Lupski-Led Analysis of Rare Genetic Variants (SNVs and CNVs) in Mendelian Neurogenetic Disorders Identifies Genes That Affect Brain Structure & Function

Like the delicate strokes of the painter’s brush, genes and the epigenetics that regulate them guide the formation of the complicated architecture of the human brain. The result is a marvel of biology, able to learn and to create, while controlling the most basic functions of the body. However, when the genes do not work well or the epigenetic mechanisms are out of alignment, the result is often a devastating genetic disorder, sometimes coupled with a brain malformation. In a news study published in the November 4, 2015 issue of Neuron, an international team of researchers led by James Lupski (photo), M.D., Ph.D., at the Baylor College of Medicine in Houston, Texas, and including a large group of Turkish medical professionals, evaluated the genetics underlying such brain disorders and malformations. The Neuron article is titled “Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.” In their newly reported work, the researchers found variants of genes already known to cause brain disorders and malformations, and they also identified new mutations in genes not previously known to be involved in such problems. In addition, they identified structural deviations such as the duplications or deletions known as copy number variations (CNVs) in different chromosomes. “Human brain development is a precisely orchestrated process requiring multiple genetic and epigenetic events,” said Dr. Lupski, the Cullen Professor of Molecular and Human Genetics at Baylor College of Medicine and the senior and corresponding author of the Neuron article. Dr.
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