Rare diseases
Women’s health cannot leave rare diseases behind
A physician living with lymphangioleiomyomatosis and a basic scientist explain why patient-driven, trial-ready research is essential to turning momentum into meaningful progress.
Cholesterol as a novel biomarker for Fragile X syndrome
Researchers in Quebec identified lower levels of a brain cholesterol metabolite, 24-hydroxycholesterol, in patients with fragile X syndrome, a finding that could provide a simple blood-based biomarker for understanding and managing the condition.
Early lipid changes drive retinal degeneration in Zellweger spectrum disorder
Lipid profiling in a rare disease mouse model reveals metabolic shifts and inflammation in the retinal pigment epithelium — offering promising biomarker leads to combat blindness.
How sugars shape Marfan syndrome
Research from the University of Georgia shows that Marfan syndrome–associated fibrillin-1 mutations disrupt O glycosylation, revealing unexpected changes that may alter the protein's function in the extracellular matrix.
What’s in a diagnosis?
When Jessica Foglio’s son Ben was first diagnosed with cerebral palsy, the label didn’t 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–Ryu–Malicdan 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’s fight for survival and hope. Without funding, science can’t “catch up” to help the patients who need it most.
Before we’ve lost what we can’t 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 — and just getting started.