{"id":38309,"date":"2023-11-25T02:08:06","date_gmt":"2023-11-24T20:38:06","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=38309"},"modified":"2025-04-23T09:48:51","modified_gmt":"2025-04-23T04:18:51","slug":"rare-diseases","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/rare-diseases\/","title":{"rendered":"Rare Diseases &#8211; Challenges Associated with Rare Diseases"},"content":{"rendered":"<h2>What\u2019s in Today\u2019s Article?<\/h2>\n<ul>\n<li>Why in the News?<\/li>\n<li>About Rare Diseases<\/li>\n<li>Challenges Associated with Rare Diseases<\/li>\n<li>National Policy for Rare Diseases, 2021<\/li>\n<li>News Summary<\/li>\n<\/ul>\n<h2>Why in the News?<\/h2>\n<ul>\n<li>Indian drug companies have started manufacturing medicines for at least four conditions, bringing down the cost by up to 100-fold.<\/li>\n<\/ul>\n<h2>About Rare Diseases<\/h2>\n<ul>\n<li>A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.<\/li>\n<li>There are 7,000-8,000 classified rare diseases, but less than 5% have therapies available to treat them.<\/li>\n<li>A condition is considered to be a rare disease if its prevalence is less than one case per 1,000 population.<\/li>\n<li>Around 6% to 8% of the population is estimated to have a rare disease, meaning 8.4 crore to 10 crore Indians are living with these conditions for which treatments either do not exist or therapies are extremely expensive.<\/li>\n<li>While a majority of rare diseases are believed to be genetic, many \u2014 such as some rare cancers and some autoimmune diseases \u2014 are not inherited.<\/li>\n<\/ul>\n<h2>Challenges Associated with Rare Diseases<\/h2>\n<ul>\n<li>The field of rare diseases is complex and heterogeneous as prevention, treatment and management of these diseases has multiple challenges.<\/li>\n<li>Early diagnosis is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.<\/li>\n<li>Relatively little is known about the pathophysiology or the natural history of majority of rare diseases, particularly in the Indian context.<\/li>\n<li>Rare diseases are also difficult to research upon as the patients pool is very small and it often results in inadequate clinical experience.<\/li>\n<li>Despite progress in recent years, there is a need to augment effective and safe treatment for rare diseases.<\/li>\n<li>The cost of treatment of rare diseases is prohibitively expensive. For example, treatment for Spinal Muscular Atrophy (SMA) costs approximately Rs. 16 crore.<\/li>\n<li>Various High Courts and the Supreme Court have also expressed concern about lack of a national policy for rare diseases.<\/li>\n<\/ul>\n<h2>National Policy for Rare Diseases, 2021<\/h2>\n<ul>\n<li>In 2021, the Union Ministry of Health and Family Welfare had approved the National Policy for Rare Diseases.<\/li>\n<li>Key Features of the Policy:\n<ul>\n<li>A provision for financial support up to Rs. 20 lakhs under the umbrella scheme of Rastriya Arogya Nidhi\u00a0is provided for treatment, of those rare diseases that require a one-time treatment.<\/li>\n<li>Objective: To lower the high cost of treatment for rare diseases with increased focus on indigenous research.<\/li>\n<li>Eligibility: Beneficiaries for financial assistance are not be limited to below poverty line (BPL) families, but extended to about 40% of the population, who are eligible under Ayushman Bharat &#8211; Pradhan Mantri Jan Arogya Yojana (AB-PMJAY).<\/li>\n<li>The policy has categorised rare diseases into three groups:\n<ul>\n<li>Diseases amenable to one-time curative treatment;<\/li>\n<li>Diseases requiring long term or lifelong treatment;<\/li>\n<li>Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit.<\/li>\n<\/ul>\n<\/li>\n<li>The policy envisages creation of a national hospital based registry of rare diseases.<\/li>\n<li>The policy focuses on early screening and prevention through primary and secondary health care infrastructure.\n<ul>\n<li>Screening is supported by Nidan Kendras set up by Department of Biotechnology.<\/li>\n<\/ul>\n<\/li>\n<li>Policy also aims to strengthen tertiary health care facilities for prevention and treatment of rare diseases.\n<ul>\n<li>This is ensured by designating eight health facilities as Centre of Excellence (CoE).<\/li>\n<li>These CoEs are provided with one-time financial support of up to Rs. 5 crores for upgradation of diagnostics facilities.