{"id":85023,"date":"2025-05-08T16:13:08","date_gmt":"2025-05-08T16:13:08","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/85023\/"},"modified":"2025-05-08T16:13:08","modified_gmt":"2025-05-08T16:13:08","slug":"what-families-should-know-about-the-genetic-disorder","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/85023\/","title":{"rendered":"What families should know about the genetic disorder"},"content":{"rendered":"<p class=\"body-text-paragraph\">Imagine facing a condition so rare that fewer than 100 people in the world are known to have it \u2014 a disorder that can disrupt a child\u2019s ability to walk, talk or even eat.<\/p>\n<p class=\"body-text-paragraph\">While there is still much to <a href=\"https:\/\/www.dallasnews.com\/news\/inspired\/2025\/05\/05\/north-texas-girl-to-become-first-patient-to-receive-treatment-for-rare-genetic-disorder\/\" target=\"_self\" rel=\"noopener\" title=\"https:\/\/www.dallasnews.com\/news\/inspired\/2025\/05\/05\/north-texas-girl-to-become-first-patient-to-receive-treatment-for-rare-genetic-disorder\/\">learn about NARS1<\/a>, new research and treatments give families hope. <\/p>\n<p class=\"body-text-paragraph\">Here\u2019s what experts know about this condition, how it\u2019s diagnosed and what the future may hold for those affected.<\/p>\n<p>What is NARS1? <b> <\/b><\/p>\n<p>D-FW Public Health Alerts<\/p>\n<p class=\"dmnc_features-cta-social-cta-social-module__zWZy- mb-4\">Get the latest public health updates.<\/p>\n<p class=\"body-text-paragraph\">NARS1, short for asparagine-tRNA synthetase, is a rare genetic disorder that can disrupt the body\u2019s ability to produce proteins. <\/p>\n<p class=\"body-text-paragraph\">\u201cWhen this gene is not functioning well, our body has trouble making proteins. And so it can cause a spectrum of different disorders,\u201d said Kaitlin Batley, an assistant professor of pediatrics and neurology at UT Southwestern Medical Center.<\/p>\n<p>Who can be affected by it? <\/p>\n<p class=\"body-text-paragraph\">NARS1-related neurologic disorders can affect anyone, according to the <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK612410\/#:~:text=Each%20child%20of%20an%20individual,preimplantation%20genetic%20testing%20are%20possible.\" target=\"_self\" rel=\"noopener\" title=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK612410\/#:~:text=Each%20child%20of%20an%20individual,preimplantation%20genetic%20testing%20are%20possible.\">National Library of Medicine.<\/a> There are fewer than 100 people in the world who are diagnosed with NARS1, according to Batley. <\/p>\n<p class=\"body-text-paragraph\">NARS1 can be passed down in two ways: either when both parents carry the gene change (autosomal recessive) or when just one parent has it (autosomal dominant), according to<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK612410\/#:~:text=Each%20child%20of%20an%20individual,preimplantation%20genetic%20testing%20are%20possible.\" rel=\"noopener\" target=\"_blank\"> the National Library of Medicine.<\/a> <\/p>\n<p>Related:<a class=\"dmnc_features-article-body-embeds-related-story-module__82BFj\" href=\"https:\/\/www.dallasnews.com\/news\/inspired\/2025\/05\/05\/north-texas-girl-to-become-first-patient-to-receive-treatment-for-rare-genetic-disorder\/\" target=\"_blank\" rel=\"noopener\">North Texas girl to become first patient to receive treatment for rare genetic disorder <\/a><\/p>\n<p class=\"body-text-paragraph\">To find out if someone in the family is a carrier, doctors first need to know which NARS1 gene changes are present in the family, according to the National Library of Medicine. <\/p>\n<p>What is the diagnosis for it?<\/p>\n<p class=\"body-text-paragraph\">NARS1 is diagnosed when a person has symptoms that fit the condition and genetic testing shows changes in the NARS1 gene, according to Batley. <\/p>\n<p class=\"body-text-paragraph\">Genetic testing is needed to confirm these changes, according to the National Library of Medicine.<\/p>\n<p>What are the symptoms? <\/p>\n<p class=\"body-text-paragraph\">Batley notes that symptoms of NARS1 can vary widely among patients.<\/p>\n<p class=\"body-text-paragraph\">Common challenges include microcephaly \u2014 smaller heads \u2014 unusually long fingers or toes, seizures, difficulty walking, and delays in motor, speech and cognitive milestones.<\/p>\n<p class=\"body-text-paragraph\">Symptoms typically begin around six months of age but can appear anytime from birth through early childhood, according to The Human Disease Gene initiative.<\/p>\n<p>Is there a treatment for it? <\/p>\n<p class=\"body-text-paragraph\">N-Lorem, a California nonprofit founded by Dr. Stanley Crooke, creates free, personalized genetic treatments for people with ultra-rare diseases. <\/p>\n<p class=\"body-text-paragraph\">The organization is developing the first treatment for NARS1, tailored to <a href=\"https:\/\/www.dallasnews.com\/news\/inspired\/2025\/05\/05\/north-texas-girl-to-become-first-patient-to-receive-treatment-for-rare-genetic-disorder\/\" target=\"_self\" rel=\"noopener\" title=\"https:\/\/www.dallasnews.com\/news\/inspired\/2025\/05\/05\/north-texas-girl-to-become-first-patient-to-receive-treatment-for-rare-genetic-disorder\/\">Marley Mansour<\/a>, a girl from North Texas with a specific mutation that causes her body to produce both healthy and defective proteins.<\/p>\n<p class=\"body-text-paragraph\">The new treatment aims to block the faulty RNA, so only the healthy version works. <\/p>\n<p class=\"body-text-paragraph\">Once this treatment is completed and approved by the FDA, it could pave the way for helping other patients with similar genetic conditions.<\/p>\n","protected":false},"excerpt":{"rendered":"Imagine facing a condition so rare that fewer than 100 people in the world are known to have&hellip;\n","protected":false},"author":2,"featured_media":85024,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[267,1093,70,37624,369,16,15],"class_list":{"0":"post-85023","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-public-health","10":"tag-science","11":"tag-science-and-medicine","12":"tag-texas","13":"tag-uk","14":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114473101107575926","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/85023","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=85023"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/85023\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/85024"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=85023"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=85023"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=85023"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}