Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.
Diagnosing the genetic cause of a disease can aid in finding therapies and directing treatment, but often these diagnoses occur long after the disease has impacted a patient's life. In a new study, researchers from Children's ...
Jul 31, 2024
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Researchers at London Health Sciences Centre (LHSC) and Lawson Health Research Institute are using advanced technology and artificial intelligence (AI) to diagnose rare diseases and prenatal exposure-related birth abnormalities ...
Jul 31, 2024
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Women treated for ovarian cancer caused by an inherited faulty gene have a lower risk of developing breast cancer following that treatment, new research from Manchester University NHS Foundation Trust (MFT) and The University ...
Jul 25, 2024
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In a recent study, a Yale-led research team described for the first time a rare neurodevelopmental syndrome that begins affecting patients during infancy and typically causes developmental delays, severe seizures, cardiac ...
Jun 25, 2024
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Genetic testing is not yet a standard component of workplace wellness programs, but what if it were? Researchers at The Jackson Laboratory and the University of Michigan aim to answer this question, and to consider the ethical ...
Jun 21, 2024
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TRAF7 syndrome, or CAFDADD syndrome, is a neurological and developmental disease that causes a wide variety of clinical manifestations, such as cardiac, facial and digital abnormalities and developmental delay.
Apr 30, 2024
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A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk ...
Apr 2, 2024
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A single genetic test could potentially replace the current two-step approach to diagnosing rare developmental disorders in children. This shift could enable earlier diagnoses for families and save the NHS vital resources.
Mar 28, 2024
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A new study led by investigators from Massachusetts General Hospital assesses for the first time the quality of daily life for people with Down syndrome (DS) in 50 countries around the world.
Mar 22, 2024
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Should we be using polygenic risk score assessment for embryo selection? Providing in-depth analysis, the Social, Ethical and Legal Issues Committee of the American College of Medical Genetics and Genomics (ACMG) has released ...
Feb 23, 2024
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