A lifesaving revolution delayed

• Published in: Nature genetics Vol. 56; no. 12; p. 2579
• Main Author: Liebman, Susan Weiss
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2024; Nature Publishing Group
• Subjects: 631/208/1516/1510; 692/700/459/1748; Agriculture; Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cardiomyopathy; Cardiovascular disease; Gene Function; Genetic counseling; Genetic testing; Genetics; Genomes; Genomics; Heart; Human Genetics; Inflammatory bowel diseases; Jewish people; Medical research; Minority & ethnic groups; Mutation; Turning Points; United States > US
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/s41588-024-02013-0

[...]she found a splice site mutation in my sister's FLNC gene, which encodes filamin C, and proposed that it was the cause of my family's illness1. Using personal correspondence with FLNC researchers"? and the Inflammatory Bowel Disease DNA database", I learned that this variant...