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!
New findings help to better calculate the oceans’ contribution to climate regulation
14.11.2018 | Jacobs University Bremen gGmbH
How algae and carbon fibers could sustainably reduce the athmospheric carbon dioxide concentration
14.11.2018 | Technische Universität München
Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.
Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...
Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.
In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...
On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.
When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure
Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...
Physicists at ETH Zurich demonstrate how errors that occur during the manipulation of quantum system can be monitored and corrected on the fly
The field of quantum computation has seen tremendous progress in recent years. Bit by bit, quantum devices start to challenge conventional computers, at least...
09.11.2018 | Event News
06.11.2018 | Event News
23.10.2018 | Event News
14.11.2018 | Materials Sciences
14.11.2018 | Health and Medicine
14.11.2018 | Life Sciences