Overcoming previous technical challenges with single-cell DNA (scDNA) sequencing, a group led by researchers at The University of Texas MD Anderson Cancer Center has developed
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SARS-CoV-2, the virus that causes COVID-19, impacts people in different ways after infection. Some experience only mild or no symptoms at all while others become
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Newborns who are diagnosed with phenylalanine hydroxylase deficiency may show no initial symptoms or signs. Over time they may develop symptoms of phenylalanine build-up in
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There are many different types of Charcot-Marie-Tooth disease (CMT), which are classified according to the gene mutation that causes the disease. The main types (CMT1,
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PKU or Phenylketonuria is a genetically inherited condition. PKU occurs due to the lack of an enzyme called phenylalanine hydroxylase. This enzyme is a protein.
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Most cases of Moebius syndrome are spontaneous, with no family history and no known genetic cause. In certain rare cases, the disorder has been associated
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Skip to: The Genetics that Underpin Trisomy X Manifestations of Trisomy X Diagnosing Chromosomal Abnormalities in Females Triple X syndrome, also known as 47, XXX,
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Researchers from Children’s Hospital of Philadelphia (CHOP) have demonstrated that newly mutated variants of a key protein involved in supporting chromosomes result in several issues
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