The Recommended Uniform Screening Panel now includes DMD and MLD, which has implications for firms developing treatments for ...

A global research team co-led by VCU expert Kenneth Kendler has produced the most comprehensive genetic map so far, identifying five families of disorders that show a high degree of overlap. An intern ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

An analysis of DNA from millions of individuals has identified shared genetic pathways across psychiatric disorders, findings ...

At the genomic level, the researchers identified over 100 regions of the genome where genetic variants influence multiple disorders simultaneously. One region on chromosome 11 stood out as a "hotspot, ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate ...

An international collective of researchers is delivering new insights into why having multiple psychiatric disorders is the norm rather than the exception. In a study published today in the journal ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and ...

This year saw notable progress in head and neck cancers, Huntington's disease, personalized genetic therapy, and heart ...