<?xml version="1.0" encoding="UTF-8"?><rss version="2.0"
	xmlns:content="http://purl.org/rss/1.0/modules/content/"
	xmlns:wfw="http://wellformedweb.org/CommentAPI/"
	xmlns:dc="http://purl.org/dc/elements/1.1/"
	xmlns:atom="http://www.w3.org/2005/Atom"
	xmlns:sy="http://purl.org/rss/1.0/modules/syndication/"
	xmlns:slash="http://purl.org/rss/1.0/modules/slash/"
	>

<channel>
	<title>#RareDisease Archives - Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</title>
	<atom:link href="https://journosnews.com/tag/raredisease/feed/" rel="self" type="application/rss+xml" />
	<link></link>
	<description>Discover Breaking News and Inspiring Stories: Engaging Reports That Keep You Informed and Empowered</description>
	<lastBuildDate>Mon, 15 Jun 2026 08:25:42 +0000</lastBuildDate>
	<language>en-US</language>
	<sy:updatePeriod>
	hourly	</sy:updatePeriod>
	<sy:updateFrequency>
	1	</sy:updateFrequency>
	<generator>https://wordpress.org/?v=7.1.4</generator>

<image>
	<url>https://journosnews.com/wp-content/uploads/2025/10/cropped-Fav-IconjN-32x32.webp</url>
	<title>#RareDisease Archives - Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</title>
	<link></link>
	<width>32</width>
	<height>32</height>
</image> 
	<item>
		<title>What Is ALS? Understanding the Disease That Killed Eric Dane</title>
		<link>https://journosnews.com/what-is-als-disease/</link>
		
		<dc:creator><![CDATA[The Daily Desk]]></dc:creator>
		<pubDate>Sat, 21 Feb 2026 02:31:07 +0000</pubDate>
				<category><![CDATA[General Health Coverage]]></category>
		<category><![CDATA[Health]]></category>
		<category><![CDATA[#ALS]]></category>
		<category><![CDATA[#BrainHealth]]></category>
		<category><![CDATA[#EricDane]]></category>
		<category><![CDATA[#HealthNews]]></category>
		<category><![CDATA[#LouGehrigsDisease]]></category>
		<category><![CDATA[#MedicalResearch]]></category>
		<category><![CDATA[#MotorNeuronDisease]]></category>
		<category><![CDATA[#Neurology]]></category>
		<category><![CDATA[#PublicHealth]]></category>
		<category><![CDATA[#RareDisease]]></category>
		<category><![CDATA[#RespiratoryFailure]]></category>
		<category><![CDATA[#WhatIsALS]]></category>
		<guid isPermaLink="false">https://journosnews.com/?p=22160</guid>

