9/28/2023 0 Comments Yale skull and bones redditWhen they sequenced the participants' protein-coding genes, or exomes, mutations in one gene, SMAD6, caught their attention. Clearly, they thought, something more than simple dominant or recessive inheritance was at play. Read Next: Brain power: Gene critical for human brain development identifiedīy plotting out the inheritance of the disorder through the families, the team noticed that it showed up unpredictably within them. First author Andrew Timberlake, an MD-PhD student in Lifton's lab at Yale, used social media to recruit many of the 191 families who participated in this study. ![]() Midline craniosynostosis occurs when the suture in front of or behind the soft spot atop a baby's skull closes early, producing a ridge or other distortions and, in some cases, neurological problems. As such, this disorder is a unique example of how an interaction between genes can contribute to disease. He and his team at Yale, including John Persing and colleagues in the Section of Plastic and Reconstructive Surgery, found that rare mutations in one gene collaborate with common variants near a second to cause midline craniosynostosis. "While this discovery will immediately help us diagnose and counsel patients, it also has much broader relevance for understanding the genetics of complex traits, including many human diseases," says Lifton, who is head of Rockefeller's Laboratory of Human Genetics and Genomics and was a Howard Hughes Medical Institute investigator prior to moving to Rockefeller. Lifton, then at Yale University, has identified mutations responsible for a type of craniosynostosis that affects the suture running along the top of the skull. See Also: Researchers observe brain development in uteroĪ research team led by Rockefeller University President Richard P. Variants of this disorder can produce facial and skull deformities, and put potentially damaging constraints on a young brain. But sometimes, the loosely connected plates of a baby's skull fuse too early, a disorder known as craniosynostosis. ![]() During the first year of life, the human brain doubles in size, and continues growing through adolescence.
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