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The heart sections on the left present defects while the hearts on the right do not show defects.
Genetic Signatures of a Defective Heart
In a mouse model of Down syndrome, three copies of a gene encoding a kinase contributed to congenital heart defects.
Genetic Signatures of a Defective Heart
Genetic Signatures of a Defective Heart

In a mouse model of Down syndrome, three copies of a gene encoding a kinase contributed to congenital heart defects.

In a mouse model of Down syndrome, three copies of a gene encoding a kinase contributed to congenital heart defects.

genetic disease

Keeping Kidneys Healthy with a Hand from AI
Aparna Nathan, PhD | Dec 11, 2023 | 3 min read
Researchers found new mechanisms and drug targets for cystinosis.
MRI images of brains from patients with epilepsy
Defending against Dravet
Aparna Nathan, PhD | Aug 21, 2023 | 3 min read
Gene therapy may be the first step toward curing a rare genetic epilepsy.
Building Bridges podcast logo
Building Bridges for Translational Research - A Special Podcast Series
The Scientist and Cytiva | 2 min read
Translational scientists discuss their experiences taking preclinical concepts to the market.
Photo of Rosa Bacchetta, associate professor of pediatrics at Stanford University
The Future of Gene Therapy for a Rare Pediatric Autoimmune Disease
Niki Spahich, PhD | Jul 10, 2023 | 3 min read
By editing a mutated immune regulatory gene in patient cells, Rosa Bacchetta brings hope to those suffering from IPEX syndrome.
Researchers in George Church&rsquo;s lab modified wild type ADK proteins (left) in <em >E.coli</em>, furnishing them with an nonstandard amino acid (nsAA) meant to biocontain the resulting bacterial strain.
A Pioneer of The Multiplex Frontier
Rashmi Shivni, Drug Discovery News | May 20, 2023 | 10 min read
George Church is at it again, this time using multiplex gene editing to create virus-proof cells, improve organ transplant success, and protect elephants.
&nbsp;Learn how genetics research identifies new targets for complex disease therapies.
Revealing Gene Functions in Health and Disease
The Scientist and Fortis Life Sciences | 1 min read
Understanding genetic mechanisms that alter cellular pathways.
An excited-looking toddler crawls towards toys while her mother watches on.
Doctors Treat a Rare Genetic Condition Before Patient Is Born
Dan Robitzski | Nov 10, 2022 | 2 min read
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.
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.
genome sequence text on screen&nbsp;
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.
The Scientist Speaks Ep. 16 - At the Breaking Point: Mitochondrial Deletions and the Brain
The Scientist | 1 min read
Researchers characterize large mitochondrial deletions to understand their implications in neurological disorders.
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.
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.
Liver Dysfunction: Causes and Mechanisms
The Scientist | 1 min read
Learn about the underlying causes and mechanisms behind liver pathophysiology.
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.
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.
The Scientist Speaks Podcast - Episode 7
The Scientist | 1 min read
Brains in the Palm of your Hand: 3D Organoid Cell Culture
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.
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