NCEZID works with partners to advance infectious disease prevention and control.

Original title: “Our Partners”

This page provides an overview of botulism, its causes, and symptoms of botulism.

Original title: “About Botulism”

This blog was written by Jo Ashline, SYNGAP1 Mom to Andrew and Volunteer - Blog Editor and co-host of SYNGAP1 Stories. Ask any parent raising a child with SYNGAP1-Related Disorders what they think about Rare Disease Day, and most will likely tell you in their family, it’s Rare Disease Day ... This blog was written by Jo Ashline, SYNGAP1 Mom to Andrew and Volunteer - Blog Editor and co-host of SYNGAP1 Stories. Ask any parent raising a child with SYNGAP1-Related Disorders what they think about Rare Disease Day, and most will likely tell you in their family, it’s Rare Disease Day EVERY DAY! CURE SYNGAP1 is a global group of families committed to accelerating the science to cure SYNGAP1 & to supporting each other. Established by EURORDIS-Rare Diseases Europe in 2008, Rare Disease Day has grown into an international day of outspoken support for the rare disease community that’s rooted in advocacy, visibility, and hope for the future. With an ever-expanding platform featuring collaboration between national alliance patient organizations, parent and caregiver groups, medical professionals, educators, and service providers, the goal for this 19th Annual Rare Disease Day remains focused on amplifying the voices and experiences of over 300 million people living with a rare disease globally. Held each year on February 28th – with the exception of leap year, when Rare Disease Day falls on the rarest of days, February 29th – organizers and participants find innovative and creative ways to highlight the urgency of funding critical and potentially life-saving research, the diverse needs of patients living with a rare disease and their families, the continued need for improved outcomes and accessibility across medical, academic, therapeutic and community settings, and highlighting the real stories and lives behind the statistics.

Original title: “Rare Disease Day 2026: CURE SYNGAP1 – CURE SYNGAP1”

When Doug Ingram became Sarepta Therapeutics’ CEO in 2017, he didn’t have a connection to muscular dystrophy, but he has developed a fierce passion for the therapeutic area. He will step aside from his role to dedicate more time to his family.

Original title: “Sarepta CEO Doug Ingram To Step Down as Muscular Dystrophy Mission Hits Home”

Observed on the last day of February, Rare Disease Day 2026 highlights that 72% of rare diseases are genetic, urging support for equitable diagnosis and care worldwide. Rare Disease Day is driven by the rare disease community itself, including people living with a rare disease, families, caregivers, patient organizations, healthcare professionals, and researchers. Every effort, regardless of scale, increases visibility and reinforces the call for meaningful change. Symbolic gestures such as illuminating buildings or landmarks, displaying campaign colors, or joining virtual activities make support visible. Supporters may contribute by becoming an official friend of the campaign and donating to rare disease patient organizations. Medindia, viewed Feb 28, 2026, https://www.medindia.net/news/healthwatch/rare-disease-day-2026-living-rare-in-a-world-built-for-common-222540-1.htm. ... Incurable diseases are disorders of infectious, non-infectious, genetic, metabolic, neoplastic or autoimmune nature that do not currently have a cure. ... Dark showering, or showering with lights off at night, may help sleep by relaxing the body and supporting melatonin release, experts say. ... Nearly 13.8 percent of stroke patients in India are below 45 years, with hypertension identified as the leading risk factor in a large national registry study. Learn about Rare Disease Day 2025, patient struggles, and the push for better care.

Original title: “Rare Disease Day 2026: Living Rare in a World Built for Common”

On Rare Disease Day 2026, Jill Hawkins shares why rare disease research is closer than ever to life-changing treatments for families impacted by FAM177A1. Rare Disease Day has always been meaningful in our home. But Rare Disease Day 2026 feels like a moment of visible forward motion—a moment where years of dedication, advocacy, and scientific rigor are converging into real opportunity. Every day is Rare Disease Day in our house. And yet, Rare Disease Day 2026 feels different. Feb 28th is International Rare Disease Day (or, Feb 29th, the “rarest” of days, when it occurs).

Original title: “Letter from Our Founder: Rare Disease Day 2026—We’ve Never Been Closer”

From gene mutations to novel therapies, scientists are translating discoveries into meaningful progress for often overlooked patients. Illuminated in pink, green, purple, and blue for Rare Disease Day, the Wells Fargo Tower in Roanoke glows as a visible reminder of the 1 in 10 Americans affected by rare diseases and the research advancing across Virginia Tech to improve diagnosis, treatment, and outcomes for patients and their families. Fralin Biomedical Research Institute Professor Sharon Ramey and Associate Professor Stephanie DeLuca have developed and refined therapies to treat genetic neuromotor movement disorders. The team has adapted the therapy developed to help children and young adults with cerebral palsy for patients with rare diseases that affect neuromotor skills, such as some CASK-related disorders. Assistant Professor Ryan Purcell of the Fralin Biomedical Research Institute examines the molecular mechanisms of neuropsychiatric disease risk, which will provide insights for novel strategies to address a number of rare genetic syndromes. Nick Rider, a data scientist and clinical immunologist with Carilion Clinic and professor in the Virginia Tech Carilion School of Medicine, focuses on building computational tools to quantify various aspects of the epidemiology, clinical journey, biology and clinical outcomes for patients with inborn errors of immunity, which are caused by damaging variants in single genes. Matt Weston, associate professor at the Fralin Biomedical Research Institute, examines childhood seizure disorders, including a number of developmental and epileptic encephalopathy disorders affecting small patient populations. Meike van der Heijden, assistant professor at the Fralin Biomedical Research Institute, studies how cerebellar circuits mature during brain development. Her work on the cerebellum helps inform a better understanding of rare diseases such as spinocerebellar ataxia and dystonia.

