A Focus on Rare Diseases In honor of Rare Disease Awareness Day that occurs the last day of February each year, UVA medical students organized a Rare Disease Day Panel to provide interested students an opportunity to learn more about how rare diseases impact patients and the ways physicians ... A Focus on Rare Diseases In honor of Rare Disease Awareness Day that occurs the last day of February each year, UVA medical students organized a Rare Disease Day Panel to provide interested students an opportunity to learn more about how rare diseases impact patients and the ways physicians approach treatment. A key theme was the importance of recognizing the unique challenges that families facing rare diseases encounter, particularly when it comes to limited treatment options and the overall lack of general medical knowledge about their condition. When a patient is only 1 in 600 individuals with a medical condition, resources are often scarce. A memorable moment at the event included a discussion with a patient family who has experienced a rare disease diagnosis. The family talked about how an intern ordered a test in the NICU that dramatically altered their baby’s disease course. From there, they shared candidly how they have navigated a challenging diagnosis emotionally, financially, and socially with friends and family. Events highlighting rare diseases, like our Rare Disease Day Panel, bring awareness and offer collaboration between medical providers, researchers, and students. Most importantly, it serves as a platform for patients and families to advocate for themselves and share their personal stories; they know their rare disease best.

Original title: “Medical Students Host Rare Disease Day Panel Discussion - Education - Medicine in Motion News”

Information for clinicians on diagnosing and treating yersiniosis.

Original title: “Clinical Overview of Yersiniosis”

Provides information on the types of heat-related illnesses that occur working in hot environments.

Original title: “Heat-related Illnesses”

Every February, the rare disease community comes together with a shared purpose: to raise awareness, inspire action, and amplify the [...]Read More... from RARE DISEASE DAY 2026 Through awareness and advocacy, Rare Disease Day works to create visibility for these challenges while pushing progress forward. Throughout February 2026, A1F is proud to collaborate with RareDiseaseDay.org and the National Organization for Rare Disorders (NORD) to raise awareness of Alpha-1 and support the broader rare disease community. Patients, caregivers, clinicians, researchers, and advocates are encouraged to take part by sharing educational resources, engaging in events, and telling their personal Alpha-1 stories. The event featured panel discussions, rare disease stories, scientific posters, exhibits, and an art exhibition, highlighting both the human and scientific dimensions of rare disease research. Thank you to Alpha-1 patient advocate, Dan Grimm for representing the Alpha-1 community at the event. On February 24th, the National Organization for Rare Disorders (NORD) hosted a public congressional briefing at the U.S. Capitol Visitor Center titled Patient Advocacy Driving Innovation for People Living with Rare Diseases, underscoring the critical role of advocacy and federal policy in advancing research and treatment. For the Alpha-1 Foundation (A1F), Rare Disease Day is not just a single day of recognition, but a month-long commitment to education, advocacy, and connection, ensuring that Alpha-1 Antitrypsin Deficiency (Alpha-1) remains part of the global rare disease conversation. On February 21st, Rare Disease Day was celebrated at the A1F’s Austin Education Day, where Alphas, family members, caregivers, friends, and healthcare providers gathered to learn about the latest Alpha-1 research, lung and liver disease, and practical strategies for living well with Alpha-1. On February 23rd, the U.S. Food and Drug Administration hosted a virtual Rare Disease Day public meeting focused on engaging patients and communities to advance rare disease medical product development and regulation. That same week, from February 23rd through 27th, the EveryLife Foundation for Rare Diseases convened advocates from across the country for Rare Disease Week, empowering participants to engage directly with policymakers and advocate for meaningful change.

Original title: “RARE DISEASE DAY 2026 - Alpha-1 Foundation”

PARAMUS, NJ - Polaryx Therapeutics , a clinical-stage biotechnology company developing novel, disease-modifying therapies for rare, pediatric lysosomal storage disorders , joins the global rare... The National Organization for Rare Diseases (NORD), a rare disease patient advocacy organization, notes that a disease is considered rare when it affects fewer than 1 in 2,000 people globally, with approximately 70% of these diseases starting in childhood. There are more than 6,000 rare diseases identified, 72% of which are genetically inherited. 'On Rare Disease Day, Polaryx proudly stands alongside the rare disease community - patients, families, caregivers, researchers, and advocacy partners to underscore the urgent need for new and transformative treatments,' said Polaryx Therapeutics (Nasdaq: PLYX), a clinical-stage biotechnology company developing novel, disease-modifying therapies for rare, pediatric lysosomal storage disorders ('LSDs'), joins the global rare disease community in raising awareness and supporting patients, families, caregivers, and healthcare providers. Rare Disease Day, observed annually on the last day of February, serves as an international campaign to raise awareness about the challenges faced by individuals and families living with rare diseases. ... SOTERIA is a Phase 2, open-label, single arm trial intended to assess the safety, tolerability, and clinical activity of Polaryx's lead drug candidate, PLX-200, in CLN2, CLN3, Krabbe disease, and Sandhoff disease, four different LSDs whose patient populations Polaryx believes represent approximately one quarter of the LSD population.