					<description><![CDATA[<p>The death of actor Eric Dane from amyotrophic lateral sclerosis has renewed public attention on a rare but devastating neurological disorder. Best known for his roles on “Grey’s Anatomy” and “Euphoria,” Dane died less than a year after announcing his diagnosis, underscoring the often rapid progression of the disease. ALS, sometimes called Lou Gehrig’s disease, [&#8230;]</p>
<p>The post <a href="https://journosnews.com/what-is-als-disease/">What Is ALS? Understanding the Disease That Killed Eric Dane</a> appeared first on <a href="https://journosnews.com">Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</a>.</p>
]]></description>
										<content:encoded><![CDATA[<article class="text-token-text-primary w-full focus:outline-none [--shadow-height:45px] has-data-writing-block:pointer-events-none has-data-writing-block:-mt-(--shadow-height) has-data-writing-block:pt-(--shadow-height) [&amp;:has([data-writing-block])&gt;*]:pointer-events-auto scroll-mt-(--header-height)" dir="auto" tabindex="-1" data-turn-id="2d5904af-e30b-4650-8448-2d7389d4b03e" data-testid="conversation-turn-1" data-scroll-anchor="false" data-turn="user"></article>
<article class="text-token-text-primary w-full focus:outline-none [--shadow-height:45px] has-data-writing-block:pointer-events-none has-data-writing-block:-mt-(--shadow-height) has-data-writing-block:pt-(--shadow-height) [&amp;:has([data-writing-block])&gt;*]:pointer-events-auto scroll-mt-[calc(var(--header-height)+min(200px,max(70px,20svh)))]" dir="auto" tabindex="-1" data-turn-id="request-WEB:e6a9a70e-a6ee-404c-a128-10447173f125-1" data-testid="conversation-turn-2" data-scroll-anchor="true" data-turn="assistant">
<div class="text-base my-auto mx-auto pb-10 [--thread-content-margin:--spacing(4)] @w-sm/main:[--thread-content-margin:--spacing(6)] @w-lg/main:[--thread-content-margin:--spacing(16)] px-(--thread-content-margin)">
<div class="[--thread-content-max-width:40rem] @w-lg/main:[--thread-content-max-width:48rem] mx-auto max-w-(--thread-content-max-width) flex-1 group/turn-messages focus-visible:outline-hidden relative flex w-full min-w-0 flex-col agent-turn" tabindex="-1">
<div class="flex max-w-full flex-col grow">
<div class="min-h-8 text-message relative flex w-full flex-col items-end gap-2 text-start break-words whitespace-normal [.text-message+&amp;]:mt-1" dir="auto" data-message-author-role="assistant" data-message-id="0ce31f27-27c5-40f8-b6f6-9b8b1cd742de" data-message-model-slug="gpt-5-2">
<div class="flex w-full flex-col gap-1 empty:hidden first:pt-[1px]">
<div class="markdown prose dark:prose-invert w-full wrap-break-word dark markdown-new-styling">
<p data-start="137" data-end="455">The death of actor Eric Dane from amyotrophic lateral sclerosis has renewed public attention on a rare but devastating neurological disorder. Best known for his roles on “Grey’s Anatomy” and “Euphoria,” Dane died less than a year after announcing his diagnosis, underscoring the often rapid progression of the disease.</p>
<p data-start="457" data-end="773">ALS, sometimes called Lou Gehrig’s disease, gradually destroys nerve cells that control voluntary muscle movement. While uncommon, its impact is profound, affecting thousands of families worldwide each year. Health experts say that although awareness has grown in recent decades, effective treatments remain limited.</p>
<h3 data-start="775" data-end="791">What is ALS?</h3>
<p data-start="793" data-end="1077">Amyotrophic lateral sclerosis, or ALS, is a progressive disorder that affects nerve cells in the brain and spinal cord. As these motor neurons deteriorate and die, they lose the ability to send signals to muscles. Over time, muscles weaken, waste away and eventually become paralyzed.</p>
<p data-start="1079" data-end="1358">The condition is also widely known as Lou Gehrig’s disease, named after the Hall of Fame first baseman for the <span class="hover:entity-accent entity-underline inline cursor-pointer align-baseline"><span class="whitespace-normal">New York Yankees</span></span> who was diagnosed in 1939 and died two years later. His case brought early public recognition to the illness in the United States.</p>
<p data-start="1360" data-end="1677">According to the U.S. Centers for Disease Control and Prevention, ALS is rare. Researchers estimated nearly 33,000 cases in the United States in 2022 and project that the number could exceed 36,000 by 2030. The disease is slightly more common in men than in women and most often appears between the ages of 40 and 60.</p>
<p data-start="1679" data-end="1899">The exact cause remains unknown. A small proportion of cases are inherited, but most occur sporadically, meaning there is no clear family history. Scientists continue to study potential genetic and environmental factors.</p>
<h3 data-start="1901" data-end="1933">Signs and progression of ALS</h3>
