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.
ABOVE: © iStock.com, Design Cells
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.

ABOVE: © iStock.com, Design Cells

genetic disease

PATH TO TREATMENT: Marley, pictured here with her father, was diagnosed with the rare genetic condition Bachmann-Bupp syndrome a few years ago.
Doctors Treat Girl’s Genetic Disorder with Repurposed Drug
Amanda Heidt | Dec 1, 2021
In just 16 months, physicians went from identifying a novel rare disease in three-year-old Marley to successfully treating her with a drug previously used to treat African sleeping sickness and pediatric cancer.
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.
Harnessing Stem Cells to Model Neurological Disorders
The Scientist Creative Services Team | Apr 15, 2021
Red blood vessels that decrease in diameter as they radiate outward are pictured on a pink and white surface
Antisense Oligonucleotides Cross Rodents’ Blood-Brain Barrier
Abby Olena | Aug 18, 2021
RNA-DNA complexes that were modified with cholesterol made it into the brains of rats and mice, where they knocked down target genes.
cartoon image of a brain against a black background
Humans Can Survive Without Key Autophagy Gene
Annie Melchor | Jul 19, 2021
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist Creative Services Team | Mar 31, 2021
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
Gene Therapy in One Eye Improves Vision in Both Eyes
Abby Olena | Dec 11, 2020
It’s not clear why the patients with Leber hereditary optic neuropathy, a mitochondrial disorder that causes blindness, also experienced the modest benefits in their untreated eye.
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.
Liver Dysfunction: Causes and Mechanisms
The Scientist Creative Services Team | Dec 21, 2020
Learn about the underlying causes and mechanisms behind liver pathophysiology.
Circulating Fetal Cells Sequenced for Prenatal Testing Study
Emily Makowski | Dec 10, 2019
Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.
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.
The Scientist Speaks Podcast - Episode 7
The Scientist Creative Services Team | Jul 29, 2020
Brains in the Palm of your Hand: 3D Organoid Cell Culture
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.
HEEL PRICK
Heel Prick, 1957
Ashley Yeager | Jul 15, 2019
Robert Guthrie’s blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth.
a drop of blood for a newborn's heel is placed on a piece of paper
Gene Therapy Effective for Severe Combined Immunodeficiency
Shawna Williams | Apr 17, 2019
Researchers report they’ve found a way to restore immune function in infants with one form of “bubble boy disease.”
episignature epigenetics rare disease
Researchers Analyze Epigenetic Signatures to Diagnose Rare Diseases
Katarina Zimmer | Mar 28, 2019
A number of rare diseases show unique epigenetic patterns across the genome, a feature researchers have now exploited to build a diagnostic tool.
AI App Identifies Rare Genetic Disorders from Photos of Patients’ Faces
Catherine Offord | Jan 8, 2019
Deep-learning algorithms could help doctors narrow in on the causes of certain medical conditions, say researchers.
FDA Approves Oral Drug for Fabry Disease
Ashley Yeager | Aug 13, 2018
The medicine increases the activity of a deficient enzyme in certain patients with the condition.
Bioethics Council: Gene-Editing Human Embryos Conditionally OK
Shawna Williams | Jul 17, 2018
The UK-based organization encourages public debate about the issue but does not recommend immediate policy change.