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The intersection of big data and genomics
From The Labs

A wide spectrum of human neurological diseases linked to variations of one gene, DHX9

July 25, 2023 DHX9,  genetic diagnosis,  Genome Sequencing,  genomic variation,  neurological disease,  neuropathy,  Research,  undiagnosed disease

This study shows that gene DHX9 is involved in regulating mammalian neurodevelopment and neuronal well-being.

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From The Labs

Variants of MRTFB gene linked to novel neurodevelopmental disorder

May 9, 2023 actin-binding protein,  fruit fly,  MRTFB gene,  neurodevelopmental disorder,  Research,  undiagnosed disease

The findings open new avenues to investigate mechanisms that lead to this disorder, offering ideas toward a future treatment for the disease.

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From The Labs

Metabolomics meets genomics to improve patient diagnosis

July 7, 2020 genetic diagnosis,  Genomics,  metabolomics,  Research,  undiagnosed disease

Researchers at Baylor College of Medicine have improved their ability to identify the genetic cause of undiagnosed conditions.

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From the Labs: Image of the Month

Blood vessels (magenta) intertwined with metastatic medulloblastoma tumor cells (green) nestled within the protective layers that surround the mouse spinal cord. From the Labs: a closer look at metastatic medulloblastoma

Healthy Habits: A DOC-umentary Series

https://www.youtube.com/watch?v=SlNiMWHUhbc

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