Original title: “Rare Disease Day: Virginia Tech researchers tackle uncommon conditions | Virginia Tech News | Virginia Tech”

Regulators overseeing rare disease treatments need better tools to weigh competing risks in real time. Sarepta Therapeutics’ Elevidys is a prime example of why.

Original title: “Opinion: Balancing Safety Access in Rare Disease—Lessons From Sarepta”

Pneumococcal disease symptoms depend on which part of the body is affected.

Original title: “Pneumococcal Disease Symptoms and Complications”

Cause of, risk factors for, and transmission of pneumococcal disease.

Original title: “Clinical Overview of Pneumococcal Disease”

Many different bacteria, fungi, and viruses can cause pneumonia (a lung infection).

Original title: “About Pneumonia”

Learn what causes pneumococcal disease, how these bacteria spread, and who's most at risk.

Original title: “Pneumococcal Disease: Causes and How It Spreads”

A Michigan mother, Azeza Kasham, is raising awareness for the fatal Lafora disease, which two of her sons, Hiatham and Gigi Breadiy, were both diagnosed with. Her older son, Hiatham, was diagnosed in 2017 and died in 2019, and Gigi was diagnosed days after his brother's death. The disease is fatal even with treatment, and affects roughly one in 10 million people. Patients are typically given a 10-year life expectancy after initial diagnosis. It occurs when both parents unknowingly carry the gene. Her elder son, Hiatham, was diagnosed at 16 years old in 2017 and died of the disease two years later · Hiatham's brother, Gigi, was diagnosed with the fatal condition 10 days after his brother's death · A Michigan mother is working to raise awareness of a rare disease that's had a profound impact on her family. "This disease is taking him piece by piece." The mother continued: "Ultimately, I'm going to lose him." Kasham, who cares for her son as she raises awareness for his condition, also noted that the company researching a cure recently stopped its work. "I want to feel like I did everything I could for him, and right now I don't feel that way,” she said. 7-Year-Old with Rare Disease — 'Basically Childhood Dementia' — Needs $172,000 Therapy Every 2 Weeks (Exclusive) Dr. Nancy McNamara, the division chief of Pediatric Neurology at Corewell Health, remarked on the disease’s severity, "I often think about this one being one of the worst diseases that you could have.”

Original title: “16-Year-Old Boy Diagnosed with Fatal Rare Disease Days After Brother Died from the Same Disease”

Director Loeys-Dietz and Marfan for the Marfan Foundation Stacey Watson shares her first-person experience on the Hill today in Washington, D.C. Today I attended “Patient Advocacy Driving Innovation for People Living with Rare Diseases: A Congressional Briefing in Recognition of Rare Disease ... Director Loeys-Dietz and Marfan for the Marfan Foundation Stacey Watson shares her first-person experience on the Hill today in Washington, D.C. Today I attended “Patient Advocacy Driving Innovation for People Living with Rare Diseases: A Congressional Briefing in Recognition of Rare Disease Day” hosted by the National Organization for Rare Disorders (NORD). Stacey Watson represented the Marfan Foundation on the Hill for Rare Disease Day 2026 at a NORD event pushing for healthcare support. I was there both as someone living with Loeys-Dietz syndrome and as the Director of Loeys-Dietz and Marfan at The Marfan Foundation — but most importantly, I was there as part of a community. Rare disease is often perceived as uncommon or isolated. Yet 30 million Americans are living with a rare disease. Fewer than 5% of rare diseases have an FDA-approved treatment. Sustained innovation, access to care, and early diagnosis depend on strong federal policy. Alone we are rare. Together we are strong. The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.

Original title: “"Alone we are rare, together we are strong!": Rare Disease Day Advocacy 2026 - Marfan Foundation”

NORD is encouraged by efforts to strengthen and clarify regulatory tools that advance rare disease treatments. For conditions with extremely small patient populations, where traditional clinical trials are difficult to … Continue reading "NORD CEO Statement on FDA Draft Guidance for the Plausible Mechanism Framework for Individualized Genetic Therapies"

Original title: “NORD CEO Statement on FDA Draft Guidance for the Plausible Mechanism Framework for Individualized Genetic Therapies”

Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive. Location can also be a big hurdle for patients seeking this specialized care. LUPKIN: Shrank recently founded a company called Aradigm to make gene therapy more widely available. As for Vidrine, there is already a gene therapy for retinitis pigmentosa on the market, but it doesn't work for the genetic mutation he has. So he's hoping to get into a clinical trial for one of the other therapies being developed. Gene therapies have the potential to cure some diseases, but they're very expensive, and only specialized hospitals offer them. That means many patients in need are going untreated. NPR's Sydney Lupkin reports. SYDNEY LUPKIN, BYLINE: Dustin Vidrine found out he has a rare eye disease when he was a teen. LUPKIN: Then a doctor told him about gene therapies. These are usually one-time treatments that break into cells and modify the disease-causing genes. Gene therapy access is limited by cost and geography Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive.

