Genes and genetics

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.

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 MCP paper.

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.

Defeating deletions and duplications

Promising therapeutics for chromosome 15 rare neurodevelopmental disorders, including Angelman syndrome, Dup15q syndrome and Prader–Willi syndrome.

Using 'nature’s 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.