The increased kidney failure risk among patients with monogenic kidney disorders supports genetic testing in routine clinical practice and research on potential new therapies. Patients with monogenic ...

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people ...

The study, titled “Association of IgG4-Related Disease with Human Inborn Errors of Immunity,” involved 18 patients diagnosed with IgG4-RD, all of whom underwent Whole Exome Sequencing (WES) to examine ...

In recent years, advances in molecular genetics have impacted the understanding and the classification of hereditary retinal and optic nerve disease perhaps more than any other group of eye diseases.

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 ...

Within the prior 24 months, I have had a financial relationship with a company producing, marketing, selling, re-selling, or distributing healthcare products used by or on patients: Receive the the ...