<\/li>\r\n \t<li>Cystic Fibrosis<\/li>\r\n \t<li>Mitochondrial Diseases<\/li>\r\n \t<li>Phenylketonuria<\/li>\r\n \t<li>Familial Hypercholesterolemia<\/li>\r\n<\/ul>\r\n<h3><span class=\"ez-toc-section\" id=\"Genetic_Diseases_Passed_From_Father_to_Baby\"><\/span>Genetic Diseases Passed From Father to Baby<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\nGenetic diseases that are passed from father to baby are usually passed on through the Y chromosome or through autosomal dominant genes.  <strong>Some of the genetic diseases that can be passed from father to baby are:<\/strong>\r\n<ul>\r\n \t<li>Haemophilia<\/li>\r\n \t<li>Duchenne Muscular Dystrophy<\/li>\r\n \t<li>Klinefelter Syndrome<\/li>\r\n \t<li>Huntington&#8217;s Disease<\/li>\r\n \t<li>Familial Polycystic Kidney Disease<\/li>\r\n<\/ul>\r\n<img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-41996\" src=\"https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-1.jpg\" alt=\"What are genetic diseases\" width=\"1500\" height=\"1200\" srcset=\"https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-1.jpg 1500w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-1-300x240.jpg 300w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-1-1024x819.jpg 1024w, https:\/\/www.onedose.io\/wp-content\/uploads\/2025\/01\/genetik-hastaliklar-1-768x614.jpg 768w\" sizes=\"auto, (max-width: 1500px) 100vw, 1500px\" \/>\r\n<h2><span class=\"ez-toc-section\" id=\"What_are_the_Symptoms_of_Genetic_Diseases\"><\/span>What are the Symptoms of Genetic Diseases?<span class=\"ez-toc-section-end\"><\/span><\/h2>\r\nSymptoms of genetic diseases may vary depending on the type of disease. However, common <g id=\"gid_0\">symptoms of genetic diseases<\/g> include: \r\n<ul>\r\n \t<li>Growth retardation<\/li>\r\n \t<li>Mental Development Disorders<\/li>\r\n \t<li>Muscle Weakness or Loss of Coordination<\/li>\r\n \t<li>Abnormal Spots or Deformations on the Skin<\/li>\r\n \t<li>Vision or Hearing Problems<\/li>\r\n \t<li>Constant Fatigue or Exhaustion<\/li>\r\n \t<li>Recurrent Infections<\/li>\r\n \t<li>Organ Dysfunctions<\/li>\r\n<\/ul>\r\n<h2><span class=\"ez-toc-section\" id=\"Rare_Genetic_Diseases\"><\/span>Rare Genetic Diseases<span class=\"ez-toc-section-end\"><\/span><\/h2>\r\nRare genetic diseases, which affect a very small number of people worldwide, can pose serious challenges in terms of diagnosis and treatment. Some rare genetic diseases: \r\n<ul>\r\n \t<li>Progeria (Premature Aging Syndrome)<\/li>\r\n \t<li>Angelman Syndrome<\/li>\r\n \t<li>Gaucher Disease<\/li>\r\n \t<li>Fabry Disease<\/li>\r\n \t<li>Rett Syndrome<\/li>\r\n \t<li>Bloom Syndrome<\/li>\r\n<\/ul>\r\n<h2><span class=\"ez-toc-section\" id=\"Can_Genetic_Diseases_Be_Treated\"><\/span>Can Genetic Diseases Be Treated?<span class=\"ez-toc-section-end\"><\/span><\/h2>\r\nTreatment of genetic diseases depends on the type and severity of the disease. Some genetic diseases are completely curable, while for others, only symptom-relieving treatments can be applied. <g id=\"gid_0\">Some treatment methods for genetic diseases<\/g>: \r\n<ol>\r\n \t<li><strong>Gene Therapy:<\/strong> It is a treatment method that aims to correct or change damaged genes.<\/li>\r\n \t<li><strong>Drug Treatment:<\/strong> Special medications can be used for certain genetic diseases. For example, hydroxyurea therapy is used for sickle cell anemia. <\/li>\r\n \t<li><strong>Physiotherapy and Rehabilitation:<\/strong> It is important in the management of genetic diseases related to the muscle and movement system.<\/li>\r\n \t<li><strong>Diet and Nutrition Programs:<\/strong> Special diets are applied in the treatment of metabolic diseases such as phenylketonuria.<\/li>\r\n \t<li><strong>Symptomatic Treatments:<\/strong> These are treatments to alleviate symptoms such as pain, muscle weakness or organ dysfunctions.<\/li>\r\n<\/ol>\r\n<h3><span class=\"ez-toc-section\" id=\"What_are_Incurable_Genetic_Diseases\"><\/span>What are Incurable Genetic Diseases?<span class=\"ez-toc-section-end\"><\/span><\/h3>\r\nSome genetic diseases cannot be treated today. However, various methods are applied to manage these diseases and improve the quality of life of patients. Some of the genetic diseases for which there is no cure are:  \r\n<ul>\r\n \t<li>Huntington&#8217;s Disease<\/li>\r\n \t<li>Progeria<\/li>\r\n \t<li>Rett Syndrome<\/li>\r\n \t<li>Tay-Sachs Disease<\/li>\r\n \t<li>Leoser-Kalishman Syndrome<\/li>\r\n<\/ul>\r\n[\/vc_column_text][\/vc_column][\/vc_row]<\/div>","protected":false},"excerpt":{"rendered":"Genetic diseases are health problems that occur as a result of mutations or abnormalities in genes or chromosomes. Human DNA is like an instruction book that dictates how the body will function. Changes (mutations) in these instructions can disrupt the functioning of the body, leading to diseases. Genetic diseases can sometimes be passed from mother or father to child, and sometimes they can occur with new genetic changes.   ","protected":false},"author":10,"featured_media":41999,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[29],"tags":[],"class_list":["post-43424","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-blog-en"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v24.0 (Yoast SEO v27.4) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>What are Genetic Diseases? - One Dose<\/title>\n<meta name=\"description\" content=\"What are genetic diseases and how do they occur? 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