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h2>\u00a0News Summary<\/h2>\n<ul>\n<li>The Union government has announced a special initiative for manufacturing four types of homegrown &#8216;Made in India&#8217; drugs for rare diseases for the first time.<\/li>\n<li>The government has prioritised 13 rare diseases and sickle cell disease.<\/li>\n<li>Currently, there are eight types of generic drugs and among them, four types of drugs are available in India and another four types of drugs will be available next year.<\/li>\n<li>The available generic drugs are for Tyrosinemia Type, Gaucher&#8217;s Disease, Wilson&#8217;s Disease and Dravet or Lennox Gastaut Syndrome- seizures.\n<ul>\n<li>Tyrosinemia Type:\n<ul>\n<li>Tyrosinemia type I is a rare autosomal recessive genetic metabolic disorder characterized by lack of the enzyme fumaryl acetoacetate hydrolase (FAH), which is needed for the final break down of the amino acid tyrosine.<\/li>\n<li>The available priority drugs like Nitisinone (capsules) are used for the treatment of Tyrosinemia Type 1 and the cost difference of this drug is Rs. 2 crore per annum if purchased from other countries but an Indian company is manufacturing this in Rs. 2.5 lakh per annum.<\/li>\n<\/ul>\n<\/li>\n<li>Gaucher\u2019s Disease:\n<ul>\n<li>Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver.<\/li>\n<li>The drug Eliglustat recommended for the treatment of Gaucher&#8217;s Disease will cost India Rs. 3-6 lakhs per annum.<\/li>\n<\/ul>\n<\/li>\n<li>Wilson&#8217;s Disease:\n<ul>\n<li>Wilson disease (hepatolenticular degeneration) is a rare, autosomal recessive disorder caused by abnormal copper accumulation in the body particularly involving the brain, liver, and cornea.<\/li>\n<\/ul>\n<\/li>\n<li>Lennox Gastaut Syndrome:\n<ul>\n<li>Lennox-Gastaut syndrome (LGS) is a rare but severe form of childhood epilepsy characterized by a triad of multiple seizure types, characteristic EEG findings, and intellectual impairment.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<li>The government is working on a production-linked incentive scheme for these medicines.<\/li>\n<li>The medicines, at present, are available at the centres of excellence for rare diseases.<\/li>\n<li>In addition, the government is looking at whether making it available at Jan Aushadhi stores will be feasible.<\/li>\n<\/ul>\n<hr \/>\n<h3>Q1) What are Genetic Disorders?<\/h3>\n<p>Genetic disorders occur when a mutation affects your genes. Carrying the mutation doesn&#8217;t always mean you&#8217;ll end up with a disease.<\/p>\n<h3>Q2) What are Non Communicable Diseases?<\/h3>\n<p>The term NCDs refers to a group of conditions that are not mainly caused by an acute infection, result in long-term health consequences and often create a need for long-term treatment and care. These conditions include cancers, cardiovascular disease, diabetes and chronic lung illnesses.<\/p>\n<hr \/>\n<p><strong>Source:<\/strong> <a href=\"https:\/\/indianexpress.com\/article\/india\/major-drop-in-cost-of-drugs-for-4-rare-diseases-after-indian-companies-begin-production-9041430\/\" target=\"_blank\" rel=\"nofollow noopener\"><u>Major drop in cost of drugs for 4 rare diseases after Indian companies begin production<\/u><\/a> | <a href=\"https:\/\/www.hindustantimes.com\/india-news\/in-a-first-made-in-india-drugs-launched-for-rare-diseases-101700845875678.html\" target=\"_blank\" rel=\"nofollow noopener\"><u>HT<\/u><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A rare disease is a health condition of low prevalence that affects a small number of people.<\/p>\n","protected":false},"author":5,"featured_media":38310,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[18],"tags":[],"class_list":{"0":"post-38309","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-upsc-mains-current-affairs","8":"no-featured-image-padding"},"acf":[],"_links":{"self":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/38309","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/users\/5"}],"replies":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/comments?post=38309"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/38309\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/38310"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=38309"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=38309"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=38309"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}