Guillain-Barré syndrome is an infamous autoimmune neuropathy, yet genetic variants predisposing individuals to this disease have yet to be described. In a new study, researchers from Tokyo Medical and Dental University (TMDU) ...
Jan 7, 2021
0
13
A new drug discovered through a research collaboration between the University at Buffalo and Tetra Therapeutics took a major step toward becoming a first-in-class treatment for Fragile X Syndrome, a leading genetic cause ...
Dec 12, 2020
0
66
Researchers at Children's Hospital of Philadelphia (CHOP) have resolved a severe lymphatic disorder in a girl with Noonan Syndrome that had led to upper gastrointestinal bleeding, fluid collection around the lungs, and numerous ...
Nov 20, 2020
0
17
A tiny fish is helping scientists understand how the human brain processes sound, while also giving insight to autism spectrum disorder.
Nov 10, 2020
0
6
Results of a retrospective analysis suggest that people born with a heart defect who developed COVID-19 symptoms had a low risk of moderate or severe COVID-19 infection, according to a new article published today in the Journal ...
Oct 14, 2020
0
4
Zellweger syndrome is a rare disease which at its mildest form can cause developmental delays in childhood and vision and hearing loss in adulthood. At its most severe, it can mean weak muscle tone, feeding and respiratory ...
Sep 30, 2020
0
1
Researchers at Washington University School of Medicine in St. Louis are investigating whether a drug approved by the Food and Drug Administration (FDA) to treat rare diseases of an overactive immune system could help critically ...
Aug 17, 2020
0
10
An extensive international study led by Prof. Illana Gozes of Tel Aviv University's Department of Human Molecular Genetics and Biochemistry found deposits of the tau protein typically found in Alzheimer's patients in tissues ...
Jul 28, 2020
0
34
Approximately 5% of people with Covid-19 progress to a severe or critical form, including the development of severe pneumonia that progresses to acute respiratory distress syndrome. While these forms sometimes occur early ...
Jul 17, 2020
0
4
Mount Sinai researchers have for the first time identified reproductive and metabolic subtypes of polycystic ovary syndrome (PCOS) that are associated with novel gene regions. The findings, which used clustering of clinical, ...
Jun 23, 2020
0
5