Original title: “Polaryx Therapeutics Marks Rare Disease Day, Reaffirming Commitment to Patients with Rare Pediatric Lysosomal Storage Disorders | MarketScreener India”

One of the two new members of the CDC's Advisory Committee on Immunization Practices questioned the safety of COVID-19 vaccines before the Texas Senate in 2021.

Original title: “RFK Jr. Appoints 2 New Advisors to CDC Vaccine Panel Ahead of March Meeting”

Just after my COVID, I developed a fast-growing, extremely painful nodule under my skin. It was surgically removed. The biopsy was inconclusive. Then more nodules… Continue reading 🦓 Rare Disease Day – A Journey I Never Planned Cutaneous Rosai-Dorfman Disease – a very rare condition with only around 20-30 reported cases in India and roughly 220 cases worldwide. This Rare Disease Day, I just want to say…if you’re still searching for answers, don’t give up. Keep pushing.

Original title: “🦓 Rare Disease Day – A Journey I Never Planned - Rare Disease Day 2026”

I was diagnosed at the age of 12, after years of ER visits, being considered disabled at the age of 15, and after 15 years… Continue reading Surviving Medical Neglect About 2 months later I was diagnosed with another immune disorder (Hashimoto’s disease), Rheumatoid arthritis, Fibromyalgia, 4 bulging disks, degenerative disc disease, Ehlers-Danlos hypermobility, more determination to my C spine, and uncontrollable Postural Orthostatic Tachycardia Syndrome (POTS). I get IV meds every 6 weeks that cost $2,000 each infusion, nerve pain every day, 16 different medications every month, but I’m not disabled enough for disability. My quality of life is horrible. I have lost my hope of ever getting all of my disorders/diseases under control.

Original title: “Surviving Medical Neglect - Rare Disease Day 2026”

A Colorado family is calling for change and sharing their struggle after a clinical trial their son relied on suddenly ended. This week marks Rare Disease Week, a time when families across the country are sharing their struggles with access to treatments and clinical trials, and their hopes for change, with lawmakers and federal health officials. Colorado family pushes for change after rare disease clinical trial abruptly ends 04:23 Caleb was eventually diagnosed with fibrodysplasia ossificans progressiva, or FOP, an extremely rare genetic disorder in which muscles, connective tissues and ligaments are gradually replaced by bone. There is no cure and no FDA‑approved treatment. That hope was shaken in December when the drug's manufacturer announced it was ending the trial after failing to meet a required endpoint of reducing bone growth. "The message said, 'Speak with your physician for other options,'" Stephanie Burgess said. "For which there aren't any." Now, the Burgess family is sharing its experience not just for Caleb, but for others living with rare diseases.

Original title: “Colorado family pushes for change after rare disease clinical trial abruptly ends - CBS Colorado”

A LinkedIn post from Forge Biologics highlights the company’s alignment with Rare Disease Day and its focus on rare genetic conditions affecting more than 400 milli... A LinkedIn post from Forge Biologics highlights the company’s alignment with Rare Disease Day and its focus on rare genetic conditions affecting more than 400 million people worldwide. The post emphasizes the organization’s mission-driven culture, noting a team of more than 450 employees working on gene therapies for patients with limited or no treatment options. The company’s LinkedIn post suggests an emphasis on end-to-end capabilities that extend beyond manufacturing, including collaboration with innovators to accelerate development and enable access to gene therapies. For investors, this focus on rare diseases and advanced therapies may indicate a strategy oriented toward high unmet medical need markets, which can support premium pricing and partnership opportunities but also entail elevated regulatory and development risk. The post also underscores Forge Biologics’ role as a potential ecosystem partner in gene therapy, positioning its platform and workforce as key assets in turning “scientific possibility into real impact.” This positioning could enhance the company’s attractiveness to biotech clients and strategic collaborators, potentially supporting revenue visibility in contract development and manufacturing while reinforcing its profile within the competitive gene therapy landscape.

