Many diseases are caused by genetic variations. Predisposition for a disease can thus be derived from studying one's genome. Hence, molecular diagnostics is a rapidly evolving field to support medical decisions in early stages (precision medicine). Basically, one searches for a biological marker that is indicative for a particular endpoint, a stage of a disease, or even success of a therapy. One example, in which we played an important role, is the early detection of a trisomy of a fetus from maternal plasma. In this case, the biological marker is clear (triplication of a chromosome), but the challenge is to detect these aberrations reliably. In other cases, such as those in neurodegenerative diseases, the biological markers are not known and the challenges is to find these markers that can be used in the clinic. In collaboration with clinical geneticists, DBL develops methodology to find new markers for complex diseases and ways to detect biological markers reliably.
Topics we address:
- NIPT, non-invasive prenatal testing
- Early detection of cancer
- Detecting mixed bacterial infections
- Finding causative testable variants for various diseases, such as Alzheimer, Parkinson, Autism