Latest Copy number variation Stories
People who have duplications in a region of chromosome 16 (16p13.1) that is present in approximately 1 in 1000 individuals have a 12-fold increased risk of thoracic aortic aneurysms leading to a tear in the aorta, or acute aortic dissections.
Three papers being published on June 9 in the journal Neuron provide new insight into the diversity of genetic abnormalities that contribute to autism.
New research on the genomics of autism confirms that the genetic roots of the disorder are highly complicated, but that common biological themes underlie this complexity.
Scientists are eyeing a rare genetic glitch for clues to improved treatments for some people with schizophrenia â€“ even though they found the mutation in only one third of 1 percent of patients.
In a major advance for schizophrenia research, an international team of scientists led by the University of California, San Diego School of Medicine and involving Trinity College Dublin researchers has identified a gene mutation strongly linked to schizophrenia that may be an important new target for the development of drug therapies.
In a major advance for schizophrenia research, an international team of scientists, led by Jonathan Sebat, PhD, assistant professor of psychiatry and cellular and molecular medicine at the University of California, San Diego School of Medicine, has identified a gene mutation strongly linked to the brain disorder â€“ and a signaling pathway that may be treatable with existing compounds.
Advances in DNA sequencing technology have revolutionized biomedical research and taken us another step forward in personalized medicine.
When the body can't distinguish its right side from its left during development, a child can develop a condition called heterotaxy in which the heart is severely malformed, leading to congenital heart disease.
A multinational team of researchers led by stem cell scientists at the University of California, San Diego School of Medicine and Scripps Research Institute has documented specific genetic abnormalities that occur in human embryonic (hESC) and induced pluripotent stem cell (iPSC) lines.
A large genetic study of people with major depression has found that a duplicated region of DNA on chromosome 5 predisposes people to the disorder.