ResearchBIORXIV2 days ago
Scientists created a new laboratory model using brain cells to study how tau proteins clump together in different brain diseases. They used actual tau from patient brains instead of artificial versions, which helps them understand why different diseases cause different types of tau damage. This model also showed how tau clumping breaks down the cell's recycling system, called lysosomes.
WHY IT MATTERSThis research provides a more accurate way to test potential treatments for tauopathies by using real patient tau, which could lead to better drugs that target the specific type of tau damage in individual diseases.
NewsRSS6 days ago
As people with Pompe disease get older, they may experience new health problems that are hard to tell apart from regular aging. One woman with Pompe disease shares her story about how her condition affects her health as she gets older. This article helps patients understand what changes might be related to their rare disease versus normal aging.
WHY IT MATTERSAdults with Pompe disease need to know which new health symptoms are disease-related versus age-related so they can discuss them with their doctors and get appropriate treatment.
AdvocacyRSSMay 4
Bruce Campbell, who has Pompe disease, competed in the Absa Cape Epic, a major mountain biking race. This article shares the hidden challenges he faced during the race that most people don't see. It shows what it's like to push your body to its limits while managing a rare muscle disease.
WHY IT MATTERSThis story demonstrates that people living with Pompe disease can pursue athletic goals and extreme physical challenges, which may inspire patients and help caregivers understand what's possible with proper management.
NewsRSSApr 22
A person with Pompe disease shares how their weight challenges changed over time. As a child, they couldn't gain weight and stayed at 60 pounds. Now as an adult at 35 years old, they face the opposite problem and struggle to lose weight. This shows how Pompe disease can affect the body differently at different life stages.
WHY IT MATTERSThis personal account highlights how Pompe disease's metabolic effects evolve with age and treatment, which can help newly diagnosed patients and families understand what to expect as they grow older.
AdvocacyRSSApr 22
Bruce Campbell, who has Pompe disease, is competing in the Absa Cape Epic, one of the world's toughest mountain biking races. Despite living with a rare muscle disease that affects his strength and endurance, he decided to take on this extreme athletic challenge. His story shows how people with rare diseases can push their limits and achieve goals they set for themselves.
WHY IT MATTERSThis story demonstrates that people living with Pompe disease can maintain active lifestyles and pursue challenging physical goals, which may inspire patients to discuss realistic exercise options with their care team.
ResearchPUBMEDApr 3
Researchers reviewed studies from the past 10 years about how artificial intelligence and connected care technologies can help patients with rare diseases, especially lysosomal storage disorders (LSDs)—conditions where the body can't break down certain substances properly. The review found that while these digital health tools show promise for helping doctors diagnose and manage these complex diseases, there are still big gaps in the research and not enough real-world examples of these technologies being used in patient care.
WHY IT MATTERSIf you have a lysosomal storage disorder, this research could lead to faster diagnosis, better remote monitoring through connected devices, and AI tools that help your doctors catch problems earlier—potentially improving your long-term care and quality of life.
NewsUNITERAREApr 3
The PAN Foundation's financial assistance program for Pompe disease patients is currently closed and not accepting new applications. This program previously provided up to $12,000 per year to help eligible patients pay for treatment costs. The fund status changed on April 2, 2026, and patients should check the PAN Foundation website for updates on when it might reopen.
WHY IT MATTERSPompe disease patients who rely on financial assistance to afford enzyme replacement therapy or other treatments now have one fewer funding option available, which could impact their ability to access care.