Disease mechanisms and treatments

How scientists identified a new neuromuscular disease
NIH researchers discover Morimoto鈥揜yu鈥揗alicdan syndrome, after finding shared symptoms and RFC4 gene variants in nine patients, offering hope for faster diagnosis and future treatments.

Unraveling cancer鈥檚 spaghetti proteins
MOSAIC scholar Katie Dunleavy investigates how Aurora kinase A shields oncogene c-MYC from degradation, using cutting-edge techniques to uncover new strategies targeting 鈥渦ndruggable鈥 molecules.

Receptor antagonist reduces age-related bone loss in mice
Receptor antagonist reduces bone loss and promotes osteoblast activity in aging mice, highlighting its potential to treat osteoporosis. Read more about this recent JBC paper.

Omega-3 fats linked to healthy aging and improved heart metabolism
Scientists from the University of Iowa find that a diet high in polyunsaturated fatty acids from fish oil increases cardiac triglyceride uptake and improves insulin sensitivity. Read more about this recent JLR study.

RA patient blood reveals joint innerworkings
Researchers in the Netherlands use mass spectrometry to compare the proteome of plasma and synovial fluid in rheumatoid arthritis patients and find a correlation. Read more about this recent paper in 麻豆传媒色情片 & Cellular Proteomics.

Hope for a cure hangs on research
Amid drastic proposed cuts to biomedical research, rare disease families like Hailey Adkisson鈥檚 fight for survival and hope. Without funding, science can鈥檛 鈥渃atch up鈥 to help the patients who need it most.

Before we鈥檝e lost what we can鈥檛 rebuild: Hope for prion disease
Sonia Vallabh and Eric Minikel, a husband-and-wife team racing to cure prion disease, helped develop ION717, an antisense oligonucleotide treatment now in clinical trials. Their mission is personal 鈥 and just getting started.

Defeating deletions and duplications
Promising therapeutics for chromosome 15 rare neurodevelopmental disorders, including Angelman syndrome, Dup15q syndrome and Prader鈥揥illi syndrome.

Using 'nature鈥檚 mistakes' as a window into Lafora disease
After years of heartbreak, Lafora disease families are fueling glycogen storage research breakthroughs, helping develop therapies that may treat not only Lafora but other related neurological disorders.