Rare diseases
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.
What鈥檚 in a diagnosis?
When Jessica Foglio鈥檚 son Ben was first diagnosed with cerebral palsy, the label didn鈥檛 feel right. Whole exome sequencing revealed a rare disorder called Salla disease. Now Jessica is building community and driving research for answers.
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 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.
Glyco get-together exploring health and disease
Meet the co-chairs of the 2025 ASBMB meeting on O-GlcNAcylation to be held July 10鈥�13, 2025, in Durham, North Carolina. Learn about the latest in the field and meet families affected by diseases associated with this pathway.