MeSH tree: E05.393.760.700.825.500
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by the progressive degeneration of motor neurons, leading to muscle weakness and eventually death. While significant strides have ...
Feb 18, 2025
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Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the population, the influence ...
Sep 25, 2024
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The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example, by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination ...
Jul 22, 2024
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Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center have shown in two independent patient cohorts when a genome sequencing is beneficial in the diagnosis ...
Jun 7, 2024
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50
Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using artificial intelligence. The ...
Apr 25, 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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50
In an article published in the Journal of Pediatrics, researchers based in Brazil describe the case of a nine-year-old boy admitted to hospital with multiple symptoms and overlapping conditions that made diagnosis difficult, ...
Feb 19, 2024
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29
The Association for Molecular Pathology (AMP) today published a report that explores specific considerations for a slice testing strategy for diagnostics, including gene selection, analytic performance, coverage, quality, ...
Dec 20, 2023
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A Mayo Clinic study published in Journal of Translational Medicine has evaluated the use of genomic testing broadly for rare diseases. With the increased use of genomic testing such as multi-gene panels, exome sequencing ...
Jun 26, 2023
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Sudden, unexplained child mortality is a tragedy; determining the cause of death is important for improving healthcare and providing loved ones with closure. Now, researchers from Japan have reported the use of an advanced ...
Apr 27, 2023
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