Using AI to improve diagnosis of rare genetic disorders
AIM narrows the differential genetic diagnoses down to a few genes and can potentially guide the discovery of previously unknown disorders.
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genetic diagnosis
Research method finds new use in diagnosis of genetic disorders
This new testing method represents a paradigm shift in laboratory genetics, moving from the traditional DNA-centric approach to one focusing on the patient’s cells.
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A wide spectrum of human neurological diseases linked to variations of one gene, DHX9
This study shows that gene DHX9 is involved in regulating mammalian neurodevelopment and neuronal well-being.
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Research Spotlight: Dr. Fritz Sedlazeck assists in filling gaps in human genome, sequencing Rice University owl genome and more
Research Spotlight highlights contributions of Baylor faculty to their field of interest.
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The discovery of genes like PAX5 improves diagnostic testing for neurodevelopmental disorders, and more
Discovering new genes that are linked to undiagnosed diseases has relevant scientific and clinical consequences as well as important personal implications for patients.
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Researchers make strides identifying genetic causes of rare neurodevelopmental disorders in the Turkish and worldwide populations
A global team of researchers, including researchers from Baylor College of Medicine, worked to find genetic answers for Turkish families.
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Metabolomics meets genomics to improve patient diagnosis
Researchers at Baylor College of Medicine have improved their ability to identify the genetic cause of undiagnosed conditions.
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