<p data-start="1935" data-end="2200">Early symptoms of ALS can be subtle and are often mistaken for less serious conditions. The disease may begin with muscle twitching or weakness in one arm or leg. Some people first notice difficulty with fine motor tasks, such as buttoning a shirt or holding a pen.</p>
<p data-start="2202" data-end="2438">As the disease advances, muscles gradually lose strength and coordination. Weakness may spread to other limbs, and cramps or stiffness can develop. Speech can become slurred, swallowing may become difficult, and fatigue often increases.</p>
<p data-start="2440" data-end="2819">Experts at the University of California San Francisco Health note that ALS typically does not affect the senses. Most people retain their ability to think, see, hear, smell, taste and feel touch, even as muscle control declines. This preservation of cognitive and sensory function can make the physical progression of the illness especially challenging for patients and families.</p>
<p data-start="2821" data-end="3053">In later stages, the muscles involved in breathing may become paralyzed. Many patients ultimately die from respiratory failure. Difficulties swallowing can also increase the risk of choking or inhaling food or saliva into the lungs.</p>
<h3 data-start="3055" data-end="3079">How ALS is diagnosed</h3>
<p data-start="3081" data-end="3252">There is no single test that confirms ALS. Diagnosis is based on a combination of clinical evaluation, laboratory testing and imaging studies to rule out other conditions.</p>
<p data-start="3254" data-end="3513">Doctors typically conduct a physical examination and assess muscle strength, coordination and reflexes. Imaging of the brain and spinal cord may be used to exclude other neurological disorders. Blood tests and additional studies can help narrow the diagnosis.</p>
<p data-start="3515" data-end="3769">Certain physical signs may raise suspicion of ALS, including muscle twitching, painful cramps, stiffness causing jerky movements, and changes in fine motor control. Because early symptoms overlap with other neurological diseases, diagnosis can take time.</p>
<h3 data-start="3771" data-end="3808">Treatment options and limitations</h3>
<p data-start="3810" data-end="3941">There is no cure for ALS. Treatment focuses on slowing progression when possible and managing symptoms to maintain quality of life.</p>
<p data-start="3943" data-end="4201">Riluzole, one of the approved medications for ALS, has been shown to modestly extend survival in some patients or delay the need for mechanical breathing support. Other medications may help control symptoms such as muscle cramps, spasticity or excess saliva.</p>
<p data-start="4203" data-end="4568">In 2024, the drug Relyvrio was withdrawn from the U.S. market by its manufacturer after debate over its clinical benefit. The medication’s development had received financial backing linked to the ALS advocacy community, including fundraising efforts that followed the 2014 “ice bucket challenge,” which significantly increased public awareness and research funding.</p>
<p data-start="4570" data-end="4907">As the disease progresses, supportive care becomes central. Patients may require feeding tubes to reduce the risk of choking and ensure adequate nutrition. Assistive devices such as braces, wheelchairs, speech synthesizers and computer-based communication systems can help maintain independence and communication for as long as possible.</p>
<h3 data-start="4909" data-end="4940">Life expectancy and outlook</h3>
<p data-start="4942" data-end="5233">Survival after the onset of ALS varies widely. Many patients live between two and five years after symptoms begin, though some survive longer. Medical experts note that around one in five patients lives more than five years following diagnosis, and a smaller group may live a decade or more.</p>
<p data-start="5235" data-end="5582">Despite advances in supportive care, ALS remains a life-limiting condition. Research efforts continue to focus on understanding its causes and developing more effective therapies. The disease’s unpredictable course and limited treatment options make early diagnosis, multidisciplinary care and ongoing research critical components of the response.</p>
<p data-start="5584" data-end="5866">Dane’s death at 53 highlights both the human toll of ALS and the continuing need for scientific progress. While the condition remains rare, its impact extends far beyond those diagnosed, affecting families, caregivers and communities who confront its progression alongside patients.</p>
</div>
</div>
</div>
</div>
</div>
</div>
</article>
<p><em>Source: AP News &#8211; <a href="https://apnews.com/article/eric-dane-als-lou-gehrigs-disease-fa5eab17cf57163158c9ab6f58826cba">What is ALS, the disease that killed actor Eric Dane?</a></em></p>
<p>The post <a href="https://journosnews.com/what-is-als-disease/">What Is ALS? Understanding the Disease That Killed Eric Dane</a> appeared first on <a href="https://journosnews.com">Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</a>.</p>
]]></content:encoded>
					
