MeSH tree: C18.452.648.398
Current genetic screening guidelines fail to identify most people with an inherited condition known as familial hypercholesterolemia that can cause dangerously high cholesterol and early heart disease, a Mayo Clinic study ...
Nov 19, 2025
0
19
In the United States, 1 in every 250 people has inherited a genetic variant that leads to dangerously high cholesterol levels from birth.
Nov 9, 2025
0
41
Batten disease is a rare inherited condition that affects brain development and function. CLN3 disease is the most common type of this disease. The symptoms are life-changing. They usually begin between the ages of four and ...
Nov 6, 2025
0
48
An international team led by a University of Pittsburgh School of Medicine scientist has created a first-of-its-kind resource to identify those with a genetic risk for elevated "bad" cholesterol—a major contributor to heart ...
Oct 30, 2025
0
23
The U.S. Food and Drug Administration has granted accelerated approval to Forzinity (elamipretide) injection as the first treatment for Barth syndrome.
Sep 25, 2025
0
10
Researchers at The Hospital for Sick Children (SickKids) have uncovered a promising new therapeutic target for Barth syndrome, a rare genetic condition with no current cure.
Sep 3, 2025
0
17
An evolving form of therapy to treat devastating neurodegenerative disorders by injecting fresh immune cells—microglia—directly into the brain, promises a new lease on health by slowing the progression of mind-robbing conditions.
A collaboration among Rice University, Baylor College of Medicine and Texas Children's Hospital's Jan and Dan Duncan Neurological Research Institute (NRI) has produced a breakthrough in how to study and classify complex diseases.
Aug 20, 2025
0
14
Patients in a Phase I/II clinical trial conducted by UMass Chan Medical School of a dual vector gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases, exhibited a biochemical correction of the ...
Aug 15, 2025
0
28
Tay-Sachs and Sandhoff diseases, genetic disorders affecting the brain, have no effective treatment and are typically fatal within the first years of life.
Aug 6, 2025
0
24
