A new study has separately confirmed and significantly built on recent research, identifying mutations of a gene that causes the uncommon but potentially fatal Adams-Oliver syndrome.
May 11, 2015
0
46
Terence D. Capellini has been interested in how joints work for almost three decades. Part of it is due to personal experience, having sustained several joint injuries as a college ice hockey player and recently developing ...
Jul 6, 2021
0
17
An international team of researchers has identified genomic mutations for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized by facial weakness, a small or retracted ...
Jul 6, 2017
0
0
New opportunities towards gene therapy and diagnosis for the blinding eye disease, retinal dystrophy, may now become available following work done by the Eye Genetics Research Unit at Children's Medical Research Institute.
Mar 22, 2022
0
451
Several years ago, BYU biology professor John Kauwe got bumped to first class on a flight and found himself sitting next to former BYU and NBA basketball player Shawn Bradley. Even in first class, Bradley's legs were folded ...
Sep 7, 2018
2
206
A team of researchers from Stanford University in the U.S. and Southern University of Science and Technology in China has found evidence that suggests metastasis of cancerous tumors may get its start much earlier than previously ...
Once upon a time in Europe, pregnant women avoided rabbits to prevent their babies from being born with a "harelip." But, that apparently isn't the only misconception about the condition now known as cleft lip.
May 1, 2018
0
38
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...
Jul 17, 2017
0
588
Scientists have discovered that a gene that influences empathy, parental sensitivity and sociability is so powerful that even strangers observing 20 seconds of silent video identified people with a particular genetic variation ...
Nov 14, 2011
2
0
Based on the largest resource of its kind, members of the Exome Aggregation Consortium (ExAC) led by scientists at the Broad Institute of MIT and Harvard report scientific findings from data on the exome sequences (protein-coding ...
Aug 18, 2016
0
52
