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 ...
New review highlights evolving Pompe disease management, from screening to next-generation therapies and monitoring. Read ...
Recent proteomic studies have offered glimpses into the biology of early Alzheimer’s disease. Two new preprints take this approach further, describing high-throughput surveys that turned up numerous ...
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 ...
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 ...
"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.
Retex Pharmaceuticals Inc. has patented vasopressin V2 receptor antagonists potentially useful for the treatment of hyponatremia, cardiovascular disorders, autosomal dominant and autosomal recessive ...
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 ...
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