Rare diseases

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.

Richard Silverman to speak at ASBMB 2025

Richard Silverman and Melissa Moore are the featured speakers at the ASBMB annual meeting to be held April 12-15 in Chicago.

Becoming a scientific honey bee

At the World Science Forum, a speaker’s call for scientists to go out and “make honey” felt like the answer to a question Katy Brewer had been considering for a long time.

Study sheds light on treatment for rare genetic disorder

Aaron Hoskins’ lab partnered with a drug company to understand how RNA-targeting drugs work on spinal muscular atrophy, a disorder resulting from errors in production of a protein related to muscle movement.

New gene new strides in gangliosidosis

A gene that decreases disease progression in mice provides a new direction for human therapy.