Less than 30% of people with certain genetic variants go blind, despite the faulty genes previously being thought to cause ...

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

Mendelian (or, monogenic) disorders like sickle cell anaemia or cystic fibrosis occur due to mutations in a single gene. While there are currently over 7,000 known Mendelian disorders, many lack ...

Rare Disease Mendelian Disorders are genetic conditions resulting from alterations in a single gene, following Mendel's laws of inheritance. These disorders can affect any system in the body and ...

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 ...

Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...

Gregor Mendel discovered fundamental rules of genetics by raising pea plants. He realized that hidden factors — we now know them to be genes — were passed down from parents to offspring. It wasn’t ...

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 ...