Genes and genetics
How sugars shape Marfan syndrome
Research from the University of Georgia shows that Marfan syndrome鈥揳ssociated fibrillin-1 mutations disrupt O glycosylation, revealing unexpected changes that may alter the protein's function in the extracellular matrix.
Glow-based assay sheds light on disease-causing mutations
University of Michigan researchers create a way to screen protein structure changes caused by mutations that may lead to new rare disease therapeutics.
How signals shape DNA via gene regulation
A new chromatin isolation technique reveals how signaling pathways reshape DNA-bound proteins, offering insight into potential targets for precision therapies. Read more about this recent 九游体育 paper.
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.
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.
Cracking cancer鈥檚 code through functional connections
A machine learning鈥揹erived protein cofunction network is transforming how scientists understand and uncover relationships between proteins in cancer.