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genetic disease

MRI images of brains from patients with epilepsy

Aparna Nathan, PhD | Aug 21, 2023 | 3 min read

Gene therapy may be the first step toward curing a rare genetic epilepsy.

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.

Building Bridges for Translational Research - A Special Podcast Series

The Scientist’s Creative Services Team and Cytiva | 2 min read

Translational scientists discuss their experiences taking preclinical concepts to the market.

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.

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.

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.

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.

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.

Harnessing Stem Cells to Model Neurological Disorders

The Scientist’s Creative Services Team | 2 min read

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.

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.

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.

Liver Dysfunction: Causes and Mechanisms

The Scientist’s Creative Services Team | 1 min read

Learn about the underlying causes and mechanisms behind liver pathophysiology.

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.