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 ...

For many facing a cancer diagnosis, the "why" can be the most elusive piece of the puzzle. When Lauren Yerkes was diagnosed ...

Sidra Medicine, a member of Qatar Foundation, has highlighted the real-world impact of precision medicine on a six-year-old patient with a rare genetic condition. Marking Rare Disease Day observed ...

An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing. The study, conducted ...

A team of researchers led by Columbia University Vagelos College of Physicians and Surgeons has been awarded an up to two-year $8.7 million contract from the Advanced Research Projects Agency for ...

For Lisa Hawker, getting a diagnosis of her daughter Jaydi's rare genetic condition was life-saving. Jaydi has a rare form of dwarfism which affects around 50 known people across the world. Her early ...

More than 500 European patients with previously undiagnosed rare disorders received a genetic diagnosis through research carried out by an extensive European collaboration, the Solve-Rare Diseases ...

Exclusive: One in four wait at least three years for diagnosis and many face treatment ‘access lottery’, according to report ...

Genetic tests for Alzheimer’s can detect specific genes linked to the disease. In most cases, they can’t definitively confirm or predict a diagnosis, but they can provide insight into your relative ...

Researchers have found that motor delay and low muscle tone were common signs of an underlying genetic diagnosis in children with neurodevelopment disorders. In a new study, UCLA Health researchers ...