A CRISPR-Cas9 enzyme (orange) cutting a DNA strand (blue)
CRISPR-Based Treatment Successfully Lowers Toxic Protein Levels
A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.
CRISPR-Based Treatment Successfully Lowers Toxic Protein Levels
CRISPR-Based Treatment Successfully Lowers Toxic Protein Levels

A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.

A first-of-its-kind gene therapy dramatically reduced misfolded protein levels in some clinical trial participants for up to six months and reduced levels in all participants for up to a year.

inherited disease
Man with glasses wearing yellow long sleeve shirt sits at a desk, surrounded by stacks of paper
Stephen Warren, Icon of Fragile X Research, Dies at 67
Lisa Winter | Sep 21, 2021
He famously identified the genetic mutation that causes the condition in 1991.
Concerns over Efficacy and Cost of Muscle Wasting Treatments
Ruth Williams | Nov 11, 2020
Two new medications for treating a rare and deadly neuromuscular disease have high prices and questionable efficacies, say scientists.
Recent Trials for Fragile X Syndrome Offer Hope
Randi Hagerman | Sep 1, 2019
Despite a solid understanding of the biological basis of fragile X syndrome, researchers have struggled to develop effective treatments.
Infographic: The Genetics of Fragile X Syndrome
Randi Hagerman | Sep 1, 2019
Variation in the number of CGG repeats in the FMR1 gene at the bottom of the X chromosome can lead to increased levels of mRNA or decreased levels of protein—both conditions that cause disease.
Among the Amish, c. 1960s
Diana Kwon | May 1, 2018
Victor McKusick’s pioneering investigations provided insight into hereditary disorders.
Advisors to FDA Recommend Approval of Gene Therapy for Blindness
Jef Akst | Oct 12, 2017
Spark Therapeutics’s Luxturna would be the first approved therapy in the U.S. that replaces or repairs a defective gene inherited from one’s parents.
Genotyping “Surrogates” Misdiagnoses Deadly Heart Condition
Kerry Grens | Nov 2, 2016
Family members with a certain gene variant had unnecessary interventions, highlighting the potential hazards of precision medicine.