Germline testing is a genetic screening that looks for inherited gene mutations found in every cell.  It can identify ...

VIENNA — Advances in genetic testing and newly discovered biomarkers can help screen newborns and monitor inflammation and pulmonary exacerbations in patients diagnosed with cystic fibrosis. At the ...

Hereditary cancer is caused by germline mutations, typically following an inheritance pattern within a family. In contrast, sporadic cancer is caused by somatic mutations interacting with ...

Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

As genetic sequencing technology becomes more accessible and efficient, researchers have made significant strides in understanding the genetic underpinnings of various diseases. This knowledge has led ...

Genetic testing analyzes a person's DNA to determine their risk for certain diseases. It was a game-changer for one Montgomery County woman. Genetic testing is a simple mouth swab that can uncover ...

Rare diseases are hard to diagnose and often require costly genetic testing and visits to specialists. The testing can be hard to access, especially for people who live in rural areas. Researchers at ...

Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare disease. Of the 7,000 known RD conditions, 80% have a genetic origin, yet over ...

The treatment of clinical depression presents unique challenges, with many patients voicing concerns that echo a disheartening struggle: "I have tried every medication for depression, and nothing ...

People often remark that allergies run in their family, but the genetic causes have remained unclear. Previous food allergy genetic research has relied upon broad but surface-level methods called ...