Investigating genetic diseases: Find out about the patients first

Dr Andrew Shelling from the University of Auckland talks about the importance of thoroughly examining the physical characteristics of their patients before they start to study the genetic sequences, or the genotype, of the patients. Later, computers are used to look for patterns between physical characteristics (the phenotype) and genetic characteristics (genotype). It may be, for example, that certain physical characteristics are common amongst patients who have a particular disease.

Transcript

Dr Andrew Shelling

What we are really interested in his finding out as much about the patients as we possibly can before we begin looking at their DNA, or their genotype. That’s called the phenotype - that’s their physical appearance as they walk in through the clinic door. So there are a lot of clinical parameters that we look at, like their weight, height, age, ethnicity the symptoms of the disease, and what they are presenting with. So the phenotype takes into account all those different traits [characteristics], and features about themselves.