Latest Mutation Stories
A five-country international team, led by Casey Eye Institute Molecular Diagnostic laboratory, BGI and Zhejiang University School of Medicine First Affiliated Hospital identified the NMNAT1 mutations as a cause of Leber congenital amaurosis (LCA), one of the most common causes of inherited blindness in children.
Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness.
A new genetic mutation that causes familial amyotrophic lateral sclerosis (ALS), a fatal neurological disorder also known as Lou Gehrig's Disease, has been identified by a team of scientists led by researchers at the University of Massachusetts Medical School (UMMS).
Researchers at Emory University School of Medicine have identified five rare mutations in a single gene that appear to increase the chances that a boy will develop an autism spectrum disorder (ASD).
Listed below are the selected highlights for the July 2012 issue of the Genetics Society of America's journal, Genetics.
Cancers are age-related, much more frequent in the old than in the young.
Using a human induced pluripotent stem cell (iPSC) from a patient suffering from Huntington’s disease, researchers at the Buck Institute for Research on Aging have corrected the genetic mutation that is responsible for the disease.
Frequency-dependent selection fosters the diversity of populations but does not always increase the average fitness of the population.
Discovery could help lead to prevention of radical surgery in rare childhood disease
UCLA researchers have combined two tools – gene expression and the use of peripheral blood -- to expand scientists' arsenal of methods for pinpointing genes that play a role in autism.
- An imitative word; an onomatopoetic word.