		
		
			</item>
		<item>
		<title>Three-Year-Old Thrives After World-First Gene Therapy for Rare Hunter Syndrome</title>
		<link>https://journosnews.com/three-year-old-thrives-after-world-first-gene-therapy-for-rare-hunter-syndrome/</link>
		
		<dc:creator><![CDATA[The Daily Desk]]></dc:creator>
		<pubDate>Mon, 24 Nov 2025 07:00:26 +0000</pubDate>
				<category><![CDATA[Health]]></category>
		<category><![CDATA[Medical Research & Medicine]]></category>
		<category><![CDATA[#ChildHealth]]></category>
		<category><![CDATA[#GeneTherapy]]></category>
		<category><![CDATA[#GeneticResearch]]></category>
		<category><![CDATA[#HunterSyndrome]]></category>
		<category><![CDATA[#InnovativeMedicine]]></category>
		<category><![CDATA[#LifeChangingTreatment]]></category>
		<category><![CDATA[#MedicalBreakthrough]]></category>
		<category><![CDATA[#OliverChu]]></category>
		<category><![CDATA[#PediatricCare]]></category>
		<category><![CDATA[#RareDisease]]></category>
		<category><![CDATA[#StemCellTherapy]]></category>
		<category><![CDATA[#UKResearch]]></category>
		<guid isPermaLink="false">https://journosnews.com/?p=21726</guid>