Original title: “Forge Biologics Emphasizes Gene Therapy Focus on Rare Diseases - TipRanks.com”

Has living with the uncertainty of this rare syndrome changed her? She talks about how some people say having cancer is a blessing, which she understands. “I think I am a strong introverted woman who has the ability to be extroverted when needed, I can speak for those voices who need my help, I can hold a person’s hand through their last breath, I can sit at a table to discuss the needs of patients,” she says of the support and advocacy ... Has living with the uncertainty of this rare syndrome changed her? She talks about how some people say having cancer is a blessing, which she understands. “I think I am a strong introverted woman who has the ability to be extroverted when needed, I can speak for those voices who need my help, I can hold a person’s hand through their last breath, I can sit at a table to discuss the needs of patients,” she says of the support and advocacy she’s devoted her days to. Sign up for patient and caregiver stories, expert insights, and advocacy for better access—delivered straight to your inbox. Anne Marie is a former realtor who is busier than ever in her retirement working with the organization. “There’s always something new to learn with this. I learn from my patients, from the doctors. That’s all good because that way it keeps me ahead of what’s out there.” · Rare Disease Day on Feb. You’re always having to explain yourself, your symptoms and what the disease actually means when you’re asked—or you try to avoid questions about your health. You might be confronted by a sheer lack of empathy, only out of ignorance. It’s not because people beyond your inner circle don’t care; they just don’t understand or want to take time to listen and learn. Rare diseases typically don’t make headlines or receive significant research dollars simply because they are rare and touch very few people.

Original title: “Rare Disease Day 2026: Finding purpose and community despite the odds | Healthing.ca”

Systematically collected data enable ... clinical trial inclusion. As clinicians, our commitment to rare disease is both scientific and human. We have seen children who, with timely treatment, return to school and lead normal lives. We have also witnessed preventable morbidity due to delayed diagnosis or lack of access to therapy... Systematically collected data enable accurate estimation of disease prevalence, identification of diagnostic delays, benchmarking of outcomes across centers, evaluation of cost-effectiveness, advocacy for inclusion in national funding schemes, and meaningful engagement with pharmaceutical partners for clinical trial inclusion. As clinicians, our commitment to rare disease is both scientific and human. We have seen children who, with timely treatment, return to school and lead normal lives. We have also witnessed preventable morbidity due to delayed diagnosis or lack of access to therapy. International Rare Disease Day on February 28 raises awareness about the challenges faced by millions affected by rare disorders. Despite their low prevalence, these diseases collectively impact many, often leading to delayed diagnosis and inadequate treatment. With growing indigenous research capacity, manufacturing infrastructure, and clinical expertise, India is well positioned to develop and deliver affordable, high-quality cellular and gene-based therapies. In the coming years, this has the potential not only to transform care for patients within the country, but also to provide cost-effective solutions for rare diseases to the rest of the world. Access to treatment has also improved. With an increasing number of novel therapies in the development pipeline and growing interest from the pharmaceutical industry in rare diseases, there is renewed hope for more effective and accessible treatments for orphan disorders. Sustained collaboration between clinicians, researchers, industry, and policymakers will be essential to ensure that these advances translate into equitable patient care.

Original title: “International Rare Disease Day: Raising Awareness and Advocating for Equitable Treatment”

A LinkedIn post from Cirsium Biosciences highlights the global scale of rare diseases, citing an estimated 300 million people affected worldwide. The post frames ra... The company’s LinkedIn post underscores the growing role of AAV gene therapies in expanding treatment options for certain rare conditions, attributing this progress to sustained scientific work across the field. The content may imply that Cirsium is positioning itself within a niche of gene therapy focused on access and implementation, which could influence future partnership opportunities, reimbursement strategies, and valuation assumptions if the company can translate this mission into commercializable platforms or services. It also notes Cirsium Biosciences’ mission to improve global access to life-saving gene therapies, suggesting a strategic focus on scalable delivery and accessibility rather than solely on discovery. For investors, the emphasis on AAV gene therapies and global access points to potential alignment with long-term demand in rare disease therapeutics and health system cost-effectiveness goals.

Original title: “Cirsium Biosciences Emphasizes Rare Disease Burden and AAV Gene Therapy Focus - TipRanks.com”

Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. ROCK HILL, S.C. — Just days after her son was born, Julia Friar learned he had galactosemia, a rare genetic disorder that can be life-threatening. Three years later, the Rock Hill mother is channeling that fear into advocacy, working to raise awareness and funding for a cure. Three-year-old Asher is just like any other toddler. “It was terrifying,” said Julia Friar, his mother. ALSO READ: Local family of boy with rare disease raises awareness, spreads hope “I think about day 6 or 7 is when we started saying, ‘OK, he’s still really yellow,’” Julia Friar said. Asher showed symptoms of jaundice, which is a tell-tale sign of galactosemia, a very rare genetic disease. She explained how rare the disorder is for people. “We have about 15 patients from all of the Charlotte area,” Dempsey said. She has traveled across the country, spoke at conferences and with lawmakers to bring awareness and fundraising for all rare disease.

