MeSH tree: C18.452.584.563
A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness. Investigators from Mass General Brigham used large public biobanks to determine that genes thought to cause ...
Dec 22, 2025
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A rare genetic disorder discovered by UT Southwestern Medical Center researchers and their colleagues can cause brain damage from dangerously low blood sugar levels and liver damage in infants, along with variable body fat ...
Dec 9, 2025
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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
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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
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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
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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
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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
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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
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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
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