ADVERTISEMENT
An excited-looking toddler crawls towards toys while her mother watches on.
Doctors Treat a Rare Genetic Condition Before Patient Is Born
Thanks to continued weekly medications, a 16-month-old girl shows no symptoms of a severe genetic disease that typically kills children before they turn two.
Doctors Treat a Rare Genetic Condition Before Patient Is Born
Doctors Treat a Rare Genetic Condition Before Patient Is Born

Thanks to continued weekly medications, a 16-month-old girl shows no symptoms of a severe genetic disease that typically kills children before they turn two.

Thanks to continued weekly medications, a 16-month-old girl shows no symptoms of a severe genetic disease that typically kills children before they turn two.

genetic disease
Colorful DNA strands
Scans of Sundry Variant Types Uncover Autism-Linked Genes
Chloe Williams, Spectrum | Aug 19, 2022 | 5 min read
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.
A twisted and folded illustration of single-stranded RNA in front of a blue background.
Deficient RNA Editing Implicated in Inflammatory Disease 
Alejandra Manjarrez, PhD | Aug 5, 2022 | 3 min read
Genetic variants that reduce the editing levels of double-stranded RNA are associated with autoimmune and immune-mediated conditions, a study finds.
 Learn how genetics research identifies new targets for complex disease therapies.
Revealing Gene Functions in Health and Disease
The Scientist’s Creative Services Team and Fortis Life Sciences | 1 min read
Understanding genetic mechanisms that alter cellular pathways.
genome sequence text on screen 
Q&A: Whole Genomes of 150,000 Britons Reveal Novel Genetic Variants
Sophie Fessl, PhD | Aug 5, 2022 | 5 min read
Height and onset of menarche are among traits linked to previously unidentified genetic variants in noncoding regions of the human genome.
Leon Rosenberg in a grey sports coat
Physician and Geneticist Leon Rosenberg Dies at 89
Andy Carstens | Aug 3, 2022 | 3 min read
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.
Harnessing Stem Cells to Model Neurological Disorders
The Scientist’s Creative Services Team | 2 min read
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 | 4 min read
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.
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 | 5 min read
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.
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist’s Creative Services Team | 1 min read
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
An orange CRISPR Cas 9 enzyme cutting DNA
CRISPR-Based Treatment Successfully Lowers Toxic Protein Levels
Natalia Mesa, PhD | Mar 2, 2022 | 3 min read
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.
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 | 6 min read
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.
Liver Dysfunction: Causes and Mechanisms
The Scientist’s Creative Services Team | 1 min read
Learn about the underlying causes and mechanisms behind liver pathophysiology.
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 | 2 min read
He famously identified the genetic mutation that causes the condition in 1991.
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, PhD | Aug 18, 2021 | 3 min read
RNA-DNA complexes that were modified with cholesterol made it into the brains of rats and mice, where they knocked down target genes.
The Scientist Speaks Podcast - Episode 7
The Scientist’s Creative Services Team | 1 min read
Brains in the Palm of your Hand: 3D Organoid Cell Culture
cartoon image of a brain against a black background
Humans Can Survive Without Key Autophagy Gene
Annie Melchor | Jul 19, 2021 | 4 min read
Loss of the protein ATG7 is fatal in mice, but not always for people—although it is linked to human neurodevelopmental disorders, researchers report.
Gene Therapy in One Eye Improves Vision in Both Eyes
Abby Olena, PhD | Dec 11, 2020 | 4 min read
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 | 5 min read
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 | 3 min read
Trophoblasts, collected from the mother during a blood draw, can determine fetal genetic abnormalities currently diagnosed through amniocentesis or chorionic villi sampling.
ADVERTISEMENT