Charcot-Marie-Tooth (CMT) disease, a group of heritable disorders that affect the peripheral nerves, is marked by specific genetic changes. Research by the team of Prof. Ludo Van Den Bosch (VIB-KU Leuven) now reveals the ...
Jun 3, 2024
0
0
In a study published in Communications Medicine, researchers from Tokyo Medical and Dental University (TMDU) have unveiled a groundbreaking genome-editing technique. This innovation holds promise for treating Charcot–Marie–Tooth ...
Dec 19, 2023
0
56
Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nerves in humans, affecting 1 in every 2,500 people. There is no cure for the disease, which causes severe disability due to disruptions ...
Aug 26, 2019
0
7
Fresh discoveries about a rare genetic disorder that affects mainly boys may inform the development of therapies to treat the condition.
Dec 12, 2018
0
0
Having twice the normal amount of the protein MeCP2, a condition called MECP2 duplication syndrome, causes severe progressive neuropsychiatric disorders that include intellectual disability, autism spectrum disorders, motor ...
Aug 23, 2017
0
0
Alzheimer's disease patients are increasing with the aging of the world's population, becoming a huge health care and social burden. To find the cause of various diseases, in recent years, scientists have focused within the ...
Jun 27, 2017
1
0
The gene p53 functions normally as a cancer suppressor, but mutated versions of the gene have been implicated in the development and growth of nearly half of all human cancers. Now, for the first time, scientists at VCU Massey ...
Jun 14, 2017
0
1
Gene duplications are a common cause of intellectual disabilities and autism as well as various other neurological disorders. In a new study that appears online in the journal Nature, Dr. Huda Zoghbi, professor of molecular ...
Nov 25, 2015
0
28
Copy number variations (deletions or duplications of large chunks of the genome) are a major cause of birth defects, intellectual disability, autism spectrum disorder and other developmental disorders. Still, geneticists ...
Jan 30, 2015
0
26
Baylor College of Medicine scientists defined a previously unrecognized genetic cause for two types of birth defects found in newborn boys, described in a report published today in the journal Nature Medicine.
Jun 1, 2014
0
0
