Jennifer Ibrahim, MD, Head of North America Medical Affairs, Rare Disease at Sanofi Genzyme, discusses the human genome project and how it has been used to shorten the diagnostic journey for rare disease patients.
The human genome project was an international research project aimed at determining the base pairs that make up human DNA, and identifying and mapping all genes of the human genome. As Dr. Ibrahim claims, the human genome project not only gave the scientific community a better understanding of the genetic causes of certain diseases but also led to a surge in technological improvements that have led to multiple methods of DNA-based analysis. This in turn has led to the availability of testing, such as next-generation sequencing, which is both more cost-effective and more time-effective than single gene tests. Ultimately, this has cut diagnostic time down to potentially only a few weeks.
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