Afflicting only a small fraction of the world’s population, rare genetic diseases stem from mutations within the genome. Because these chronic and heterogeneous conditions decrease quality of life and can result in premature death, rapid and accurate diagnosis is crucial. To analyze rare and inherited diseases, scientists employ several genetic methods.
Download this ebook from Thermo Fisher Scientific to learn about
- The prevalence of rare diseases worldwide
- Techniques for studying and diagnosing rare genetic diseases
- Factors affecting the onset of Huntington’s disease
- The role of Smad8 in the pathology of Duchenne muscular dystrophy