Original title: “Gene therapy access is limited by cost and geography : NPR”

Gene therapies have the potential to cure some diseases, but they are extraordinarily expensive. Location can also be a big hurdle for patients seeking this specialized care. There are additional steps and rules for participating in clinical trials. The Louisiana Department of Health, which is responsible for the state's Medicaid program, did not respond to requests for comment. ... The exact number of patients who've received these kinds of treatments is hard to pin down because there's no central reporting system, says Sarah Kikkert, a spokesperson for the · American Society of Gene and Cell Therapy. Aradigm to help make gene therapy more widely available. ... called Luxturna, but it doesn't work for the genetic mutation he has. So he's hoping to get into a clinical trial for one of the Gene therapies are usually one-time treatments that break into cells and modify the disease-causing genes. He has retinitis pigmentosa, a rare, inherited eye disease that runs in his family.

Original title: “Gene therapy is transforming lives, but for many Americans it's hard to reach”

But why, with so many affected, are there still so few therapies for rare diseases? While scientific advances continue to identify new conditions, progress in developing and evaluating treatments has been far slower—raising difficult questions about how clinical trials are designed, conducted, and assessed. A recent webinar series organised ... But why, with so many affected, are there still so few therapies for rare diseases? While scientific advances continue to identify new conditions, progress in developing and evaluating treatments has been far slower—raising difficult questions about how clinical trials are designed, conducted, and assessed. A recent webinar series organised by the IHI-funded RealiseD project brought together over 1,150 participants—including patients, regulators, clinicians, academics, and industry representatives—to examine where rare disease clinical trials are falling short, and how they might be redesigned to better reflect biological reality, regulatory expectations, and lived experience. At the heart of the challenge lies scale—or the lack of it. Rare disease trials typically involve small, geographically dispersed patient populations, making recruitment slow and conventional statistical power difficult, if not mathematically impossible, to achieve. At the same time, genetic and clinical heterogeneity means that patients with the “same” diagnosis may experience markedly different symptoms, disease trajectories, and treatment responses. A webinar series organised by the Innovative Health Initiative (IHI) funded project RealiseD, spotlights the unique challenges for clinical trials in rare diseases and explores innovative, patient-centered solutions. With traditional two arm randomised controlled trials (RCT) often proving not feasible in the context of rare diseases due to ethical, logistical, or recruitment constraints, a later session explored what alternatives might look like in practice. Single arm trials, RCTs, Bayesian approaches, and the use of real-world evidence were all discussed as potential tools—provided their limitations are clearly understood. Single arm trials, for example, could be appropriate when treatment effects are substantial or placebo use would be unethical, but they also pose challenges for causal interpretation.

Original title: “Rare Disease Day 2026: Where are clinical trials for rare conditions headed next? | Research Communities by Springer Nature”

Rare Disease Day is Right Around the Corner - Servier Pharmaceuticals / cancer, OncoDaily, Oncology, Rare Disease Day, Servier Pharmaceuticals Servier team members came together last week to raise awareness for the millions of people living with or caring for someone with a rare disease. Employees showed their support by wearing stripes and sharing what Rare Disease Day means to them.

Original title: “Rare Disease Day is Right Around the Corner - Servier Pharmaceuticals - OncoDaily”

At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the ... At FDA Rare Disease Day 2026, leaders highlighted new regulatory pathways, faster review programs, and patient-centered innovations accelerating treatments for rare diseases, including NF1 and pediatric cancers. From the Plausible Mechanism Framework to expanded real-world evidence use, the message was clear: Urgency, flexibility, and patient voice are driving rare disease drug development forward. The example illustrates how flexible designs and meaningful endpoints can bring treatments to patients with conditions that historically had few options. For many families affected by NF1 and other rare conditions, Rare Disease Day is personal. In my recent LinkedIn newsletter reflecting on Rare Disease Month and my mother’s experience with NF1, I wrote about the intersection of science, advocacy, and gratitude. On Rare Disease Day, the reminder for IPC leaders is clear: rare does not mean irrelevant. Preparedness, surveillance, and stewardship remain foundational. Rare Disease Day 2026 at the Food and Drug Administration carried a tone of urgency, momentum, and collaboration. The theme is ““Moving forward. Looking ahead. An event for patients.” Throughout the event, agency leaders, clinicians, patient advocates, and scientists emphasized that progress in rare diseases depends not only on regulatory flexibility, but on listening carefully to the lived experiences of patients and families.

Original title: “FDA Rare Disease Day 2026: Moving Forward With Urgency, Innovation, and Patient Voice | Infection Control Today”