In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model.
Aug 26, 2020
0
45
Structures called primary cilia—which act like TV antennas for cells to detect signals—are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science ...
Jul 30, 2020
0
58
Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings ...
Jul 16, 2020
0
121
Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
0
159
Using induced pluripotent stem cells produced from the skin of a patient with a rare, genetic form of insulin-dependent diabetes called Wolfram syndrome, researchers transformed the human stem cells into insulin-producing ...
Apr 22, 2020
0
203
Researchers at the National Institutes of Health have discovered in mice what they believe is the first known genetic mutation to improve cognitive flexibility—the ability to adapt to changing situations.
Mar 27, 2020
0
395
Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically ...
Jan 27, 2020
0
68
A genetic link has now been found for some instances of Sudden Infant Death Syndrome, or SIDS. The new UW Medicine research study is the first to make an explainable link tracking the mechanism between a genetic anomaly and ...
Oct 11, 2019
0
144
As medical science links certain genetic mutations with a greater variety of cancers, the names for these risk syndromes are falling out of step.
Jul 4, 2019
0
1
For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Nov 16, 2018
1
48
