A biomarker is a biological molecule that offers a way to measure a normal or abnormal biological process in the body. This means that processes associated with particular diseases can be measured and disease progression monitored. It also means that the effect of drugs or other therapies on these processes (and therefore on disease progression) can be evaluated.
A biomarker may be a protein found in body fluids or tissues – the study of these is called proteomics.
It may be a characteristic of the genetic code (in DNA or RNA) – the study of these is called genomics.
BioBanks are long term stores or libraries of biological samples (for example of blood, urine and tissue biopsies) taken from consenting patients and volunteers. These samples are used for current and future research with the aim of helping to understand more about the human genome, diseases and conditions affecting human health. There are a number of biobanks around the world including deCODE genetics, Iceland and UK BioBank, UK.
The 6-minute walk test (6MWT) is a measure of exercise capacity. The distance a patient can walk in 6 minutes is assessed.
A muscle biopsy is where a small sample of muscle is taken for analysis via a needle or a surgical incision. This is often performed under general anaesthetic.
A genetic defect (also called a mutation) is where there has been a mistake or alteration in the DNA of an organism. They can be passed on from parent to child (they are inherited) or occur in an individual after fertilization (in which case they are not inherited). Mutations can occur randomly as the genetic material is duplicating itself. They can also be triggered by chemicals, radiation and viruses.