Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Bayer has discontinued an early-stage clinical gene therapy for a rare genetic disorder in favor of a similar candidate. | Bayer has discontinued an early-stage clinical gene therapy for a rare ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 The funding sources did not play a role ...

A team led by University of Pittsburgh School of Public Health geneticists has shown, for the first time, that a gene "silencer" that resides in junk DNA is directly sparing people from a devastating ...

This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of rare kidney diseases by providing educational resources. An autoimmune ...

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine ...

Early diagnosis of rare diseases in children can significantly improve treatment outcomes and quality of life. Learn symptoms, challenges, and why early detection is crucial for managing pediatric ...

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...