For most of my adult life I was blissfully unaware of rare diseases. This lasted until 2016, when I was diagnosed with idiopathic pulmonary fibrosis (IPF), a life-threatening and progressive lung disease that affects about 200,000 Americans, with 50,000 new cases diagnosed annually in the U.S. Like many others,…
An IPF Patient Perspective on What It Means to Be Rare
The approved antibiotic nifuroxazide halted the development, and reversed the signs, of induced pulmonary fibrosis (PF) in mice, a study showed. These data support further research into the repurposing of nifuroxazide as a viable therapeutic option for people with PF, according to scientists. The team noted that there were…
The nonprofit RARE-X is creating an easily-accessible, centralized data hub for all rare disease patient data that can help researchers answer questions about existing disorders, discover new ones, and work toward finding treatments. It was spun out of the work that Nicole Boice, founder and chief engagement officer of…
The availability and quality of healthcare patients receive is often based on where they live and what they can afford. This is especially true for those among us with a rare disease. That’s what health equity is all about. It belongs under the umbrella term “social justice,” which encompasses a…
People carrying a genetic variant of the gene coding for Mucin 5B — a component of lung mucus and needed for cellular function — are at increased risk of developing idiopathic pulmonary fibrosis (IPF), according to a recent study. In this variant, the nucleotide guanine, one of the building…
Two protein kinases, called DCLK1 and STK33, may serve as candidates for a molecular targeted therapy of idiopathic pulmonary fibrosis (IPF), a study reported. Current anti-fibrotic therapies for IPF have been shown to slow disease progression. One such approved treatment, Ofev (nintedanib), works by blocking the tyrosine kinase. But…
It’s been nearly a year since the EveryLife Foundation for Rare Diseases released its expansive report finding the total economic burden of rare disorders in the U.S. to be nearly $1 trillion.
The inhalation of tiny plastic particles called polystyrene microplastics — an emerging pollutant that affects both terrestrial and aquatic ecosystems — was associated with the development of pulmonary fibrosis (PF) in healthy mice, a study shows. Notably, these microplastics were found to promote oxidative stress and damage to lung cells,…
Last month, I suffered a significant injury to my left knee. I had just parked outside a medical building for an appointment. The sun was setting on a relatively mild Canadian winter day, and I slipped on a patch of black ice, dislocating my patella and falling hard onto the…
Boehringer Ingelheim Canada has finished negotiations with the pan-Canadian Pharmaceutical Alliance (pCPA) — a partnership between the country’s provincial, territorial and federal governments — for Ofev (nintedanib), the company’s approved oral medication for progressive fibrosing interstitial lung diseases (PF-ILD). The pCPA conducts negotiations with drug manufacturers for treatments…