					<description><![CDATA[<p>World-First Gene Therapy Shows Promising Results in Hunter Syndrome A three-year-old boy from California, Oliver Chu, has amazed medical experts after becoming the first person globally with Hunter syndrome to receive a pioneering gene therapy designed to halt the disease’s progression. The rare, inherited disorder, also known as MPS II, gradually damages the body and [&#8230;]</p>
<p>The post <a href="https://journosnews.com/three-year-old-thrives-after-world-first-gene-therapy-for-rare-hunter-syndrome/">Three-Year-Old Thrives After World-First Gene Therapy for Rare Hunter Syndrome</a> appeared first on <a href="https://journosnews.com">Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</a>.</p>
]]></description>
										<content:encoded><![CDATA[<h3 data-start="222" data-end="295"><strong data-start="222" data-end="293">World-First Gene Therapy Shows Promising Results in Hunter Syndrome</strong></h3>
<p data-start="297" data-end="669">A three-year-old boy from California, Oliver Chu, has amazed medical experts after becoming the first person globally with Hunter syndrome to receive a pioneering gene therapy designed to halt the disease’s progression. The rare, inherited disorder, also known as MPS II, gradually damages the body and brain, often leading to death before the age of 20 in severe cases.</p>
<p data-start="671" data-end="1000">Oliver’s treatment represents a breakthrough: scientists in Manchester modified his own cells to produce an enzyme his body could not previously make. A year after the procedure, he is showing near-normal development, including cognitive and motor improvements, offering hope to families affected by this devastating condition.</p>
<h3 data-start="1002" data-end="1045"><strong data-start="1002" data-end="1043">Hunter Syndrome: Rare and Devastating</strong></h3>
<p data-start="1047" data-end="1573">Hunter syndrome is caused by a genetic mutation that prevents the production of iduronate-2-sulfatase (IDS), an enzyme critical for breaking down large sugar molecules in cells. Without IDS, these molecules accumulate, causing damage to organs, bones, joints, and the nervous system. Symptoms typically appear around age two, including stiff limbs, short stature, delayed speech, and progressive cognitive decline. The condition almost exclusively affects boys, with an incidence of approximately one in 100,000 male births.</p>
<p data-start="1575" data-end="1831">Until now, treatment options were limited. Enzyme replacement therapy, such as Elaprase, can slow some physical effects but does not cross the blood-brain barrier and cannot prevent cognitive decline. Treatments cost around £300,000 per patient annually.</p>
<h3 data-start="1833" data-end="1863"><strong data-start="1833" data-end="1861">The Gene Therapy Process</strong></h3>
<p data-start="1865" data-end="2139">Oliver’s therapy began in December 2024 at the Royal Manchester Children’s Hospital. Doctors removed a portion of his stem cells using a machine designed for precise collection. These cells were then sent to Great Ormond Street Hospital in London for genetic modification.</p>
<p data-start="2141" data-end="2472">In the lab, scientists inserted a functional copy of the IDS gene into a harmless virus, which served as a delivery mechanism. The virus then transferred the gene into Oliver’s stem cells. Importantly, the gene was modified to allow the enzyme to cross the blood-brain barrier, addressing both physical and neurological symptoms.</p>
<p data-start="2474" data-end="2792">By February 2025, the gene-modified stem cells were returned to Manchester for infusion. Oliver received two infusions via a catheter in his chest, each containing approximately 125 million modified stem cells. The procedure was completed in minutes, and Oliver remained calm, watching cartoons during the treatment.</p>
<h3 data-start="2794" data-end="2826"><strong data-start="2794" data-end="2824">Early Signs of Improvement</strong></h3>
<p data-start="2828" data-end="3083">By May 2025, follow-up testing indicated significant progress. Oliver displayed improved mobility, speech, and social engagement. Crucially, he no longer required weekly enzyme infusions, as his body had begun producing the missing IDS enzyme naturally.</p>
<p data-start="3085" data-end="3412">His mother, Jingru, described the changes as “amazing,” while his father, Ricky, emphasized the rapid improvement in cognitive and physical abilities. Oliver’s older brother, Skyler, also diagnosed with Hunter syndrome, continues to receive conventional infusions but is not yet eligible for gene therapy targeting the brain.</p>
<h3 data-start="3414" data-end="3455"><strong data-start="3414" data-end="3453">Ongoing Monitoring and Future Plans</strong></h3>
<p data-start="3457" data-end="3810">Oliver will continue regular check-ups every three months to monitor his enzyme production and neurological development. The clinical trial includes five boys from the US, Europe, and Australia, all of whom will be observed for at least two years. If successful, researchers plan to partner with biotech companies to make the therapy widely available.</p>
<p data-start="3812" data-end="4052">Professor Simon Jones, co-leader of the trial, stressed cautious optimism: “Things are as good as they could be at this point, but we need to monitor carefully. We are encouraged by his progress in learning, mobility, and overall health.”</p>
<h3 data-start="4054" data-end="4094"><strong data-start="4054" data-end="4092">A Trial That Nearly Never Happened</strong></h3>
<p data-start="4096" data-end="4410">The gene therapy originated from more than 15 years of research led by Professor Brian Bigger at the University of Manchester. Initially, a partnership with US biotech Avrobio faced setbacks due to poor results in a separate gene therapy trial and funding shortages, putting the first-in-human trial in jeopardy.</p>
<p data-start="4412" data-end="4671">British charity LifeArc intervened with £2.5 million in funding, allowing the trial to proceed. Dr Sam Barrell, CEO of LifeArc, highlighted the challenges faced by patients with rare diseases, noting that 95% of such conditions have no effective treatments.</p>
<h3 data-start="4673" data-end="4724"><strong data-start="4673" data-end="4722">Hope for Families Affected by Hunter Syndrome</strong></h3>
<p data-start="4726" data-end="4980">For the Chu family, the successful gene therapy has transformed daily life. Oliver now produces the missing enzyme, enjoys improved mobility, and engages fully with his surroundings. His parents hope Skyler may one day benefit from a similar treatment.</p>
<p data-start="4982" data-end="5146">Ricky Chu reflected on the journey: “I would walk to the end of the earth, backwards, forwards, upside down, barefoot, to make sure my kids have a better future.”</p>
<p data-start="5148" data-end="5477">The trial represents a landmark achievement in gene therapy, with potential applications for other rare genetic disorders, including MPS I (Hurler syndrome) and MPS III (Sanfilippo syndrome). Oliver’s story underscores the promise of genetic medicine in changing the outlook for children with previously untreatable conditions.</p>
<p><em>Source: BBC – <a href="https://www.bbc.com/news/articles/c5y0y56x6veo">Boy with rare condition amazes doctors after world-first gene therapy</a></em></p>
<p>The post <a href="https://journosnews.com/three-year-old-thrives-after-world-first-gene-therapy-for-rare-hunter-syndrome/">Three-Year-Old Thrives After World-First Gene Therapy for Rare Hunter Syndrome</a> appeared first on <a href="https://journosnews.com">Journos News - Breaking News, World News, Top Stories, Todays Headlines and Flash Reports</a>.</p>
]]></content:encoded>
					
		
		
			</item>
	</channel>
</rss>
