Basal ganglia are deep grey matter structures in the brain involved in the control of posture and voluntary movements, cognition, behaviour, and motivational states. Several conditions are known to affect basal ganglia during ...
Jan 6, 2022
0
6
Greenwood Genetic Center (GGC) researchers are reporting the discovery of a mechanism that contributes to the tissue phenotypes seen in PMM2-CDG, the most common of the congenital disorders of glycosylation (CDGs).
Dec 8, 2021
0
11
Riluzole, a drug approved to treat amyotrophic lateral sclerosis (ALS), a disease affecting nerve cells controlling movement, could slow the gradual loss of a particular brain cell that occurs in Niemann-Pick disease type ...
Nov 19, 2021
0
4
Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
0
20
A Brunel University London professor has joined the illustrious pantheon of Hans Asperger and John Langdon Down by having a syndrome named after her.
Sep 28, 2021
0
2
The cost of raising a child with a rare genetic disorder was significant but the economic burden could be reduced by earlier diagnosis and targeted treatment, a new study has found.
Aug 26, 2021
0
120
A novel method of gene therapy is helping children born with a rare genetic disorder called AADC deficiency that causes severe physical and developmental disabilities. The study, led by researchers at The Ohio State University ...
Jul 12, 2021
0
46
Cytosolic peptide:N-glycanase (NGLY1) is a widely conserved enzyme involved in de–N-glycosylation of N-glycosylated proteins. Mutations in the human NGLY1 gene cause global developmental delay and multisystemic symptoms, ...
Jul 6, 2021
0
5
The neocortex is a layered structure of the brain in which neurons are arranged parallel to each other. This organization is critical for healthy brain function. A team of researchers from Charité - Universitätsmedizin ...
Jul 6, 2021
0
151
CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioral disorders for which no treatment is currently available. Dr. Kessen Patten and his team from the ...
Apr 28, 2021
0
0
