Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely ...

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...

The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals ...

In this free webinar, learn how addressing mental health can improve quality of life in the rare disease community. Attendees will gain insight into survey data showing that anxiety, stress and ...

Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

Pitts, a former FDA associate commissioner, is president of the Center for Medicine in the Public Interest and a visiting professor at the University of Paris School of Medicine. Over the summer, the ...

The American Society of Human Genetics (ASHG) will host the Genetic Diagnosis & Rare Disease Virtual Symposium on December 2-3. This initiative ensures that groundbreaking research and clinical ...

Megan Molteni reports on discoveries from the frontiers of genomic medicine, neuroscience, and reproductive tech. She joined STAT in 2021 after covering health and science at WIRED. You can reach ...

For millions living with rare diseases, the road to diagnosis and treatment is often filled with uncertainty. It is also ...