Tay-Sachs disease is a rare hereditary disorder ... accumulate in the child's brain until they reach toxic levels. They cause ...

Mucopolysaccharidosis is a family of diseases caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans (GAGs) within the lysosomes of cells. In one particular variant of ...

David Rimoin, a medical geneticist and the founding president of the American College of Medical Genetics and Genomics, passes away at age 75. NIH’s plan to reduce indirect funds faced immense ...