Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these mutations trigger complex, ...
Feb 2, 2026
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Research into parental support needs is informing Cambridge Children's Hospital's commitment to provide a "whole family" approach to care.
Dec 1, 2025
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A study led by the Research Institute of the McGill University Health Center (The Institute) has identified a rare genetic variant in the ODAD4 gene that causes primary ciliary dyskinesia (PCD), a chronic hereditary disorder ...
Nov 28, 2025
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Researchers examined health care challenges faced by adult adoptees and how being adopted affects relationships with their clinicians. U.S. adult adoptees completed a mixed-methods online survey. A total of 204 participants ...
Nov 25, 2025
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New Cleveland Clinic research reveals that up to 5% of Americans—approximately 17 million people—carry genetic mutations or "variants" linked to increased cancer susceptibility, regardless of risk factors like personal or ...
Oct 27, 2025
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Researchers at Texas Children's Neurological Research Institute (NRI) and Baylor College of Medicine have developed a powerful new tool within the Genome Aggregation Database (gnomAD) to sharpen the accuracy of genetic testing—a ...
Oct 6, 2025
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A new international study led by Mayo Clinic researchers has identified a genetic factor that may explain why some patients with colorectal cancer that has spread to the liver experience more severe liver damage after chemotherapy.
Sep 29, 2025
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Mayo Clinic researchers have developed a genetic test that can help predict how people will respond to weight loss medications such as GLP-1s.
Sep 18, 2025
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A new study has found that trust in researchers is the strongest factor influencing whether older adults are willing to participate in Alzheimer's disease and related dementia (ADRD) biomarker research. In a survey of 399 ...
Sep 15, 2025
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Researchers from Children's Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, ...
Aug 13, 2025
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