Mayo Clinic researchers have identified a genetic syndrome -- an inherited birth disorder characterized by learning disabilities, facial malformations, impaired organs and mental retardation. It has been previously misdiagnosed or undiagnosed.
Researchers also discovered the syndromes genetic basis: a rearrangement of DNA called "microduplication." When microduplication occurs, DNA segments are repeated and this causes a surplus of genes. Microduplication is a little-studied mechanism underlying the origin of human diseases, and Mayo Clinic researchers are in the forefront of scientists producing evidence for its impact. Their work is made possible by the February 2001 completion of the federal Human Genome Project, the mapping of all the major genes in the human body. It has produced a database that describes the DNA sequences of the entire human complement of genes, which is estimated to be around 30,000 genes. The Mayo Clinic research, "Microduplication 22q11.2: An Emerging Syndrome," appears in the November American Journal of Human Genetics (73:1027-40)
Bob Nellis | EurekAlert!
MicroRNA helps cancer evade immune system
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Ruby: Jacobs University scientists are collaborating in the development of a new type of chocolate
18.09.2017 | Jacobs University Bremen gGmbH
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
For the first time, physicists have successfully imaged spiral magnetic ordering in a multiferroic material. These materials are considered highly promising candidates for future data storage media. The researchers were able to prove their findings using unique quantum sensors that were developed at Basel University and that can analyze electromagnetic fields on the nanometer scale. The results – obtained by scientists from the University of Basel’s Department of Physics, the Swiss Nanoscience Institute, the University of Montpellier and several laboratories from University Paris-Saclay – were recently published in the journal Nature.
Multiferroics are materials that simultaneously react to electric and magnetic fields. These two properties are rarely found together, and their combined...
MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems Holding GmbH about commercial use of a multi-well tissue plate for automated and reliable tissue engineering & drug testing.
MBM ScienceBridge GmbH successfully negotiated a license agreement between University Medical Center Göttingen (UMG) and the biotech company Tissue Systems...
Pathogenic bacteria are becoming resistant to common antibiotics to an ever increasing degree. One of the most difficult germs is Pseudomonas aeruginosa, a...
Scientists from the MPI for Chemical Energy Conversion report in the first issue of the new journal JOULE.
Cell Press has just released the first issue of Joule, a new journal dedicated to sustainable energy research. In this issue James Birrell, Olaf Rüdiger,...
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