The Bacillus Calmette-Guerin vaccine against tuberculosis can elicit a good response in neonates. Infants who are exposed to HIV but are uninfected display an altered immunity to vaccination.
Researchers have identified a novel missense mutation in tyrosyl-tRNA synthetase (YARS c.499C>A, p.Pro167Thr) that causes a severe recessive disorder in affected individuals. The study, led by clinicians, researchers and ...
Nov 7, 2018
0
1
(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition ...
Apr 3, 2013
0
0
Imagine if you could open up your brain and look inside. What you would see is a network of nerve cells called neurons, each with its own internal highway system for transporting essential materials between different parts ...
May 28, 2013
0
0
The underlying cause of male infertility is unknown for 30 percent of cases. In a pair of new studies, researchers at University of California San Diego School of Medicine determined that the reproductive homeobox (RHOX) ...
Sep 27, 2016
0
0
Although some rare genetic variants can increase the risk of disease markedly for a few individuals, the genetic contribution to common diseases is mostly due to a combination of many common genetic variants with small effects. ...
May 16, 2022
0
35
Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, ...
Oct 19, 2014
0
0
Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live ...
Aug 21, 2012
0
0
A study by Yale researchers has uncovered a new and unexpected molecular mechanism in the development of polycystic kidney disease, or PKD. The study appears in Nature Genetics.
Jul 29, 2013
0
0
Just over a year ago, the European Union and the US Food and Drug Administration approved a new anti-retroviral drug to treat human immunodeficiency virus (HIV) infections. Lenacapavir is the first drug available to patients ...
Feb 13, 2024
0
8
