Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is a fatal genetic disease for which there is unfortunately no cure. Now, scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and Puerta ...
Sep 5, 2019
0
95
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
A small team of medical workers and researchers in the U.S. has published a case study of two men, both deer hunters, who developed a rare prion disease. In their study, published in the journal Neurology, the group describes ...
(Medical Xpress) -- Most cases of autism are not caused by a single genetic mutation. However, several disorders with autism-like symptoms, including the rare Fragile X syndrome, can be traced to a specific mutation. Several ...
Nov 24, 2011
2
0
The Cliniface project aims to assist clinical diagnosis, drug treatment monitoring and clinical trials by using accurate and reliable 3-D facial image visualisation and analysis methods.
Mar 25, 2019
0
84
The first drug was approved Friday for a rare genetic disorder that stunts growth and causes rapid aging in children, after studies showed it can extend their lives.
Nov 21, 2020
0
197
Three young Americans have died this year from a rare water-borne amoeba that swims up through the nose and infects the brain, the Center for Disease Control (CDC) said Friday.
Aug 19, 2011
0
0
Families living with four extremely rare neurodegenerative diseases have finally learned the cause of their illnesses, thanks to a researcher's hunch and decades of improvements in DNA sequencing technology.
Jul 22, 2019
0
341
The most common mutation in the human genome is the C>T mutation, which causes half of all genetic diseases resulting from point mutations. For example, the one causing Hutchinson-Gilford progeria syndrome, a genetic disease ...
Jun 2, 2022
0
695
When MUSC Hollings Cancer Center researcher Jezabel R. Blanco, Ph.D., began studying neurosciences, first as a graduate student and later as a postdoctoral fellow, her research was focused on understanding the mechanisms ...
Jul 21, 2022
0
41
