New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

A blood test clarifies which gene variants truly cause congenital heart defects, linking diagnosis to more precise ...

MINNEAPOLIS — By definition, a variant of unknown significance identified in an individual with cardiomyopathy can leave physicians wondering what to do with the information. Don’t discard so-called ...

At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like ...

Genetic testing identifies germline mutations, while genomic testing analyzes somatic mutations in tumors, influencing treatment options. Broader testing criteria are expanding access to genetic ...

The reasons why people have such varied experiences has been unclear, though new research from the 23andMe genetic testing ...

PlexusDx launches the first dedicated at-home genetic test for peptide biology, covering 14 pathways, 49 peptides, and ...

Please provide your email address to receive an email when new articles are posted on . Search engines and chatbots are easy to use. Databases such as gnomAD and ClinVar are comprehensive but come ...

Me Research Institute, a nonprofit medical research organization, announced the publication of a study that identifies ...

For more than four decades, in vitro fertilization (IVF) has helped families have children. Scientists estimate that more than 10 million people worldwide have been born through IVF and related ...

Forbes contributors publish independent expert analyses and insights. Ellen Matloff covers genetic counseling, testing and digital health. Why? We all carry 2 copies of a gene called DPYD that makes a ...