National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. This approach contrasts with the typical phenotype-first approach to clinical research, ...
Jan 5, 2023
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Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) ...
Dec 16, 2022
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Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, researchers from Germany and the ...
Dec 1, 2022
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A new study from the University of Helsinki demonstrates the added value of genetic information in measuring inherited disease risk, alongside the widely used assessment of family history.
Nov 8, 2022
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A national platform for diagnostic laboratories to share genetic evidence and build consistent interpretations of that information is paving the way for more accurate diagnosis of patient conditions.
Nov 4, 2022
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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A team of researchers affiliated with several institutions in Australia and the U.K. has found evidence that suggests one type of epilepsy people carry today can be traced back to a mutation that occurred in a single person ...
Less than 2% of the human genome is made up of genes that code for proteins, with the remaining 98% being non-coding and involved in regulating gene expression. Scientists have found many changes in the coding region of the ...
Oct 25, 2022
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An Undiagnosed Diseases Network (UDN) study led by Dr. Hugo Bellen, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children's Hospital and distinguished service professor at the Baylor ...
Oct 4, 2022
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Rady Children's Institute for Genomic Medicine (RCIGM) today announced the publication of a study in the American Journal of Human Genetics (AJHG) describing a scalable prototype for newborn screening (NBS) that includes ...
Aug 24, 2022
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