Colorful DNA strands
Scans of Sundry Variant Types Uncover Autism-Linked Genes
Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.
Scans of Sundry Variant Types Uncover Autism-Linked Genes
Scans of Sundry Variant Types Uncover Autism-Linked Genes

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

Troves of sequencing data reveal genes tied to autism through different variant types, providing a more complete picture of the condition’s genetic roots and new clues to its heterogeneity.

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genetic disease
A twisted and folded illustration of single-stranded RNA in front of a blue background.
Deficient RNA Editing Implicated in Inflammatory Disease 
Alejandra Manjarrez | Aug 5, 2022
Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.
genome sequence text on screen 
Q&A: Whole Genomes of 150,000 Britons Reveal Novel Genetic Variants
Sophie Fessl | Aug 5, 2022
Height and onset of menarche are among traits linked to previously unidentified genetic variants in noncoding regions of the human genome.
 Learn how genetics research identifies new targets for complex disease therapies.
Revealing Gene Functions in Health and Disease
The Scientist Creative Services Team and Fortis Life Sciences
Understanding genetic mechanisms that alter cellular pathways.
Leon Rosenberg in a grey sports coat
Physician and Geneticist Leon Rosenberg Dies at 89
Andy Carstens | Aug 3, 2022
He advanced the field of medical genetics, spoke out about reducing the stigma associated with mental illness, and captured attention for asserting that scientific evidence failed to demonstrate that life begins at conception.
A gloved hand holds a tweezer and pulls a section of DNA away from a double helix
First Person Dosed in Novel Gene Editing Clinical Trial
Amanda Heidt | Jul 12, 2022
The biotech company Verve Therapeutics launched the study with the aim of using base editing to treat a genetic condition that causes high cholesterol and increases a person's risk of developing cardiovascular disease.
Harnessing Stem Cells to Model Neurological Disorders
The Scientist Creative Services Team
multicolor DNA sequencing gel
Genetic Mutations Can Be Benign or Cancerous—a New Method to Differentiate Between Them Could Lead to Better Treatments
Ryan Layer, The Conversation | May 27, 2022
Tumors contain thousands of genetic changes, but only a few are actually cancer-causing. A quicker way to identify these driver mutations could lead to more targeted cancer treatments.
An orange CRISPR Cas 9 enzyme cutting DNA
CRISPR-Based Treatment Successfully Lowers Toxic Protein Levels
Natalia Mesa | Mar 2, 2022
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.
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist Creative Services Team
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
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.
Liver Dysfunction: Causes and Mechanisms
The Scientist Creative Services Team
Learn about the underlying causes and mechanisms behind liver pathophysiology.
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 Podcast - Episode 7
The Scientist Creative Services Team
Brains in the Palm of your Hand: 3D Organoid Cell Culture
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.
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.