Catch Me If You Can: Sequencing Screens for Rare Disease Genes
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.
Catch Me If You Can: Sequencing Screens for Rare Disease Genes
Catch Me If You Can: Sequencing Screens for Rare Disease Genes
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.