April 17, 2020

Rare Disease Patient Finds Renewed Hope at NIH
By Dana Talesnik
Living with a rare disease can be interminably distressing. April Murphy lives with a rare, life-threatening metabolic disorder and is in end-stage renal failure, yet she considers herself fortunate.

Treatment Opportunities Seen for Angelman Syndrome
By Carla Garnett
People with Angelman syndrome face significant lifelong challenges. Scientists are developing three strategies to treat the disorder—relieve symptoms, reactivate the dormant UBE3A or apply traditional gene therapy.
Rare Disease Research Progressing, But Could Go Even Faster
By Eric Bock
Rare diseases are conditions affecting fewer than 200,000 people in the United States. The “overwhelming majority” of these diseases are far less prevalent, explained Dr. Anne Pariser, director of the Office of Rare Diseases Research at NCATS. In total, there are 25 million-30 million people with rare diseases in the United States.
NIEHS Cryo-EM Resources Support Fight Against Novel Coronavirus
By Kelly Lenox
The NIEHS cryo-electron microscopy facility, led by Dr. Mario Borgnia, is providing key support to the Duke Human Vaccine Institute in the fight against the SARS-CoV-2 virus, which produces COVID-19.

On the Cover

A little-known ocean-dwelling creature, Hydractinia, most commonly found growing on dead hermit crab shells, may seem like an unlikely study subject for researchers, but this animal has a rare ability—it can make eggs and sperm for the duration of its lifetime. It produces germ cells—precursors to eggs and sperm—nonstop throughout its life. Studying this unique ability could provide insight into the formation of reproductive-based conditions and diseases in humans.

ANDY BAXEVANIS, NHGRI

April 17, 2020

Vol. LXXII, No. 8

April 17, 2020

Vol. LXXII, No. 8

April 17, 2020

Rare Disease Patient Finds Renewed Hope at NIH

Treatment Opportunities Seen for Angelman Syndrome

Rare Disease Research Progressing, But Could Go Even Faster

NIEHS Cryo-EM Resources Support Fight Against Novel Coronavirus

On the Cover

The NIH Record