By Zoya Teirstein Naegleria fowleri, a rare and deadly brain-eating amoeba. (Centers for Disease Control and Prevention)Editor’s note: This story was originally published by Grist. It appears here as part of the Climate Desk collaboration. A 16-month-old boy was playing in a splash pad at a country club in Little Rock, Arkansas, this summer when water...
Tag: <span>rare disease</span>
First New Treatment in 30 Years for Rare Disease Effective, Tolerable, Convenient
Nancy A. Melville PHOENIX — Subcutaneous efgartigimod PH20 SC shows efficacy and tolerability in the treatment of chronic inflammatory demyelinating polyneuropathy (CIDP), providing a convenient alternative to intravenous and other older treatments for this rare disease. “This was the largest study of CIDP that has been performed, with over 600 patients screened and 322 enrolled,...
‘Extremely rare’ case of mosquito-borne dengue found in California
A California health department has confirmed its first locally-acquired case of dengue virus in one of its residents. Alex ArgerPosted: 6:22 p.m. EDT Oct 23, 2023An “extremely rare” illness completely foreign to the state of California has been discovered there, and its appearance is not associated with travel. On Friday, officials with the health department...
Unexplored genomic control regions yield the key to finding causes of rare disease
by University of Exeter Credit: Pixabay/CC0 Public Domain Scientists have discovered the cause of a rare condition within a part of the genome that has been largely unexplored in medical genetics. A team at the University of Exeter has found genetic changes in a region that controls the activity of the genome, turning on or...
Study of rare disease reveals insights on immune system response process
JOHNS HOPKINS MEDICINE FOR IMMEDIATE RELEASE In laboratory experiments involving a class of mutations in people with a rare collection of immune system disorders, Johns Hopkins Medicine researchers say they have uncovered new details about how immune system cells respond to disease-causing bacteria, fungi and viruses such as SARS-CoV-2. The findings, the scientists report, reveal...
Cell research on rare disease finds new link to inflammation
by Dr Sophia Davidson, University of Melbourne Credit: CC0 Public Domain “How many people actually have this disease?” It’s a potentially triggering question at a family BBQ. I had just finished explaining why I’d recently traveled to the U.S. to work on samples from patients with a rare disease called proteasome related autoinflammatory syndrome (PRAAS)....
Origin of rare disease FOP rooted in muscle regeneration dysfunction
by Perelman School of Medicine at the University of Pennsylvania An image of a control cell with normal muscle regeneration compared to a cell with the same genetic mutation that people with FOP have. Credit: Penn Medicine Fibrodysplasia ossificans progressiva (FOP) is a rare disease characterized by extensive bone growth outside of the normal skeleton...
Research team identifies new rare disease affecting hematopoiesis and immunity
by St. Anna Children’s Cancer Research Institute Credit: CC0 Public Domain The immune system is one of the most complex and fascinating networks in the human body. Comprised of cellular and humoral components, it not only protects us against external intruders such as viruses or bacteria, but also plays a fundamental role in detecting aberrant...
C-Path and RARE-X establish new collaboration for rare disease data sharing
CRITICAL PATH INSTITUTE (C-PATH) TUCSON, Ariz. and ALISO VIEJO, Calif., September 14, 2021 — Critical Path Institute (C-Path), who’s aim is to catalyze the development of new approaches that advance medical innovation and regulatory science, today announced a collaboration with RARE-X to improve ways researchers can access and analyze patient data. RARE-X is a nonprofit organization dedicated...
‘Never seen anything as effective’ – the not-so-new-drug repurposed for a rare disease
The earliest signs of alkaptonuria are often subtle and harmless, like a diaper stained black. However, over the years, this rare genetic disease can lead to a lifetime of surgery. Now, after 20 years of research, a not-so-new drug can offer relief for thousands of patients worldwide. Image credit: Pixabay (Free Pixabay license) The disease,...
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