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 intricate mechanisms behind genetic disorders are reshaping how we understand human disease. Inborn errors of immunity (IEIs), a group of monogenic disorders, exemplify this complexity. These ...

Preimplantation genetic testing (PGT) has become commonplace in research during in vitro fertilisation (IVF) procedures. Various PGT methods are utilised to assess blastocysts suitability for ...

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 ...

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.