Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes - providing new insights into their causes, and new recommendations for genetic testing.
May 4, 2017
0
1
An algorithm developed by Saudi Arabia's King Abdullah University of Science and Technology (KAUST) scientists has the potential to help patients with mysterious ailments find genetic causes for their undiagnosed diseases.
Apr 26, 2017
0
0
The news release Monday morning grabbed my attention:
Apr 21, 2017
0
2
Whole-exome DNA sequencing—a technology that saves time and money by sequencing only protein-coding regions and not the entire genome—may routinely miss detecting some genetic variations associated with disease, according ...
Apr 21, 2017
0
84
Researchers from the European Bioinformatics Institute (EMBL-EBI), University of Cambridge, the Wellcome Trust Sanger Institute and the Cancer Research UK-Cambridge Institute (CRUK-CI) have shed light on a long-standing debate ...
Mar 30, 2017
0
61
Mendel's laws, like any laws in science, are wonderful because they make predictions possible. A woman and man both carry a recessive mutation in the same gene, and each of their children has a 25% chance of inheriting both ...
Feb 20, 2017
0
3
Researchers working at Karolinska Institutet in Sweden and University of Southern Denmark have managed to produce short synthetic DNA analogues – oligonucleotides – that bind directly to the gene that is mutated in Huntington's ...
Feb 20, 2017
0
735
Kawasaki disease (KD) is the most common acquired heart disease in children. Untreated, roughly one-quarter of children with KD develop coronary artery aneurysms—balloon-like bulges of heart vessels—that may ultimately ...
Feb 9, 2017
0
1
Investigators at Children's Hospital Los Angeles, led by Tracy C. Grikscheit, MD, have mapped the genetic changes resulting from short bowel syndrome (SBS) using a novel zebrafish model and by performing intensive gene sequencing. ...
Jan 25, 2017
0
0
Toronto scientists have discovered that the largest group of human proteins, which work as genome gatekeepers to control gene activity, are even more diverse in their roles than previously thought. The finding expands our ...
Nov 29, 2016
0
48
