Huntington’s disease (HD) is a genetic brain disease. HD causes the gradual breakdown of nerve cells in the brain. Huntington’s disease is a progressive disorder that gets worse over time. Most people ...

One devastating genetic disorder that exemplifies these difficult ethical and social concerns is Huntington's disease (HD). Symptoms of HD, which include uncontrolled movements, loss of mental ...

Genetic tests: These test for CAG repetitions and are the gold standard test. If a doctor thinks a person may have HD, they will refer them to a neurologist. Treatment for Huntington’s disease ...

Thus, choosing to have genetic testing for HD is highly personal, and it is recommended that individuals considering HD testing have extensive pretest counseling.

One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular ...

Using RNAi to reduce the levels of individual cellular proteins, the team carried out a genome-wide screen in a human cell model of HD of more than 7,800 genes viewed as potential drug targets.

More information: Zheng Ning et al. High-definition likelihood inference of genetic correlations across human complex traits, Nature Genetics (2020).DOI: 10.1038/s41588-020-0653-y ...

These kinds of studies are starting to touch on something more intimate than simply the search for new medicines, instead revealing new connections between our genetic code and our life choices.