A collaborative team of scientists led by Mayo Clinic's Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder ...
Jun 21, 2022
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547
The diagnosis is rare, but devastating—children with congenital muscle disorders often never learn to walk. Until now, there was no chance of recovery, but researchers at the University of Basel and University Hospital ...
Mar 29, 2022
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7
Mount Sinai researchers have developed a new model that uses DNA and RNA sequencing data from hundreds of patients to identify specific genes and genetic alterations responsible for never-before-defined subtypes of a blood ...
Nov 17, 2021
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70
At the earliest stages of human embryonic development, a small collection of cells known as human embryonic stem cells (hESCs) orchestrates growth and differentiation, eventually giving rise to highly specialized human tissues. ...
Oct 28, 2021
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No two human beings are the same, a biologic singularity encoded in the unique arrangement of the molecules that make up our individual DNA.Â
Oct 27, 2021
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51
Researchers have identified a molecular mechanism that drives the progression of uveal melanoma (UM), an often lethal eye cancer in adults.
Sep 13, 2021
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93
Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of lung disease characterized by relentless scarring leading to death within an average of four years from the time of diagnosis. The poorly understood ...
Aug 31, 2021
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24
Exposure to a traumatic experience can lead to post-traumatic stress disorder (PTSD), an incapacitating disorder in susceptible persons with no reliable therapy. Particularly puzzling is understanding how transient exposure ...
Aug 4, 2021
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488
Researchers have identified gene alterations that drive a subset of acute leukemias in children and adults. These leukemias previously defied classification, making diagnosis and treatment challenging. Investigators at St. ...
Jun 21, 2021
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Researchers developed a prototype for a new cancer immunotherapy that uses engineered T cells to target a genetic alteration common among all cancers. The approach, which stimulates an immune response against cells that are ...
Mar 15, 2021
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