Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...
Jan 18, 2018
0
837
(Medical Xpress)—A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San ...
Sep 15, 2014
0
0
An international team of researchers led by UC Davis geneticist Suma Shankar has discovered a new gene implicated in a neurodevelopmental condition called DPH5-related diphthamide-deficiency syndrome. The syndrome is caused ...
Jul 12, 2022
0
99
Thanks to the sequencing of the human genome, scientists can now discover potential disorders for which there are no known patients. One such disorder is MPS III-E, originally also called Dierks's disorder after its discoverer. ...
Jan 8, 2018
1
502
New research by the Murdoch Children's Research Institute (MCRI) has shown that the combined affected pregnancy rate of cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA) is comparable to the ...
Nov 9, 2017
0
1
Down syndrome is the most common chromosomal abnormality in humans, involving a third copy of all or part of chromosome 21. In addition to intellectual disability, individuals with Down syndrome have a high risk of congenital ...
Oct 24, 2014
0
0
When Shayla Haddock was born in 1997, her parents immediately realized something was wrong. The sixth of seven children, Shayla had unusual facial features. She had club feet and shorter-than-normal limbs. She was smaller ...
Aug 15, 2016
0
1
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up.
Aug 17, 2018
0
115
Around one in 500 men could be carrying an extra X or Y chromosome—most of them unaware—putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis, say researchers at the universities ...
Jun 10, 2022
0
127
Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation ...
Apr 29, 2016
0
4
