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3 days ago · Primary mitochondrial disorders (PMDs) are a clinically heterogeneous group of conditions caused by pathologic variants in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA).
2 days ago · COL4A1 brain small-vessel disease is an autosomal dominant condition resulting from a mutation to the COL4A1 gene, located on the long arm of chromosome 13, that normally encodes for the alpha-1 chain of type IV collagen 1-6.
3 days ago · Sinbaglustat (ACT-519276) is under development for the treatment of Tay-Sachs disease or GM2 gangliosidosis, a rare lysosomal storage disorders (LSD). The drug candidate acts by targeting glucosylceramide synthase and beta glucocerebrosidase. It is administered through oral route.
1 day ago · … Autosomal dominant is a pattern of inheritance characteristic of some genetic disorders. “Autosomal” means that the gene in question is located on one of the numbered, or non-sex, chromosomes. “Dominant” means that a single copy of the mutated gene (from one parent) is enough to cause the disorder.
4 days ago · Sickle cell disease is a hereditary disease seen most often among people of African ancestry. Caused by mutations in one of the genes that encode the hemoglobin protein, the disease is inherited as an autosomal recessive trait. The mutation causes the red blood cells to take on an unusual sickle shape.
3 days ago · To find out the latest thinking on enhancing adherence in treatment of bipolar disorder, Medscape's Randall F. White, MD, interviewed Gary S. Sachs, MD. Dr. Sachs is the director of the Bipolar Clinic and Research Program at the Massachusetts General Hospital and Associate Professor of Psychiatry at Harvard Medical School. Medscape ...
3 days ago · When one parent carries normal hemoglobin and the other with abnormal hemoglobin, the two will have a baby with a disease known as sickle cell disease. Tay-Sachs disease, similarly, happens when only half of the necessary antibodies are present during a child’s formation, which makes the child has weak immune system, leaving him or ...