Original title: “Mother channels fear into advocacy after son’s rare disease diagnosis”

Through Rare Disease Day activities ... patient voices and works to ensure that the unique needs of this ultra-rare community are recognized by healthcare systems, researchers, and policymakers. For more information about Familial Chylomicronemia Syndrome or how to support Rare Disease Day efforts, visit www.livingwithfcs.org. About the FCS Foundation The FCS Foundation was established to connect individuals affected by Familial Chylomicronemia Syndrome and to promote advocacy, education, ... Through Rare Disease Day activities and year-round efforts, the Foundation amplifies patient voices and works to ensure that the unique needs of this ultra-rare community are recognized by healthcare systems, researchers, and policymakers. For more information about Familial Chylomicronemia Syndrome or how to support Rare Disease Day efforts, visit www.livingwithfcs.org. About the FCS Foundation The FCS Foundation was established to connect individuals affected by Familial Chylomicronemia Syndrome and to promote advocacy, education, and support. 27, 2026 /PRNewswire/ -- Rare Disease Day, observed each year globally on the last day of February to shine a spotlight on the millions of individuals affected by rare conditions, gives the FCS Foundation an important platform to raise awareness about Familial Chylomicronemia Syndrome (FCS) — a rare genetic metabolic disorder that profoundly impacts daily life for patients and families. "Rare Disease Day reminds us that visibility matters," said Melissa Goetz, Co-President of FCS Foundation. "While FCS affects a small number of individuals, the challenges faced by our community are shared by millions living with rare diseases worldwide. Today, and every day, we honor the strength of patients and caregivers, and advocate for greater awareness, support, and progress in research that can improve lives."

Original title: “FCS Foundation Marks Rare Disease Day to Elevate Awareness and Support for Families Living with Familial Chylomicronemia Syndrome”

Through Rare Disease Day activities ... patient voices and works to ensure that the unique needs of this ultra-rare community are recognized by healthcare systems, researchers, and policymakers. For more information about Familial Chylomicronemia Syndrome or how to support Rare Disease Day efforts, visit www.livingwithfcs.org. About the FCS Foundation The FCS Foundation was established to connect individuals affected by Familial Chylomicronemia Syndrome and to promote advocacy, education, ... Through Rare Disease Day activities and year-round efforts, the Foundation amplifies patient voices and works to ensure that the unique needs of this ultra-rare community are recognized by healthcare systems, researchers, and policymakers. For more information about Familial Chylomicronemia Syndrome or how to support Rare Disease Day efforts, visit www.livingwithfcs.org. About the FCS Foundation The FCS Foundation was established to connect individuals affected by Familial Chylomicronemia Syndrome and to promote advocacy, education, and support. 27, 2026 /PRNewswire/ -- Rare Disease Day, observed each year globally on the last day of February to shine a spotlight on the millions of individuals affected by rare conditions, gives the FCS Foundation an important platform to raise awareness about Familial Chylomicronemia Syndrome (FCS) — a rare genetic metabolic disorder that profoundly impacts daily life for patients and families. "Rare Disease Day reminds us that visibility matters," said Melissa Goetz, Co-President of FCS Foundation. "While FCS affects a small number of individuals, the challenges faced by our community are shared by millions living with rare diseases worldwide. Today, and every day, we honor the strength of patients and caregivers, and advocate for greater awareness, support, and progress in research that can improve lives."

Original title: “FCS Foundation Marks Rare Disease Day to Elevate Awareness and Support for Families Living with Familial Chylomicronemia Syndrome”

On February 28, we recognize the 19th annual Rare Diseases Day 2026 to raise awareness of illnesses like mesothelioma. Rare Disease Day is observed on February 29, to raise awareness and advocate for access to better information and treatments for those affected by rare diseases. Rare Diseases Day is a global advocacy initiative dedicated to supporting rare disease patients and encouraging governments, researchers, health care providers, and the public to recognize the unique challenges they face. On February 28, more than 100 countries will celebrate the 19th annual Rare Diseases Day 2026, a time to raise awareness for the over 300 million people worldwide living with rare diseases. Patients, families, advocates, and health care professionals come together to share their stories, highlight the challenges of rare conditions, and call for increased funding to advance research and treatment options. Encouraging policymakers and health leaders to prioritize rare disease initiatives and patient support programs · Increasing public awareness and visibility of rare conditions and the people living with them · Improving data collection and understanding, which can help drive funding · Educational events, patient storytelling campaigns, community gatherings, and social media initiatives help encourage policymakers to prioritize rare disease research and bring together people from different backgrounds who share similar experiences.

