Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly assessing a comprehensive ...
Sep 14, 2023
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Researchers investigated the relationship between historical traumatic events experienced by Alaska Native communities and epigenetic markers on genes that previous studies have linked to trauma. The new study found a similar ...
Sep 7, 2023
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Northwestern Medicine scientists have revealed how a gene considered essential for histone modification regulates skin development, according to a recent study published in Nature Communications.
Sep 6, 2023
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Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature.
Aug 9, 2023
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Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can ...
Jul 21, 2023
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Investigators from Cedars-Sinai have provided new understanding of how diabetes delays wound healing in the eye, identifying for the first time two related disease-associated changes to the cornea.
Jul 19, 2023
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An estimated 16 million people in the United States have alcohol use disorders (AUDs), according to the National Institutes on Alcohol Abuse and Alcoholism (NIAAA). Now, Indiana University researchers have made a substantial ...
Jul 17, 2023
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A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible ...
Jul 13, 2023
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Systemic lupus erythematosus (SLE) is a typical autoimmune rheumatic disease. This multifactorial condition results from a combination of multiple genetic and acquired factors. Human leukocyte antigen (HLA), which is responsible ...
Jul 5, 2023
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Researchers at The University of Texas MD Anderson Cancer have engineered a new model of aggressive renal cell carcinoma (RCC), highlighting molecular targets and genomic events that trigger chromosomal instability and drive ...
Jun 26, 2023
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