Rare diseases

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.

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.

Glyco get-together exploring health and disease

Meet the co-chairs of the 2025 ASBMB meeting on O-GlcNAcylation to be held July 10–13, 2025, in Durham, North Carolina. Learn about the latest in the field and meet families affected by diseases associated with this pathway.

CRISPR epigenome editor offers potential gene therapies

Scientists from the University of California, Berkeley, created a system to modify the methylation patterns in neurons. They presented their findings at ASBMB 2025.

A new kind of stem cell is revolutionizing regenerative medicine

Induced pluripotent stem cells are paving the way for personalized treatments to diabetes, vision loss and more. However, scientists still face hurdles such as strict regulations, scalability, cell longevity and immune rejection.