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.
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.
Streamlining Viral Gene Therapy Development
The Scientist and Charles River Laboratories, Inc. | 3 min read
Off-the-shelf and custom plasmid DNA and viral vector products help scientists take their gene therapy research to the next level.
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.
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.
Catch Me If You Can: Sequencing Screens for Rare Disease Genes
The Scientist | 1 min read
As a trailblazer in rare disease research and treatment, Wendy Chung captures the big picture of rare disease genetics with the help of next generation sequencing.
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.
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.
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.
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.
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.
Revealing Gene Functions in Health and Disease
The Scientist and Fortis Life Sciences | 1 min read
Understanding genetic mechanisms that alter cellular pathways.
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.
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.
Harnessing Stem Cells to Model Neurological Disorders
The Scientist | 2 min read
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.
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 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.
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.