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.

Please provide your email address to receive an email when new articles are posted on . Overall, 2.9% of adults with kidney stones had Mendelian disease, the study showed. Of kidney stone formers, 8.1 ...

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 ...

Increased BMI and IBD have causal effects on the risk of hidradenitis suppurativa, as shown by Mendelian randomization ...

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 ...

Traditional epidemiological studies have identified numerous potential risk factors, but observational studies have struggled to establish causal links due to confounding factors and reverse causation ...

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 ...

We study rare childhood diseases using medical genetics, genomics, and Drosophila models. Understand the underlying mechanisms of Mendelian disease. Clinical and genetic aspects of rare human disease ...

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 ...