Original title: “February 28 Is Rare Disease Day 2026”

Dave and Cathleen Reisenauer make transformative gift to advance rare disease research, education and patient advocacy ... Hesburgh Library is illuminated in recognition of Rare Disease Day. Motivated by the experience of caring for two children with a rare disease, Dave and Cathleen Reisenauer have made a transformative gift to the Universi... Notre Dame’s efforts in the rare disease space began more than a decade ago with the establishment of the Boler-Parseghian Center for Rare Diseases, and continued with the creation of the distinctive Minor in Science and Patient Advocacy program and the Patient Advocacy Initiative. The new institute will build on those efforts but with a fresh approach — one that, consistent with the University’s Catholic mission and values, centers patients and their experiences and aims to make a difference for the rare disease community through intentional integration of research, advocacy and education, guided by a deep commitment to ethical engagement and to honoring the dignity of patients and their families. Ultimately, the institute aims to be a beacon of hope for the rare disease community, revolutionizing care by uniting patients and experts to accelerate therapy development, empower organizations and train the next generation of advocates for lasting impact. “We are deeply grateful to Dave and Cathleen Reisenauer for their extraordinary generosity,” said Steve Corcelli, interim dean of the College of Science. “Their gift will allow us to unite research, education and patient advocacy in a way that reflects our Catholic mission and commitment to serving the most vulnerable, and to pursue this work with integrity and respect for the families who place their trust in us.”

Original title: “Dave and Cathleen Reisenauer make transformative gift to advance rare disease research, education and patient advocacy | News | Notre Dame News | University of Notre Dame”

Separately, the need for control arms in clinical trials can be particularly unattractive for rare disease trial participants. Traditional study designs commonly require one-third to one-half of trial participants be assigned to receive a placebo or the current standard of care treatment. Patients are sometimes disappointed by this assignment since they may have the view that the investigational therapy ... Separately, the need for control arms in clinical trials can be particularly unattractive for rare disease trial participants. Traditional study designs commonly require one-third to one-half of trial participants be assigned to receive a placebo or the current standard of care treatment. Patients are sometimes disappointed by this assignment since they may have the view that the investigational therapy is a superior option, especially for genetically targeted therapies, for example. Due to the very limited availability of treatment for rare diseases and an estimated 85%-90% of rare disease cases being serious or life-threatening, use of placebo or inadequate control therapy raises serious ethical concerns for rare disease trials. To tackle these issues associated with placebo control arms, synthetic control arms (SCAs) through Virtual Twin experiences can be used to compare trial treatment data. These SCAs provide a robust, regulatory-grade alternative to traditional clinical trial designs, offering significant impact within rare or biomarker-driven populations where unmet medical need and patient recruitment are persistent barriers to progress. Ruthie Davi, vice president of statistics and regulatory innovation at Medidata, highlights the value of technology in rare disease trials. As we mark Rare Disease Day 2026, it is worth reflecting on the developments in digitalisation, artificial intelligence (AI), and other technology in healthcare over the past year, and their role in shaping how rare disease clinical trials are steadily improving patient experience and helping to bring new treatments to market faster.

Original title: “Rare Disease Day: Revolutionising clinical trial enrolment and retention with technology - Clinical Trials Arena”

"There is perhaps only one circumstance in which it is acceptable to suggest to a loved one what I was about to suggest to my sister." Earlier that day, when Kathleen, my other sister, told me Feb. 29 is Rare Disease Day, we had both agreed that it would be a fitting day for Kim to die. “It’s Rare Disease Day today,” I told her, trying to sound nonchalant. It was at this point that my family learned that one-fourth of the blood supply in the United States is used by patients battling cancer. Cancer patients rely on these blood donations to stay strong enough to continue their treatments. They were supposed to be there for an entire week, but they were back the next morning. Just minutes into her first appointment, she was told to go home. There wasn’t any research being done on her type of incredibly rare cancer since it would only benefit a handful of people.

Original title: “I Asked My Sister To Try To Die On Rare Disease Day | HuffPost HuffPost Personal”