Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published ...
May 31, 2024
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Cardiovascular diseases, including stroke and coronary artery disease are among the leading causes of death worldwide. Classical risk factors include age, personal lifestyle, and pre-existing conditions, but genetic predisposition ...
May 22, 2024
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Researchers say a machine learning tool can identify many patients with rare, undiagnosed diseases years earlier than current methods, potentially improving outcomes and reducing cost and morbidity. The findings, led by researchers ...
May 1, 2024
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A new study led by Indiana University School of Medicine researchers has found that a brain network condition called "explosive synchronization" could be the cause of extreme pain crises in people with sickle cell disease.
Apr 24, 2024
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Inside the brains of people with psychosis, two key systems are malfunctioning: a "filter" that directs attention toward important external events and internal thoughts, and a "predictor" composed of pathways that anticipate ...
Apr 11, 2024
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Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression, it is important to understand how they may alter gene regulation of disease genes ...
Apr 9, 2024
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Within our brain cells, there exists a highway system of tube-like structures called microtubules. They give the cell structure and help transport nutrients and other important substances from one part of the nerve cells ...
Jan 16, 2024
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Every human's genome has millions of genetic variants, but most have little to no effect, making it difficult for clinicians to make medical diagnoses based on genetic differences.
Dec 7, 2023
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Many hidden genetic variations can be detected with Chameleolyser, a new method developed in Nijmegen. The information is already yielding new patient diagnoses and may also lead to the discovery of as yet unknown disease ...
Nov 1, 2023
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Infertility can have genetic causes, but pinpointing the culprit mutations is difficult because fertility and reproduction are controlled by many genes. These genes also carry many harmless but suspicious mutations in different ...
Aug 25, 2023
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