A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering ...

Corina and Destiny lost their first child, Ahi o Te Aroha, at six months old. Although genetic testing identified a variant ...

Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research ...

Decades of cancer research at Fred Hutch Cancer Center have given our scientists a deep understanding of other diseases — unrelated to cancer — that are also the result of genetic flaws. Our research ...

There have been some intriguing clues, but more research will help doctors fully understand the genetic links in the disease. Genes are the basic building blocks that direct almost every aspect of ...

The University of Alabama at Birmingham has special expertise in the evaluation and management of Rare Genetic Kidney disease. This clinic started due to a specific Rare Genetic Kidney disease called ...

Of the 140 million babies born worldwide each year, 6-8% are at risk for hereditary genetic diseases. Amniocentesis is considered the gold standard for detecting fetal genetic risks with high accuracy ...

Lucy Landman was born with a very rare genetic disorder that causes severe ... to change that by raising money to research single-gene disorders like her daughter's. One day, while out fundraising ...

Researchers from Mass General Brigham, Harvard Medical School and Duke University School of Medicine have identified nearly 300 genetic disorders ... fetal findings list" could improve the ...